ID HBAZ_HUMAN Reviewed; 142 AA. AC P02008; DT 21-JUL-1986, integrated into UniProtKB/Swiss-Prot. DT 23-JAN-2007, sequence version 2. DT 04-NOV-2008, entry version 94. DE RecName: Full=Hemoglobin subunit zeta; DE AltName: Full=Hemoglobin zeta chain; DE AltName: Full=Zeta-globin; DE AltName: Full=HBAZ; GN Name=HBZ; Synonyms=HBZ2; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX MEDLINE=83129370; PubMed=6297773; DOI=10.1016/0092-8674(82)90311-7; RA Proudfoot N.J., Gil A., Maniatis T.; RT "The structure of the human zeta-globin gene and a closely linked, RT nearly identical pseudogene."; RL Cell 31:553-563(1982). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA]. RX MEDLINE=83182021; PubMed=6963223; RA Cohen-Solal M., Authier B., Deriel J.K., Murnane M.J., Forget B.G.; RT "Cloning and nucleotide sequence analysis of human embryonic zeta- RT globin cDNA."; RL DNA 1:355-363(1982). RN [3] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX MEDLINE=97207643; PubMed=9054936; DOI=10.1038/ng0397-252; RA Flint J., Thomas K., Micklem G., Raynham H., Clark K., Doggett N.A., RA King A., Higgs D.R.; RT "The relationship between chromosome structure and function at a human RT telomeric region."; RL Nat. Genet. 15:252-257(1997). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX MEDLINE=21096910; PubMed=11157797; DOI=10.1093/hmg/10.4.339; RA Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., RA Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J., RA Higgs D.R.; RT "Sequence, structure and pathology of the fully annotated terminal 2 RT Mb of the short arm of human chromosome 16."; RL Hum. Mol. Genet. 10:339-352(2001). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Pancreas, and Spleen; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [6] RP PROTEIN SEQUENCE OF 2-142. RX MEDLINE=82263314; PubMed=6179844; RA Aschauer H., Sanguansermsri T., Braunitzer G.; RT "Human embryonic haemoglobins. The primary structure of the zeta RT chains."; RL Hoppe-Seyler's Z. Physiol. Chem. 362:1159-1162(1981). RN [7] RP PROTEIN SEQUENCE OF 2-142. RX MEDLINE=82082400; PubMed=6171809; RA Clegg J.B., Gagnon J.; RT "Structure of the zeta chain of human embryonic hemoglobin."; RL Proc. Natl. Acad. Sci. U.S.A. 78:6076-6080(1981). RN [8] RP ACETYLATION AT SER-2. RX MEDLINE=82096755; PubMed=6172357; RA Aschauer H., Schaefer W., Sanguansermsri T., Braunitzer G.; RT "Human embryonic haemoglobins. Ac-Ser-Leu-Thr-is the N-terminal RT sequence of the zeta-chains."; RL Hoppe-Seyler's Z. Physiol. Chem. 362:1657-1659(1981). CC -!- FUNCTION: The zeta chain is an alpha-type chain of mammalian CC embryonic hemoglobin, synthesized primarily in the yolk sac. CC -!- SUBUNIT: Heterotetramer of two zeta chains and two epsilon chains CC in early embryonic hemoglobin Gower-1; two zeta chains and two CC gamma chains in hemoglobin Portland-1. CC -!- TISSUE SPECIFICITY: Red blood cells. CC -!- SIMILARITY: Belongs to the globin family. CC -!- WEB RESOURCE: Name=GeneReviews; CC URL="http://www.genetests.org/query?gene=HBZ"; CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; J00182; AAB59406.1; -; Genomic_DNA. DR EMBL; M24173; AAA61306.1; -; mRNA. DR EMBL; Z84721; CAB06552.1; -; Genomic_DNA. DR EMBL; AE006462; AAK61214.1; -; Genomic_DNA. DR EMBL; BC027892; AAH27892.1; -; mRNA. DR PIR; A90832; HZHU. DR RefSeq; NP_005323.1; -. DR UniGene; Hs.585357; -. DR PDB; 1JEB; X-ray; 2.10 A; A/C=1-142. DR PDBsum; 1JEB; -. DR IntAct; P02008; -. DR PeptideAtlas; P02008; -. DR Ensembl; ENSG00000130656; Homo sapiens. DR GeneID; 3050; -. DR KEGG; hsa:3050; -. DR H-InvDB; HIX0059559; -. DR HGNC; HGNC:4835; HBZ. DR MIM; 142310; gene. DR Orphanet; 846; Alpha-thalassemia. DR PharmGKB; PA29212; -. DR HOGENOM; P02008; -. DR HOVERGEN; P02008; -. DR LinkHub; P02008; -. DR NextBio; 12075; -. DR ArrayExpress; P02008; -. DR CleanEx; HS_HBZ; -. DR GermOnline; ENSG00000130656; Homo sapiens. DR GO; GO:0005833; C:hemoglobin complex; TAS:ProtInc. DR GO; GO:0005344; F:oxygen transporter activity; TAS:ProtInc. DR InterPro; IPR000971; Globin_subset. DR InterPro; IPR002338; Haemoglobin_a. DR InterPro; IPR002340; Haemoglobin_zeta. DR Pfam; PF00042; Globin; 1. DR PRINTS; PR00612; ALPHAHAEM. DR PRINTS; PR00816; ZETAHAEM. DR PROSITE; PS01033; GLOBIN; 1. PE 1: Evidence at protein level; KW 3D-structure; Acetylation; Direct protein sequencing; Heme; Iron; KW Metal-binding; Oxygen transport; Transport. FT INIT_MET 1 1 Removed. FT CHAIN 2 142 Hemoglobin subunit zeta. FT /FTId=PRO_0000052851. FT METAL 59 59 Iron (heme distal ligand). FT METAL 88 88 Iron (heme proximal ligand). FT MOD_RES 2 2 N-acetylserine. FT HELIX 5 18 FT HELIX 22 36 FT HELIX 38 43 FT HELIX 54 72 FT TURN 73 75 FT HELIX 77 80 FT HELIX 82 90 FT HELIX 97 113 FT TURN 115 117 FT HELIX 120 138 FT HELIX 139 141 SQ SEQUENCE 142 AA; 15637 MW; B62A9B825743A155 CRC64; MSLTKTERTI IVSMWAKIST QADTIGTETL ERLFLSHPQT KTYFPHFDLH PGSAQLRAHG SKVVAAVGDA VKSIDDIGGA LSKLSELHAY ILRVDPVNFK LLSHCLLVTL AARFPADFTA EAHAAWDKFL SVVSSVLTEK YR // ID HBA_HUMAN Reviewed; 142 AA. AC P69905; P01922; Q3MIF5; Q96KF1; Q9NYR7; DT 21-JUL-1986, integrated into UniProtKB/Swiss-Prot. DT 23-JAN-2007, sequence version 2. DT 04-NOV-2008, entry version 64. DE RecName: Full=Hemoglobin subunit alpha; DE AltName: Full=Hemoglobin alpha chain; DE AltName: Full=Alpha-globin; GN Name=HBA1; GN and GN Name=HBA2; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (HBA1). RX MEDLINE=81088339; PubMed=7448866; DOI=10.1016/0092-8674(80)90347-5; RA Michelson A.M., Orkin S.H.; RT "The 3' untranslated regions of the duplicated human alpha-globin RT genes are unexpectedly divergent."; RL Cell 22:371-377(1980). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA] (HBA2). RX MEDLINE=80137531; PubMed=6244294; RA Wilson J.T., Wilson L.B., Reddy V.B., Cavallesco C., Ghosh P.K., RA Deriel J.K., Forget B.G., Weissman S.M.; RT "Nucleotide sequence of the coding portion of human alpha globin RT messenger RNA."; RL J. Biol. Chem. 255:2807-2815(1980). RN [3] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (HBA2). RX MEDLINE=81175088; PubMed=6452630; RA Liebhaber S.A., Goossens M.J., Kan Y.W.; RT "Cloning and complete nucleotide sequence of human 5'-alpha-globin RT gene."; RL Proc. Natl. Acad. Sci. U.S.A. 77:7054-7058(1980). RN [4] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX PubMed=6946451; RA Orkin S.H., Goff S.C., Hechtman R.L.; RT "Mutation in an intervening sequence splice junction in man."; RL Proc. Natl. Acad. Sci. U.S.A. 78:5041-5045(1981). RN [5] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT LYS-32. RX MEDLINE=21303311; PubMed=11410421; RA Zhao Y., Xu X.; RT "Alpha2(CD31 AGG-->AAG, Arg-->Lys) causing non-deletional alpha- RT thalassemia in a Chinese family with HbH disease."; RL Haematologica 86:541-542(2001). RN [6] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (HBA1). RX MEDLINE=21295668; PubMed=11402454; RA Zhao Y., Zhong M., Liu Z., Xu X.; RT "Rapid detection of the common alpha-thalassemia-2 determinants by PCR RT assay."; RL Zhonghua Yi Xue Yi Chuan Xue Za Zhi 18:216-218(2001). RN [7] RP NUCLEOTIDE SEQUENCE [MRNA] (HBA2). RC TISSUE=Blood; RA Kutlar F., Leithner C., Kutlar A.; RT "Rapid sequencing of mRNA of the human alpha two globin, directly RT isolated from reticulocytes in whole blood."; RL Submitted (OCT-1998) to the EMBL/GenBank/DDBJ databases. RN [8] RP NUCLEOTIDE SEQUENCE [MRNA] (HBA1). RC TISSUE=Blood; RA Kutlar F., Leithner C., Kutlar A.; RT "cDNA sequencing of human alpha one globin mRNA, the 3'untranslated RT region is different than alpha two globin."; RL Submitted (NOV-1998) to the EMBL/GenBank/DDBJ databases. RN [9] RP NUCLEOTIDE SEQUENCE [MRNA]. RC TISSUE=Blood; RA Kutlar F., Holley L., Leithner C., Kutlar A.; RT "An alpha chain variant 'Hemoglobin J-Toronto (Cd.5 /Ala to Asp)' RT mutation was detected on the alpha-1 globin mRNA by sequencing of RT cDNA."; RL Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases. RN [10] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (HBA2), AND VARIANT EVANS MET-63. RC TISSUE=Blood; RA Kutlar F., Elam D., Hoff J.V., Holley L., Kutlar A.; RT "Unstable Hb 'Evans' (GTG->ATG/Val 62 Met) was detected on the alpha-2 RT globin gene of an Hispanic girl."; RL Submitted (AUG-2002) to the EMBL/GenBank/DDBJ databases. RN [11] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (HBA2). RA Kutlar F., Davis D.H., Nechtman J., Elam D.; RT "Hb G-Philadelphia (Alpha,Codon 68;AAC>AAG/Asn>Lys)in black is RT detected on a chromosome that carries alpha 3.7 kb deletion showed RT completely normal alpha-2 globin gene sequence."; RL Submitted (APR-2006) to the EMBL/GenBank/DDBJ databases. RN [12] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALPHA-1 AND ALPHA-2). RX PubMed=16728641; DOI=10.1126/science.1126431; RA De Gobbi M., Viprakasit V., Hughes J.R., Fisher C., Buckle V.J., RA Ayyub H., Gibbons R.J., Vernimmen D., Yoshinaga Y., de Jong P., RA Cheng J.-F., Rubin E.M., Wood W.G., Bowden D., Higgs D.R.; RT "A regulatory SNP causes a human genetic disease by creating a new RT transcriptional promoter."; RL Science 312:1215-1217(2006). RN [13] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (HBA1 AND HBA2). RX MEDLINE=21096910; PubMed=11157797; DOI=10.1093/hmg/10.4.339; RA Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., RA Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J., RA Higgs D.R.; RT "Sequence, structure and pathology of the fully annotated terminal 2 RT Mb of the short arm of human chromosome 16."; RL Hum. Mol. Genet. 10:339-352(2001). RN [14] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (HBA1 AND HBA2). RX PubMed=15616553; DOI=10.1038/nature03187; RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., RA Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., RA Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., RA Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., RA Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., RA Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., RA Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., RA Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., RA Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., RA Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., RA Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., RA Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., RA Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., RA Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., RA Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., RA Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., RA Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., RA Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., RA Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., RA Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., RA Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., RA Rubin E.M., Pennacchio L.A.; RT "The sequence and analysis of duplication-rich human chromosome 16."; RL Nature 432:988-994(2004). RN [15] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (HBA1 AND HBA2). RC TISSUE=Bone marrow, Brain, Lung, and Spleen; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [16] RP PROTEIN SEQUENCE OF 2-142. RX PubMed=13872627; RA Braunitzer G., Gehring-Muller R., Hilschmann N., Hilse K., Hobom G., RA Rudloff V., Wittmann-Liebold B.; RT "The constitution of normal adult human haemoglobin."; RL Hoppe-Seyler's Z. Physiol. Chem. 325:283-286(1961). RN [17] RP PROTEIN SEQUENCE OF 2-142. RX PubMed=13954546; RA Hill R.J., Konigsberg W.; RT "The structure of human hemoglobin: IV. The chymotryptic digestion of RT the alpha chain of human hemoglobin."; RL J. Biol. Chem. 237:3151-3156(1962). RN [18] RP PROTEIN SEQUENCE OF 2-142. RX PubMed=14093912; DOI=10.1021/bi00906a030; RA Schroeder W.A., Shelton J.R., Shelton J.B., Cormick J.; RT "The amino acid sequence of the alpha chain of human fetal RT hemoglobin."; RL Biochemistry 2:1353-1357(1963). RN [19] RP PROTEIN SEQUENCE OF 2-32. RC TISSUE=Platelet; RX MEDLINE=22608298; PubMed=12665801; DOI=10.1038/nbt810; RA Gevaert K., Goethals M., Martens L., Van Damme J., Staes A., RA Thomas G.R., Vandekerckhove J.; RT "Exploring proteomes and analyzing protein processing by mass RT spectrometric identification of sorted N-terminal peptides."; RL Nat. Biotechnol. 21:566-569(2003). RN [20] RP GLYCATION AT LYS-8; LYS-17; LYS-41 AND LYS-62, AND ABSENCE OF RP GLYCATION AT LYS-12; LYS-57; LYS-61; LYS-91 AND LYS-100. RX PubMed=7358733; RA Shapiro R., McManus M.J., Zalut C., Bunn H.F.; RT "Sites of nonenzymatic glycosylation of human hemoglobin A."; RL J. Biol. Chem. 255:3120-3127(1980). RN [21] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-25 AND TYR-43, AND MASS RP SPECTROMETRY. RX PubMed=18083107; DOI=10.1016/j.cell.2007.11.025; RA Rikova K., Guo A., Zeng Q., Possemato A., Yu J., Haack H., Nardone J., RA Lee K., Reeves C., Li Y., Hu Y., Tan Z., Stokes M., Sullivan L., RA Mitchell J., Wetzel R., Macneill J., Ren J.M., Yuan J., RA Bakalarski C.E., Villen J., Kornhauser J.M., Smith B., Li D., Zhou X., RA Gygi S.P., Gu T.-L., Polakiewicz R.D., Rush J., Comb M.J.; RT "Global survey of phosphotyrosine signaling identifies oncogenic RT kinases in lung cancer."; RL Cell 131:1190-1203(2007). RN [22] RP X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF DEOXYHEMOGLOBIN. RX MEDLINE=76027820; PubMed=1177322; DOI=10.1016/S0022-2836(75)80037-4; RA Fermi G.; RT "Three-dimensional fourier synthesis of human deoxyhaemoglobin at 2.5- RT A resolution: refinement of the atomic model."; RL J. Mol. Biol. 97:237-256(1975). RN [23] RP X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS). RX PubMed=7373648; DOI=10.1016/0022-2836(80)90308-3; RA Baldwin J.M.; RT "The structure of human carbonmonoxy haemoglobin at 2.7-A RT resolution."; RL J. Mol. Biol. 136:103-128(1980). RN [24] RP X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF LIGANDED R2 STATE. RX MEDLINE=92381041; PubMed=1512262; RA Silva M.M., Rogers P.H., Arnone A.; RT "A third quaternary structure of human hemoglobin A at 1.7-A RT resolution."; RL J. Biol. Chem. 267:17248-17256(1992). RN [25] RP X-RAY CRYSTALLOGRAPHY (2.9 ANGSTROMS) OF HB GOWER-2. RX MEDLINE=98332748; PubMed=9665850; DOI=10.1006/jmbi.1998.1868; RA Sutherland-Smith A.J., Baker H.M., Hofmann O.M., Brittain T., RA Baker E.N.; RT "Crystal structure of a human embryonic haemoglobin: the carbonmonoxy RT form of Gower II (alpha2 epsilon2) haemoglobin at 2.9-A resolution."; RL J. Mol. Biol. 280:475-484(1998). RN [26] RP X-RAY CRYSTALLOGRAPHY (1.5 ANGSTROMS) OF VARIANT HB CATONSVILLE GLU-38 RP INS. RX MEDLINE=93192190; PubMed=8448109; DOI=10.1021/bi00061a007; RA Kavanaugh J.S., Moo-Penn W.F., Arnone A.; RT "Accommodation of insertions in helices: the mutation in hemoglobin RT Catonsville (Pro 37 alpha-Glu-Thr 38 alpha) generates a 3(10)-->alpha RT bulge."; RL Biochemistry 32:2509-2513(1993). RN [27] RP VARIANT AL-AIN ABU DHABI ASP-19. RX MEDLINE=93053723; PubMed=1428941; RA Abbes S., M'Rad A., Fitzgerald P.A., Dormer P., Blouquit Y., RA Kister J., Galacteros F., Wajcman H.; RT "HB Al-Ain Abu Dhabi [alpha 18(A16)Gly-->Asp]: a new hemoglobin RT variant discovered in an Emiratee family."; RL Hemoglobin 16:355-362(1992). RN [28] RP VARIANT ATAGO TYR-86. RX MEDLINE=72030550; PubMed=5115619; RA Fujiwara N., Maekawa T., Matsuda G.; RT "Hemoglobin Atago (alpha2-85 Tyr beta-2) a new abnormal human RT hemoglobin found in Nagasaki. Biochemical studies on hemoglobins and RT myoglobins. VI."; RL Int. J. Protein Res. 3:35-39(1971). RN [29] RP VARIANT AUCKLAND ASN-88. RX MEDLINE=97463291; PubMed=9322075; RA Brennan S.O., Matthews J.R.; RT "Hb Auckland [alpha 87(F8) His-->Asn]: a new mutation of the proximal RT histidine identified by electrospray mass spectrometry."; RL Hemoglobin 21:393-403(1997). RN [30] RP VARIANTS J-BUDA ASN-62 AND G-PEST ASN-75. RA Brimhall B.J., Duerst M., Hollan S.R., Stenzel P., Szelenyi J., RA Jones R.T.; RT "Structural characterizations of hemoglobins J-Buda (alpha 61 (E10) RT Lys-to-Asn) and G-Pest (alpha 74 (EF3) Asp-to-Asn)."; RL Biochim. Biophys. Acta 336:344-360(1974). RN [31] RP VARIANT CEMENELUM TRP-93. RX PubMed=8148419; DOI=10.1007/BF01715134; RA Wajcman H., Kister J., M'Rad A., Soummer A.M., Galacteros F.; RT "Hb Cemenelum [alpha 92 (FG4) Arg-->Trp]: a hemoglobin variant of the RT alpha 1/beta 2 interface that displays a moderate increase in oxygen RT affinity."; RL Ann. Hematol. 68:73-76(1994). RN [32] RP VARIANTS CHONGQING ARG-3 AND HARBIN MET-17. RX MEDLINE=85130255; PubMed=6526652; RA Zeng Y.-T., Huang S.-Z., Qiu X.-K., Cheng G.-C., Ren Z.-R., Jin Q.-C., RA Chen C.-Y., Jiao C.-T., Tang Z.-G., Liu R.-H., Bao X.-H., Zeng L.-Z., RA Duan Y.-Q., Zhang G.-Y.; RT "Hemoglobin Chongqing [alpha 2(NA2)Leu-->Arg] and hemoglobin Harbin RT [alpha 16(A14)Lys-->Met] found in China."; RL Hemoglobin 8:569-581(1984). RN [33] RP VARIANT CLINIC LYS-61 DEL. RX PubMed=10206681; RX DOI=10.1002/(SICI)1098-1004(1998)11:5<412::AID-HUMU14>3.3.CO;2-I; RA Ayala S., Colomer D., Gelpi J.L., Corron J.L.V.; RT "Alpha-thalassaemia due to a single codon deletion in the alpha 1- RT globin gene. Computational structural analysis of the new alpha-chain RT variant."; RL Hum. Mutat. 11:412-412(1998). RN [34] RP VARIANT DAVENPORT HIS-79. RX MEDLINE=91331854; PubMed=2101836; RA Wilson J.B., Webber B.B., Plaseska D., de Alarcon P.A., McMillan S.K., RA Huisman T.H.J.; RT "Hb Davenport or alpha 2(78)(EF7)Asn-->His beta 2."; RL Hemoglobin 14:599-605(1990). RN [35] RP VARIANT EVANS MET-63. RX MEDLINE=90109650; PubMed=2606724; RA Wilson J.B., Webber B.B., Kutlar A., Reese A.L., McKie V.C., RA Lutcher C.L., Felice A.E., Huisman T.H.J.; RT "Hb Evans or alpha 262(E11)Val-->Met beta 2; an unstable hemoglobin RT causing a mild hemolytic anemia."; RL Hemoglobin 13:557-566(1989). RN [36] RP VARIANTS SPANISH TOWN VAL-28 AND FORT DE FRANCE ARG-46. RX MEDLINE=89323437; PubMed=2752146; RA Cash F.E., Monplaisir N., Goossens M., Liebhaber S.A.; RT "Locus assignment of two alpha-globin structural mutants from the RT Caribbean basin: alpha Fort de France (alpha 45 Arg) and alpha Spanish RT Town (alpha 27 Val)."; RL Blood 74:833-835(1989). RN [37] RP VARIANT GODAVARI THR-96. RX MEDLINE=98153063; PubMed=9494044; RA Wajcman H., Kister J., Riou J., Galacteros F., Girot R., RA Maier-Redelsperger M., Nayudu N.V.S., Giordano P.C.; RT "Hb Godavari [alpha 95(G2)Pro-->Thr]: a neutral amino acid RT substitution in the alpha 1 beta 2 interface that modifies the RT electrophoretic mobility of hemoglobin."; RL Hemoglobin 22:11-22(1998). RN [38] RP VARIANT GRADY GLU-PHE-THR-119 INS. RX MEDLINE=75010592; PubMed=4528583; RA Huisman T.H.J., Wilson J.B., Gravely M., Hubbard M.; RT "Hemoglobin Grady: the first example of a variant with elongated RT chains due to an insertion of residues."; RL Proc. Natl. Acad. Sci. U.S.A. 71:3270-3273(1974). RN [39] RP VARIANT HANAMAKI GLU-140. RX MEDLINE=92340291; PubMed=1634363; RA Orisaka M., Tajima T., Harano T., Harano K., Kushida Y., Imai K.; RT "A new alpha chain variant, Hb Hanamaki or alpha 2(139)(HC1)Lys-->Glu RT beta 2, found in a Japanese family."; RL Hemoglobin 16:67-71(1992). RN [40] RP VARIANT HANDA MET-91. RX MEDLINE=83056269; PubMed=6815131; RA Harano T., Harano K., Shibata S., Ueda S., Imai K., Seki M.; RT "HB Handa [alpha 90 (FG 2) Lys replaced by Met]: structure and RT biosynthesis of a new slightly higher oxygen affinity variant."; RL Hemoglobin 6:379-389(1982). RN [41] RP VARIANT HASHARON HIS-48. RX MEDLINE=69165810; PubMed=5780195; RA Charache S., Mondzac A.M., Gessner U.; RT "Hemoglobin Hasharon (alpha-2-47 his(CD5)beta-2): a hemoglobin found RT in low concentration."; RL J. Clin. Invest. 48:834-847(1969). RN [42] RP VARIANT HOBART ARG-21. RX MEDLINE=88006902; PubMed=3654264; RA Fleming P.J., Sumner D.R., Wyatt K., Hughes W.G., Melrose W.D., RA Jupe D.M.D., Baikie M.J.; RT "Hemoglobin Hobart or alpha 20(Bl)His-->Arg: a new alpha chain RT hemoglobin variant."; RL Hemoglobin 11:211-220(1987). RN [43] RP VARIANT INKSTER VAL-86. RX MEDLINE=74302151; PubMed=4212045; RA Reed R.E., Winter W.P., Rucknagel D.L.; RT "Haemoglobin inkster (alpha2 85aspartic acid leads to valine beta2) RT coexisting with beta-thalassaemia in a Caucasian family."; RL Br. J. Haematol. 26:475-484(1974). RN [44] RP VARIANT KANAGAWA MET-41. RX MEDLINE=92340282; PubMed=1634355; RA Miyashita H., Hashimoto K., Mohri H., Ohokubo T., Harano T., RA Harano K., Imai K.; RT "Hb Kanagawa [alpha 40(C5)Lys-->Met]: a new alpha chain variant with RT an increased oxygen affinity."; RL Hemoglobin 16:1-10(1992). RN [45] RP VARIANT KURDISTAN TYR-48. RX MEDLINE=94252883; PubMed=8195005; RA Giordano P.C., Harteveld C.L., Streng H., Oosterwijk J.C., RA Heister J.G.A.M., Amons R., Bernini L.F.; RT "Hb Kurdistan [alpha 47(CE5)Asp-->Tyr], a new alpha chain variant in RT combination with beta (0)-thalassemia."; RL Hemoglobin 18:11-18(1994). RN [46] RP VARIANT KUROSAKI GLU-8. RX MEDLINE=96031515; PubMed=7558876; RA Harano T., Harano K., Imai K., Murakami T., Matsubara H.; RT "Hb Kurosaki [alpha 7(A5)Lys-->Glu]: a new alpha chain variant found RT in a Japanese woman."; RL Hemoglobin 19:197-201(1995). RN [47] RP VARIANT J-MEERUT/J-BIRMINGHAM GLU-121. RX MEDLINE=95229430; PubMed=7713747; RA Yalcin A., Avcu F., Beyan C., Guergey A., Ural A.U.; RT "A case of HB J-Meerut (or Hb J-Birmingham) [alpha RT 120(H3)Ala-->Glu]."; RL Hemoglobin 18:433-435(1994). RN [48] RP VARIANT MELUSINE SER-115. RX MEDLINE=94124250; PubMed=8294199; RA Wacjman H., Klames G., Groff P., Prome D., Riou J., Galacteros F.; RT "Hb Melusine [alpha 114(GH2)Pro-->Ser]: a new neutral hemoglobin RT variant."; RL Hemoglobin 17:397-405(1993). RN [49] RP VARIANT MONTGOMERY ARG-49. RX MEDLINE=75109326; PubMed=1115799; RA Brimhall B., Jones R.T., Schneider R.G., Hosty T.S., Tomlin G., RA Atkins R.; RT "Two new hemoglobins. Hemoglobin Alabama (beta39(C5)Gln leads to Lys) RT and hemoglobin Montgomery (alpha 48(CD 6) Leu leads to Arg)."; RL Biochim. Biophys. Acta 379:28-32(1975). RN [50] RP VARIANT PETAH TIKVA ASP-111. RX MEDLINE=81134478; PubMed=7470621; RA Honig G.R., Shamsuddin M., Zaizov R., Steinherz M., Solar I., RA Kirschman C.; RT "Hemoglobin Petah Tikva (alpha 110 Ala replaced by Asp): a new RT unstable variant with alpha-thalassemia-like expression."; RL Blood 57:705-711(1981). RN [51] RP VARIANT PHNOM PENH ILE-118 INS. RX MEDLINE=98112407; PubMed=9452028; RA Wajcman H., Prehu M.O., Prehu C., Blouquit Y., Prome D., RA Galacteros F.; RT "Hemoglobin Phnom Penh [alpha117Phe(H1)-Ile-alpha118Thr(H2)]; evidence RT for a hotspot for insertion of residues in the third exon of the RT alpha1-globin gene."; RL Hum. Mutat. Suppl. 1:S20-S22(1998). RN [52] RP VARIANT PORT HURON ARG-57. RX MEDLINE=92202056; PubMed=1802882; RA Zwerdling T., Williams S., Nasr S.A., Rucknagel D.L.; RT "Hb Port Huron [alpha 56 (E5)Lys-->Arg]: a new alpha chain variant."; RL Hemoglobin 15:381-391(1991). RN [53] RP VARIANT SAWARA ALA-7. RX MEDLINE=74008827; PubMed=4744335; RA Sumida I., Ohta Y., Imamura T., Yanase T.; RT "Hemoglobin Sawara: alpha 6(A4) aspartic acid leads to alanine."; RL Biochim. Biophys. Acta 322:23-26(1973). RN [54] RP VARIANT SHENYANG GLU-27. RX MEDLINE=83135048; PubMed=7161109; RA Zeng Y.-T., Huang S.-Z., Zhou X., Qiu X.-K., Dong Q., Li M., Bai J.; RT "Hb Shenyang (alpha 26 (B7) Ala replaced by Glu): a new unstable RT variant found in China."; RL Hemoglobin 6:625-628(1982). RN [55] RP VARIANT SUAN-DOK ARG-110. RX MEDLINE=80006169; PubMed=478977; RA Sanguansermsri T., Matragoon S., Changloah L., Flatz G.; RT "Hemoglobin Suan-Dok (alpha 2 109 (G16) Leu replaced by Arg beta 2): RT an unstable variant associated with alpha-thalassemia."; RL Hemoglobin 3:161-174(1979). RN [56] RP INVOLVEMENT IN HEINZ BODY ANEMIAS, AND VARIANT TOYAMA ARG-137. RX PubMed=2833478; RA Ohba Y., Yamamoto K., Hattori Y., Kawata R., Miyaji T.; RT "Hyperunstable hemoglobin Toyama [alpha 2 136(H19)Leu----Arg beta 2]: RT detection and identification by in vitro biosynthesis with radioactive RT amino acids."; RL Hemoglobin 11:539-556(1987). RN [57] RP VARIANT SUN PRAIRIE PRO-131. RX MEDLINE=91177710; PubMed=2079430; RA Harkness M., Harkness D.R., Kutlar F., Kutlar A., Wilson J.B., RA Webber B.B., Codrington J.F., Huisman T.H.J.; RT "Hb Sun Prairie or alpha(2)130(H13)Ala-->Pro beta 2, a new unstable RT variant occurring in low quantities."; RL Hemoglobin 14:479-489(1990). RN [58] RP VARIANT SWAN RIVER GLY-7. RX MEDLINE=96351655; PubMed=8745434; RA Harano T., Harano K., Imai K., Terunuma S.; RT "HB Swan River [alpha 6(A4)Asp-->Gly] observed in a Japanese man."; RL Hemoglobin 20:75-78(1996). RN [59] RP VARIANT THIONVILLE GLU-2. RX MEDLINE=92316953; PubMed=1618774; RA Vasseur C., Blouquit Y., Kister J., Prome D., Kavanaugh J.S., RA Rogers P.H., Guillemin C., Arnone A., Galacteros F., Poyart C., RA Rosa J., Wajcman H.; RT "Hemoglobin Thionville. An alpha-chain variant with a substitution of RT a glutamate for valine at NA-1 and having an acetylated methionine NH2 RT terminus."; RL J. Biol. Chem. 267:12682-12691(1992). RN [60] RP VARIANT TUNIS-BIZERTE PRO-130. RX MEDLINE=95306384; PubMed=7786798; RA Darbellay R., Mach-Pascual S., Rose K., Graf J., Beris P.; RT "Haemoglobin Tunis-Bizerte: a new alpha 1 globin 129 Leu-->Pro RT unstable variant with thalassaemic phenotype."; RL Br. J. Haematol. 90:71-76(1995). RN [61] RP VARIANT TURRIFF GLU-100. RX MEDLINE=92340284; PubMed=1634357; RA Langdown J.V., Davidson R.J., Williamson D.; RT "A new alpha chain variant, Hb Turriff [alpha 99(G6)Lys-->Glu]: the RT interference of abnormal hemoglobins in Hb A1c determination."; RL Hemoglobin 16:11-17(1992). RN [62] RP VARIANT VAL DE MARNE ARG-134. RX MEDLINE=94124251; PubMed=8294200; RA Wacjman H., Kister J., M'Rad A., Marden M.C., Riou J., Galacteros F.; RT "Hb Val de Marne [alpha 133(H16)Ser-->Arg]: a new hemoglobin variant RT with moderate increase in oxygen affinity."; RL Hemoglobin 17:407-417(1993). RN [63] RP VARIANT WESTMEAD GLN-123. RX MEDLINE=92155975; PubMed=1686260; RA Jiang N.H., Liang S., Wen X.J., Liang R., Su C., Tang Z.; RT "Hb Westmead: an alpha 2-globin gene mutation detected by polymerase RT chain reaction and Stu I cleavage."; RL Hemoglobin 15:291-295(1991). RN [64] RP VARIANT WOODVILLE TYR-7. RX MEDLINE=86167529; PubMed=3754246; RA Como P.F., Barber S., Sage R.E., Kronenberg H.; RT "Hemoglobin Woodville: alpha (2)6(A4) aspartic acid-->tyrosine."; RL Hemoglobin 10:135-141(1986). RN [65] RP VARIANT YUDA ASP-131. RX MEDLINE=93053734; PubMed=1428950; RA Fujisawa K., Hattori Y., Ohba Y., Ando S.; RT "Hb Yuda or alpha 130(H13)Ala-->Asp; a new alpha chain variant with RT low oxygen affinity."; RL Hemoglobin 16:435-439(1992). RN [66] RP VARIANT ZAIRE HIS-LEU-PRO-ALA-GLU-117 INS. RX MEDLINE=92380658; PubMed=1511986; DOI=10.1007/BF00221961; RA Wajcman H., Blouquit Y., Vasseur C., le Querrec A., Laniece M., RA Melevendi C., Rasore A., Galacteros F.; RT "Two new human hemoglobin variants caused by unusual mutational RT events: Hb Zaire contains a five residue repetition within the alpha- RT chain and Hb Duino has two residues substituted in the beta-chain."; RL Hum. Genet. 89:676-680(1992). RN [67] RP VARIANT BOGHE GLN-59, AND VARIANT CHAROLLES TYR-104. RX PubMed=10569723; RA Lacan P., Francina A., Souillet G., Aubry M., Couprie N., RA Dementhon L., Becchi M.; RT "Two new alpha chain variants: Hb Boghe [alpha58(E7)His-->Gln, RT alpha2], a variant on the distal histidine, and Hb CHarolles RT [alpha103(G10)His-Tyr, alpha1]."; RL Hemoglobin 23:345-352(1999). RN [68] RP VARIANT CAMPINAS VAL-27, AND VARIANT WEST ONE GLY-127. RX PubMed=14576901; DOI=10.1590/S0100-879X2003001100004; RA Jorge S.B., Melo M.B., Costa F.F., Sonati M.F.; RT "Screening for mutations in human alpha-globin genes by nonradioactive RT single-strand conformation polymorphism."; RL Braz. J. Med. Biol. Res. 36:1471-1474(2003). RN [69] RP VARIANT BASSETT ALA-95, AND CHARACTERIZATION OF VARIANT BASSETT RP ALA-95. RX PubMed=15495251; DOI=10.1002/ajh.20184; RA Abdulmalik O., Safo M.K., Lerner N.B., Ochotorena J., Daikhin E., RA Lakka V., Santacroce R., Abraham D.J., Asakura T.; RT "Characterization of hemoglobin bassett (alpha94Asp-->Ala), a variant RT with very low oxygen affinity."; RL Am. J. Hematol. 77:268-276(2004). RN [70] RP VARIANT PLASENCIA ARG-126. RX PubMed=15921163; DOI=10.1081/HEM-200058578; RA Martin G., Villegas A., Gonzalez F.A., Ropero P., Hojas R., Polo M., RA Mateo M., Salvador M., Benavente C.; RT "A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: RT Hb Plasencia [alpha125(H8)Leu-->Arg (alpha2)."; RL Hemoglobin 29:113-117(2005). CC -!- FUNCTION: Involved in oxygen transport from the lung to the CC various peripheral tissues. CC -!- SUBUNIT: Heterotetramer of two alpha chains and two beta chains in CC adult hemoglobin A (HbA); two alpha chains and two delta chains in CC adult hemoglobin A2 (HbA2); two alpha chains and two epsilon CC chains in early embryonic hemoglobin Gower-2; two alpha chains and CC two gamma chains in fetal hemoglobin F (HbF). CC -!- INTERACTION: CC Q9NZD4:AHSP; NbExp=1; IntAct=EBI-714680, EBI-720250; CC P68871:HBB; NbExp=1; IntAct=EBI-714680, EBI-715554; CC -!- TISSUE SPECIFICITY: Red blood cells. CC -!- PTM: The initiator Met is not cleaved in variant Thionville and is CC acetylated. CC -!- DISEASE: Defects in HBA1/HBA2 may be a cause of Heinz body anemias CC [MIM:140700]. This is a form of non-spherocytic hemolytic anemia CC of Dacie type 1. After splenectomy, which has little benefit, CC basophilic inclusions called Heinz bodies are demonstrable in the CC erythrocytes. Before splenectomy, diffuse or punctate basophilia CC may be evident. Most of these cases are probably instances of CC hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz CC bodies are observed also with the Ivemark syndrome (asplenia with CC cardiovascular anomalies) and with glutathione peroxidase CC deficiency. CC -!- DISEASE: Defects in HBA1/HBA2 are the cause of alpha-thalassemia CC [MIM:141800, 604131]. The thalassemias are the most common CC monogenic diseases and occur mostly in Mediterranean and Southeast CC Asian populations. The hallmark of alpha-thalassemia is an CC imbalance in globin-chain production in the adult HbA molecule. CC The level of alpha chain production can range from none to very CC nearly normal levels. Deletion of both copies of each of the two CC alpha-globin genes causes alpha(0)-thalassemia, also known as CC homozygous alpha thalassemia. Due to the complete absence of alpha CC chains, the predominant fetal hemoglobin is a tetramer of gamma- CC chains (Bart hemoglobin) that has essentially no oxygen carrying CC capacity. This causes oxygen starvation in the fetal tissues CC leading to prenatal lethality or early neonatal death. The loss of CC three alpha genes results in high levels of a tetramer of four CC beta chains (hemoglobin H), causing a severe and life-threatening CC anemia known as hemoglobin H disease. Untreated, most patients die CC in childhood or early adolescence. The loss of two alpha genes CC results in mild alpha-thalassemia, also known as heterozygous CC alpha-thalassemia. Affected individuals have small red cells and a CC mild anemia (microcytosis). If three of the four alpha-globin CC genes are functional, individuals are completely asymptomatic. CC Some rare forms of alpha-thalassemia are due to point mutations CC (non-deletional alpha-thalassemia). The thalassemic phenotype is CC due to unstable globin alpha chains that are rapidly catabolized CC prior to formation of the alpha-beta heterotetramers. CC -!- DISEASE: Alpha(0)-thalassemia is associated with nonimmune hydrops CC fetalis [MIM:236750]. Hydrops fetalis is a generalized edema of CC the fetus with fluid accumulation in the body cavities. CC -!- MISCELLANEOUS: Gives blood its red color. CC -!- SIMILARITY: Belongs to the globin family. CC -!- WEB RESOURCE: Name=HbVar; Note=Human hemoglobin variants and CC thalassemias; CC URL="http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBA1"; CC -!- WEB RESOURCE: Name=HbVar; Note=Human hemoglobin variants and CC thalassemias; CC URL="http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBA2"; CC -!- WEB RESOURCE: Name=GeneReviews; CC URL="http://www.genetests.org/query?gene=HBA1"; CC -!- WEB RESOURCE: Name=GeneReviews; CC URL="http://www.genetests.org/query?gene=HBA2"; CC -!- WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and CC polymorphism database; CC URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=HBA1"; CC -!- WEB RESOURCE: Name=Wikipedia; Note=Hemoglobin entry; CC URL="http://en.wikipedia.org/wiki/Hemoglobin"; CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; J00153; AAB59407.1; -; Genomic_DNA. DR EMBL; J00153; AAB59408.1; -; Genomic_DNA. DR EMBL; V00491; CAA23750.1; -; Genomic_DNA. DR EMBL; V00493; CAA23752.1; -; mRNA. DR EMBL; V00488; CAA23748.1; -; Genomic_DNA. DR EMBL; V00516; CAA23774.1; -; Genomic_DNA. DR EMBL; AF230076; AAF72612.1; -; Genomic_DNA. DR EMBL; AF525460; AAM83102.1; -; Genomic_DNA. DR EMBL; AF097635; AAC72839.1; -; mRNA. DR EMBL; AF105974; AAC97373.1; -; mRNA. DR EMBL; AF349571; AAK37554.1; -; mRNA. DR EMBL; AF536204; AAN04486.1; -; Genomic_DNA. DR EMBL; DQ499017; ABF56144.1; -; Genomic_DNA. DR EMBL; DQ431198; ABD95910.1; -; Genomic_DNA. DR EMBL; DQ431198; ABD95911.1; -; Genomic_DNA. DR EMBL; AE006462; AAK61215.1; -; Genomic_DNA. DR EMBL; AE006462; AAK61216.1; -; Genomic_DNA. DR EMBL; Z84721; CAB06554.1; -; Genomic_DNA. DR EMBL; Z84721; CAB06555.1; -; Genomic_DNA. DR EMBL; BC005931; AAH05931.1; -; mRNA. DR EMBL; BC008572; AAH08572.1; -; mRNA. DR EMBL; BC032122; AAH32122.1; -; mRNA. DR EMBL; BC050661; AAH50661.1; -; mRNA. DR EMBL; BC101846; AAI01847.1; -; mRNA. DR EMBL; BC101848; AAI01849.1; -; mRNA. DR PIR; A90807; HAHU. DR PIR; C93303; HACZP. DR PIR; I58217; HACZ. DR RefSeq; NP_000508.1; -. DR RefSeq; NP_000549.1; -. DR UniGene; Hs.449630; -. DR UniGene; Hs.654744; -. DR PDB; 1A00; X-ray; 2.00 A; A/C=1-142. DR PDB; 1A01; X-ray; 1.80 A; A/C=1-142. DR PDB; 1A0U; X-ray; 2.14 A; A/C=1-142. DR PDB; 1A0Z; X-ray; 2.00 A; A/C=1-142. DR PDB; 1A3N; X-ray; 1.80 A; A/C=1-142. DR PDB; 1A3O; X-ray; 1.80 A; A/C=1-142. DR PDB; 1A9W; X-ray; 2.90 A; A/C=1-142. DR PDB; 1ABW; X-ray; 2.00 A; A=1-142. DR PDB; 1ABY; X-ray; 2.60 A; A=1-142. DR PDB; 1AJ9; X-ray; 2.20 A; A=1-142. DR PDB; 1B86; X-ray; 2.50 A; A/C=1-142. DR PDB; 1BAB; X-ray; 1.50 A; A/C=3-142. DR PDB; 1BBB; X-ray; 1.70 A; A/C=1-142. DR PDB; 1BIJ; X-ray; 2.30 A; A/C=1-142. DR PDB; 1BUW; X-ray; 1.90 A; A=1-142, C=2-142. DR PDB; 1BZ0; X-ray; 1.50 A; A/C=1-142. DR PDB; 1BZ1; X-ray; 1.59 A; A/C=1-142. DR PDB; 1BZZ; X-ray; 1.59 A; A/C=3-142. DR PDB; 1C7B; X-ray; 1.80 A; A/C=3-142. DR PDB; 1C7C; X-ray; 1.80 A; A=1-142. DR PDB; 1C7D; X-ray; 1.80 A; A=1-142. DR PDB; 1CLS; X-ray; 1.90 A; A/C=1-142. DR PDB; 1CMY; X-ray; 3.00 A; A/C=1-142. DR PDB; 1COH; X-ray; 2.90 A; A/C=1-142. DR PDB; 1DKE; X-ray; 2.10 A; A/C=1-142. DR PDB; 1DXT; X-ray; 1.70 A; A/C=1-142. DR PDB; 1DXU; X-ray; 1.70 A; A/C=1-142. DR PDB; 1DXV; X-ray; 1.70 A; A/C=1-142. DR PDB; 1FDH; X-ray; 2.50 A; A/B=1-142. DR PDB; 1FN3; X-ray; 2.48 A; A/C=1-142. DR PDB; 1G9V; X-ray; 1.85 A; A/C=1-142. DR PDB; 1GBU; X-ray; 1.80 A; A/C=1-142. DR PDB; 1GBV; X-ray; 2.00 A; A/C=1-142. DR PDB; 1GLI; X-ray; 2.50 A; A/C=3-142. DR PDB; 1GZX; X-ray; 2.10 A; A/C=1-142. DR PDB; 1HAB; X-ray; 2.30 A; A/C=1-142. DR PDB; 1HAC; X-ray; 2.60 A; A/C=1-142. DR PDB; 1HBA; X-ray; 2.10 A; A/C=1-142. DR PDB; 1HBB; X-ray; 1.90 A; A/C=1-142. DR PDB; 1HBS; X-ray; 3.00 A; A/C/E/G=1-142. DR PDB; 1HCO; X-ray; 2.70 A; A=1-142. DR PDB; 1HDB; X-ray; 2.20 A; A/C=1-142. DR PDB; 1HGA; X-ray; 2.10 A; A/C=1-142. DR PDB; 1HGB; X-ray; 2.10 A; A/C=1-142. DR PDB; 1HGC; X-ray; 2.10 A; A/C=1-142. DR PDB; 1HHO; X-ray; 2.10 A; A=1-142. DR PDB; 1IRD; X-ray; 1.25 A; A=1-142. DR PDB; 1J3Y; X-ray; 1.55 A; A/C/E/G=1-142. DR PDB; 1J3Z; X-ray; 1.60 A; A/C/E/G=1-142. DR PDB; 1J40; X-ray; 1.45 A; A/C/E/G=1-142. DR PDB; 1J41; X-ray; 1.45 A; A/C/E/G=1-142. DR PDB; 1J7S; X-ray; 2.20 A; A/C=3-142. DR PDB; 1J7W; X-ray; 2.00 A; A/C=3-142. DR PDB; 1J7Y; X-ray; 1.70 A; A/C=3-142. DR PDB; 1JY7; X-ray; 3.20 A; A/C/P/R/U/W=1-142. DR PDB; 1K0Y; X-ray; 1.87 A; A/C=1-142. DR PDB; 1K1K; X-ray; 2.00 A; A=1-142. DR PDB; 1KD2; X-ray; 1.87 A; A/C=1-142. DR PDB; 1LFL; X-ray; 2.70 A; A/C/P/R=2-142. DR PDB; 1LFQ; X-ray; 2.60 A; A=2-142. DR PDB; 1LFT; X-ray; 2.60 A; A=2-142. DR PDB; 1LFV; X-ray; 2.80 A; A=2-142. DR PDB; 1LFY; X-ray; 3.30 A; A=2-142. DR PDB; 1LFZ; X-ray; 3.10 A; A=2-142. DR PDB; 1LJW; X-ray; 2.16 A; A=1-142. DR PDB; 1M9P; X-ray; 2.10 A; A/C=1-142. DR PDB; 1MKO; X-ray; 2.18 A; A/C=1-142. DR PDB; 1NEJ; X-ray; 2.10 A; A/C=1-142. DR PDB; 1NIH; X-ray; 2.60 A; A/C=1-142. DR PDB; 1NQP; X-ray; 1.73 A; A/C=1-142. DR PDB; 1O1I; X-ray; 2.30 A; A=1-142. DR PDB; 1O1J; X-ray; 1.90 A; A=1-142. DR PDB; 1O1K; X-ray; 2.00 A; A/C=3-142. DR PDB; 1O1L; X-ray; 1.80 A; A=1-142. DR PDB; 1O1M; X-ray; 1.85 A; A=1-142. DR PDB; 1O1N; X-ray; 1.80 A; A=1-142. DR PDB; 1O1O; X-ray; 1.80 A; A/C=1-142. DR PDB; 1O1P; X-ray; 1.80 A; A=1-142. DR PDB; 1QI8; X-ray; 1.80 A; A/C=3-142. DR PDB; 1QSH; X-ray; 1.70 A; A/C=1-142. DR PDB; 1QSI; X-ray; 1.70 A; A/C=1-142. DR PDB; 1QXD; X-ray; 2.25 A; A/C=1-142. DR PDB; 1QXE; X-ray; 1.85 A; A/C=1-142. DR PDB; 1R1X; X-ray; 2.15 A; A=1-142. DR PDB; 1R1Y; X-ray; 1.80 A; A/C=1-142. DR PDB; 1RPS; X-ray; 2.11 A; A/C=1-142. DR PDB; 1RQ3; X-ray; 1.91 A; A/C=1-142. DR PDB; 1RQ4; X-ray; 2.11 A; A/C=1-142. DR PDB; 1RQA; X-ray; 2.11 A; A/C=1-142. DR PDB; 1RVW; X-ray; 2.50 A; A=1-142. DR PDB; 1SDK; X-ray; 1.80 A; A/C=1-142. DR PDB; 1SDL; X-ray; 1.80 A; A/C=1-142. DR PDB; 1SHR; X-ray; 1.88 A; A/C=1-142. DR PDB; 1SI4; X-ray; 2.20 A; A/C=1-142. DR PDB; 1THB; X-ray; 1.50 A; A/C=1-142. DR PDB; 1UIW; X-ray; 1.50 A; A/C/E/G=1-142. DR PDB; 1VWT; X-ray; 1.90 A; A/C=1-142. DR PDB; 1XXT; X-ray; 1.91 A; A/C=1-142. DR PDB; 1XY0; X-ray; 1.99 A; A/C=3-142. DR PDB; 1XYE; X-ray; 2.13 A; A/C=3-142. DR PDB; 1XZ2; X-ray; 1.90 A; A/C=1-142. DR PDB; 1XZ4; X-ray; 2.00 A; A/C=3-142. DR PDB; 1XZ5; X-ray; 2.11 A; A/C=3-142. DR PDB; 1XZ7; X-ray; 1.90 A; A/C=3-142. DR PDB; 1XZU; X-ray; 2.16 A; A/C=3-142. DR PDB; 1XZV; X-ray; 2.11 A; A/C=3-142. DR PDB; 1Y01; X-ray; 2.80 A; B=1-142. DR PDB; 1Y09; X-ray; 2.25 A; A/C=3-142. DR PDB; 1Y0A; X-ray; 2.22 A; A/C=3-142. DR PDB; 1Y0C; X-ray; 2.30 A; A/C=3-142. DR PDB; 1Y0D; X-ray; 2.10 A; A/C=1-141. DR PDB; 1Y0T; X-ray; 2.14 A; A/C=1-142. DR PDB; 1Y0W; X-ray; 2.14 A; A/C=1-142. DR PDB; 1Y22; X-ray; 2.16 A; A/C=1-142. DR PDB; 1Y2Z; X-ray; 2.07 A; A/C=1-142. DR PDB; 1Y31; X-ray; 2.13 A; A/C=1-142. DR PDB; 1Y35; X-ray; 2.12 A; A/C=1-142. DR PDB; 1Y45; X-ray; 2.00 A; A/C=1-142. DR PDB; 1Y46; X-ray; 2.22 A; A/C=1-142. DR PDB; 1Y4B; X-ray; 2.10 A; A/C=1-142. DR PDB; 1Y4F; X-ray; 2.00 A; A/C=1-142. DR PDB; 1Y4G; X-ray; 1.91 A; A/C=1-142. DR PDB; 1Y4P; X-ray; 1.98 A; A/C=1-142. DR PDB; 1Y4Q; X-ray; 2.11 A; A/C=1-142. DR PDB; 1Y4R; X-ray; 2.22 A; A/C=1-142. DR PDB; 1Y4V; X-ray; 1.84 A; A/C=1-142. DR PDB; 1Y5F; X-ray; 2.14 A; A/C=1-142. DR PDB; 1Y5J; X-ray; 2.03 A; A/C=1-142. DR PDB; 1Y5K; X-ray; 2.20 A; A/C=1-142. DR PDB; 1Y7C; X-ray; 2.10 A; A/C=1-142. DR PDB; 1Y7D; X-ray; 1.90 A; A/C=1-142. DR PDB; 1Y7G; X-ray; 2.10 A; A/C=1-142. DR PDB; 1Y7Z; X-ray; 1.98 A; A/C=1-142. DR PDB; 1Y83; X-ray; 1.90 A; A/C=1-142. DR PDB; 1Y85; X-ray; 2.13 A; A/C=1-142. DR PDB; 1Y8W; X-ray; 2.90 A; A/C=3-142. DR PDB; 1YDZ; X-ray; 3.30 A; A/C=3-142. DR PDB; 1YE0; X-ray; 2.50 A; A/C=1-142. DR PDB; 1YE1; X-ray; 4.50 A; A/C=1-142. DR PDB; 1YE2; X-ray; 1.80 A; A/C=1-142. DR PDB; 1YEN; X-ray; 2.80 A; A/C=1-142. DR PDB; 1YEO; X-ray; 2.22 A; A/C=1-142. DR PDB; 1YEQ; X-ray; 2.75 A; A/C=1-142. DR PDB; 1YEU; X-ray; 2.12 A; A/C=1-142. DR PDB; 1YEV; X-ray; 2.11 A; A/C=1-142. DR PDB; 1YFF; X-ray; 2.40 A; A/C/E/G=1-142. DR PDB; 1YG5; X-ray; 2.70 A; A/C=1-142. DR PDB; 1YGD; X-ray; 2.73 A; A/C=1-142. DR PDB; 1YGF; X-ray; 2.70 A; A/C=1-142. DR PDB; 1YH9; X-ray; 2.20 A; A/C=1-142. DR PDB; 1YHE; X-ray; 2.10 A; A/C=1-142. DR PDB; 1YHR; X-ray; 2.60 A; A/C=1-142. DR PDB; 1YIE; X-ray; 2.40 A; A/C=1-142. DR PDB; 1YIH; X-ray; 2.00 A; A/C=1-142. DR PDB; 1YVQ; X-ray; 1.80 A; A/C=1-142. DR PDB; 1YVT; X-ray; 1.80 A; A=1-142. DR PDB; 1YZI; X-ray; 2.07 A; A=1-142. DR PDB; 1Z8U; X-ray; 2.40 A; B/D=1-142. DR PDB; 2D5Z; X-ray; 1.45 A; A/C=1-142. DR PDB; 2D60; X-ray; 1.70 A; A/C=1-142. DR PDB; 2DN1; X-ray; 1.25 A; A=1-142. DR PDB; 2DN2; X-ray; 1.25 A; A/C=1-142. DR PDB; 2DN3; X-ray; 1.25 A; A=1-142. DR PDB; 2DXM; Neutron; 2.10 A; A/C=2-142. DR PDB; 2H35; NMR; -; A=1-142, C=2-142. DR PDB; 2HBC; X-ray; 2.10 A; A=1-142. DR PDB; 2HBD; X-ray; 2.20 A; A=1-142. DR PDB; 2HBE; X-ray; 2.00 A; A=1-142. DR PDB; 2HBF; X-ray; 2.20 A; A=1-142. DR PDB; 2HBS; X-ray; 2.05 A; A/C/E/G=1-142. DR PDB; 2HCO; X-ray; 2.70 A; A=1-142. DR PDB; 2HHD; X-ray; 2.20 A; A/C=1-142. DR PDB; 2HHE; X-ray; 2.20 A; A/C=1-142. DR PDB; 2YRS; X-ray; 2.30 A; A/C/I/M=2-142. DR PDB; 3D17; X-ray; 2.80 A; A/C=2-142. DR PDB; 4HHB; X-ray; 1.74 A; A/C=1-142. DR PDB; 6HBW; X-ray; 2.00 A; A/C=1-142. DR PDBsum; 1A00; -. DR PDBsum; 1A01; -. DR PDBsum; 1A0U; -. DR PDBsum; 1A0Z; -. DR PDBsum; 1A3N; -. DR PDBsum; 1A3O; -. DR PDBsum; 1A9W; -. DR PDBsum; 1ABW; -. DR PDBsum; 1ABY; -. DR PDBsum; 1AJ9; -. DR PDBsum; 1B86; -. DR PDBsum; 1BAB; -. DR PDBsum; 1BBB; -. DR PDBsum; 1BIJ; -. DR PDBsum; 1BUW; -. DR PDBsum; 1BZ0; -. DR PDBsum; 1BZ1; -. DR PDBsum; 1BZZ; -. DR PDBsum; 1C7B; -. DR PDBsum; 1C7C; -. DR PDBsum; 1C7D; -. DR PDBsum; 1CLS; -. DR PDBsum; 1CMY; -. DR PDBsum; 1COH; -. DR PDBsum; 1DKE; -. DR PDBsum; 1DXT; -. DR PDBsum; 1DXU; -. DR PDBsum; 1DXV; -. DR PDBsum; 1FDH; -. DR PDBsum; 1FN3; -. DR PDBsum; 1G9V; -. DR PDBsum; 1GBU; -. DR PDBsum; 1GBV; -. DR PDBsum; 1GLI; -. DR PDBsum; 1GZX; -. DR PDBsum; 1HAB; -. DR PDBsum; 1HAC; -. DR PDBsum; 1HBA; -. DR PDBsum; 1HBB; -. DR PDBsum; 1HBS; -. DR PDBsum; 1HCO; -. DR PDBsum; 1HDB; -. DR PDBsum; 1HGA; -. DR PDBsum; 1HGB; -. DR PDBsum; 1HGC; -. DR PDBsum; 1HHO; -. DR PDBsum; 1IRD; -. DR PDBsum; 1J3Y; -. DR PDBsum; 1J3Z; -. DR PDBsum; 1J40; -. DR PDBsum; 1J41; -. DR PDBsum; 1J7S; -. DR PDBsum; 1J7W; -. DR PDBsum; 1J7Y; -. DR PDBsum; 1JY7; -. DR PDBsum; 1K0Y; -. DR PDBsum; 1K1K; -. DR PDBsum; 1KD2; -. DR PDBsum; 1LFL; -. DR PDBsum; 1LFQ; -. DR PDBsum; 1LFT; -. DR PDBsum; 1LFV; -. DR PDBsum; 1LFY; -. DR PDBsum; 1LFZ; -. DR PDBsum; 1LJW; -. DR PDBsum; 1M9P; -. DR PDBsum; 1MKO; -. DR PDBsum; 1NEJ; -. DR PDBsum; 1NIH; -. DR PDBsum; 1NQP; -. DR PDBsum; 1O1I; -. DR PDBsum; 1O1J; -. DR PDBsum; 1O1K; -. DR PDBsum; 1O1L; -. DR PDBsum; 1O1M; -. DR PDBsum; 1O1N; -. DR PDBsum; 1O1O; -. DR PDBsum; 1O1P; -. DR PDBsum; 1QI8; -. DR PDBsum; 1QSH; -. DR PDBsum; 1QSI; -. DR PDBsum; 1QXD; -. DR PDBsum; 1QXE; -. DR PDBsum; 1R1X; -. DR PDBsum; 1R1Y; -. DR PDBsum; 1RPS; -. DR PDBsum; 1RQ3; -. DR PDBsum; 1RQ4; -. DR PDBsum; 1RQA; -. DR PDBsum; 1RVW; -. DR PDBsum; 1SDK; -. DR PDBsum; 1SDL; -. DR PDBsum; 1SHR; -. DR PDBsum; 1SI4; -. DR PDBsum; 1THB; -. DR PDBsum; 1UIW; -. DR PDBsum; 1VWT; -. DR PDBsum; 1XXT; -. DR PDBsum; 1XY0; -. DR PDBsum; 1XYE; -. DR PDBsum; 1XZ2; -. DR PDBsum; 1XZ4; -. DR PDBsum; 1XZ5; -. DR PDBsum; 1XZ7; -. DR PDBsum; 1XZU; -. DR PDBsum; 1XZV; -. DR PDBsum; 1Y01; -. DR PDBsum; 1Y09; -. DR PDBsum; 1Y0A; -. DR PDBsum; 1Y0C; -. DR PDBsum; 1Y0D; -. DR PDBsum; 1Y0T; -. DR PDBsum; 1Y0W; -. DR PDBsum; 1Y22; -. DR PDBsum; 1Y2Z; -. DR PDBsum; 1Y31; -. DR PDBsum; 1Y35; -. DR PDBsum; 1Y45; -. DR PDBsum; 1Y46; -. DR PDBsum; 1Y4B; -. DR PDBsum; 1Y4F; -. DR PDBsum; 1Y4G; -. DR PDBsum; 1Y4P; -. DR PDBsum; 1Y4Q; -. DR PDBsum; 1Y4R; -. DR PDBsum; 1Y4V; -. DR PDBsum; 1Y5F; -. DR PDBsum; 1Y5J; -. DR PDBsum; 1Y5K; -. DR PDBsum; 1Y7C; -. DR PDBsum; 1Y7D; -. DR PDBsum; 1Y7G; -. DR PDBsum; 1Y7Z; -. DR PDBsum; 1Y83; -. DR PDBsum; 1Y85; -. DR PDBsum; 1Y8W; -. DR PDBsum; 1YDZ; -. DR PDBsum; 1YE0; -. DR PDBsum; 1YE1; -. DR PDBsum; 1YE2; -. DR PDBsum; 1YEN; -. DR PDBsum; 1YEO; -. DR PDBsum; 1YEQ; -. DR PDBsum; 1YEU; -. DR PDBsum; 1YEV; -. DR PDBsum; 1YFF; -. DR PDBsum; 1YG5; -. DR PDBsum; 1YGD; -. DR PDBsum; 1YGF; -. DR PDBsum; 1YH9; -. DR PDBsum; 1YHE; -. DR PDBsum; 1YHR; -. DR PDBsum; 1YIE; -. DR PDBsum; 1YIH; -. DR PDBsum; 1YVQ; -. DR PDBsum; 1YVT; -. DR PDBsum; 1YZI; -. DR PDBsum; 1Z8U; -. DR PDBsum; 2D5Z; -. DR PDBsum; 2D60; -. DR PDBsum; 2DN1; -. DR PDBsum; 2DN2; -. DR PDBsum; 2DN3; -. DR PDBsum; 2DXM; -. DR PDBsum; 2H35; -. DR PDBsum; 2HBC; -. DR PDBsum; 2HBD; -. DR PDBsum; 2HBE; -. DR PDBsum; 2HBF; -. DR PDBsum; 2HBS; -. DR PDBsum; 2HCO; -. DR PDBsum; 2HHD; -. DR PDBsum; 2HHE; -. DR PDBsum; 2YRS; -. DR PDBsum; 3D17; -. DR PDBsum; 4HHB; -. DR PDBsum; 6HBW; -. DR IntAct; P69905; -. DR PhosphoSite; P69905; -. DR SWISS-2DPAGE; P69905; -. DR DOSAC-COBS-2DPAGE; P69905; -. DR REPRODUCTION-2DPAGE; IPI00410714; -. DR Siena-2DPAGE; P69905; -. DR PeptideAtlas; P69905; -. DR Ensembl; ENSG00000188536; Homo sapiens. DR Ensembl; ENSG00000206172; Homo sapiens. DR GeneID; 3039; -. DR GeneID; 3040; -. DR KEGG; hsa:3039; -. DR KEGG; hsa:3040; -. DR H-InvDB; HIX0012641; -. DR H-InvDB; HIX0079739; -. DR HGNC; HGNC:4823; HBA1. DR HGNC; HGNC:4824; HBA2. DR MIM; 140700; phenotype. DR MIM; 141800; gene+phenotype. DR MIM; 141850; gene. DR MIM; 141860; gene. DR MIM; 236750; phenotype. DR MIM; 604131; phenotype. DR Orphanet; 846; Alpha-thalassemia. DR PharmGKB; PA29198; -. DR HOGENOM; P69905; -. DR HOVERGEN; P69905; -. DR DrugBank; DB00613; Amodiaquine. DR DrugBank; DB00608; Chloroquine. DR DrugBank; DB00893; Iron Dextran. DR DrugBank; DB00358; Mefloquine. DR DrugBank; DB01087; Primaquine. DR DrugBank; DB00468; Quinine. DR LinkHub; P69905; -. DR NextBio; 12034; -. DR CleanEx; HS_HBA1; -. DR CleanEx; HS_HBA2; -. DR GermOnline; ENSG00000188536; Homo sapiens. DR GermOnline; ENSG00000206172; Homo sapiens. DR GO; GO:0005833; C:hemoglobin complex; TAS:UniProtKB. DR GO; GO:0005515; F:protein binding; IPI:UniProtKB. DR GO; GO:0015671; P:oxygen transport; TAS:UniProtKB. DR InterPro; IPR000971; Globin_subset. DR InterPro; IPR002338; Haemoglobin_a. DR InterPro; IPR002339; Haemoglobin_pi. DR PANTHER; PTHR11442:SF14; Pi_haem; 1. DR Pfam; PF00042; Globin; 1. DR PRINTS; PR00612; ALPHAHAEM. DR PRINTS; PR00815; PIHAEM. DR PROSITE; PS01033; GLOBIN; 1. PE 1: Evidence at protein level; KW 3D-structure; Acetylation; Direct protein sequencing; KW Disease mutation; Glycation; Glycoprotein; Heme; Iron; Metal-binding; KW Oxygen transport; Phosphoprotein; Polymorphism; Transport. FT INIT_MET 1 1 Removed. FT CHAIN 2 142 Hemoglobin subunit alpha. FT /FTId=PRO_0000052653. FT METAL 59 59 Iron (heme distal ligand). FT METAL 88 88 Iron (heme proximal ligand). FT SITE 12 12 Not glycated. FT SITE 57 57 Not glycated. FT SITE 61 61 Not glycated. FT SITE 91 91 Not glycated. FT SITE 100 100 Not glycated. FT MOD_RES 25 25 Phosphotyrosine. FT MOD_RES 43 43 Phosphotyrosine. FT CARBOHYD 8 8 N-linked (Glc) (glycation). FT CARBOHYD 17 17 N-linked (Glc) (glycation). FT CARBOHYD 41 41 N-linked (Glc) (glycation). FT CARBOHYD 62 62 N-linked (Glc) (glycation). FT VARIANT 2 2 V -> E (in Thionville; O(2) affinity FT down). FT /FTId=VAR_002719. FT VARIANT 3 3 L -> R (in ChongQing; O(2) affinity up). FT /FTId=VAR_002720. FT VARIANT 6 6 A -> D (in J-Toronto). FT /FTId=VAR_002721. FT VARIANT 6 6 A -> P (in Karachi). FT /FTId=VAR_002722. FT VARIANT 7 7 D -> A (in Sawara; O(2) affinity up). FT /FTId=VAR_002723. FT VARIANT 7 7 D -> G (in Swan River). FT /FTId=VAR_002724. FT VARIANT 7 7 D -> N (in Dunn; O(2) affinity up). FT /FTId=VAR_002725. FT VARIANT 7 7 D -> V (in Ferndown; O(2) affinity up). FT /FTId=VAR_002726. FT VARIANT 7 7 D -> Y (in Woodville; O(2) affinity up). FT /FTId=VAR_002727. FT VARIANT 8 8 K -> E (in Kurosaki). FT /FTId=VAR_002728. FT VARIANT 10 10 N -> T (in Broomfield). FT /FTId=VAR_038149. FT VARIANT 11 11 V -> F (in dbSNP:rs1799896). FT /FTId=VAR_014605. FT VARIANT 12 12 K -> E (in Anantharaj). FT /FTId=VAR_002729. FT VARIANT 13 13 A -> D (in J-Paris 1/J-Aljezur). FT /FTId=VAR_002730. FT VARIANT 14 14 A -> P (in Ravenscourt Park; causes FT alpha-thalassemia). FT /FTId=VAR_038150. FT VARIANT 15 15 W -> R (in Evanston; O(2) affinity up). FT /FTId=VAR_002731. FT VARIANT 16 16 G -> R (in Ottawa/Siam). FT /FTId=VAR_002732. FT VARIANT 17 17 K -> M (in Harbin; slightly unstable). FT /FTId=VAR_002733. FT VARIANT 17 17 K -> N (in Beijing). FT /FTId=VAR_002734. FT VARIANT 19 19 G -> D (in Al-Ain Abu Dhabi). FT /FTId=VAR_002735. FT VARIANT 19 19 G -> R (in Handsworth). FT /FTId=VAR_002736. FT VARIANT 20 20 A -> D (in J-Kurosh). FT /FTId=VAR_002737. FT VARIANT 20 20 A -> E (in J-Tashikuergan). FT /FTId=VAR_002738. FT VARIANT 21 21 H -> Q (in Le Lamentin). FT /FTId=VAR_002739. FT VARIANT 21 21 H -> R (in Hobart). FT /FTId=VAR_002740. FT VARIANT 22 22 A -> D (in J-Nyanza). FT /FTId=VAR_002741. FT VARIANT 22 22 A -> P (in Fontainebleau). FT /FTId=VAR_002742. FT VARIANT 23 23 G -> D (in J-Medellin). FT /FTId=VAR_002743. FT VARIANT 24 24 E -> G (in Reims; slightly unstable). FT /FTId=VAR_002744. FT VARIANT 24 24 E -> K (in Chad). FT /FTId=VAR_002745. FT VARIANT 25 25 Y -> H (in Luxembourg; unstable). FT /FTId=VAR_002746. FT VARIANT 27 27 A -> E (in Shenyang; unstable). FT /FTId=VAR_002747. FT VARIANT 27 27 A -> V (in Campinas). FT /FTId=VAR_025387. FT VARIANT 28 28 E -> D (in Hekinan). FT /FTId=VAR_002748. FT VARIANT 28 28 E -> G (in Fort Worth). FT /FTId=VAR_002749. FT VARIANT 28 28 E -> V (in Spanish town). FT /FTId=VAR_002750. FT VARIANT 31 31 E -> K (in O-Padova). FT /FTId=VAR_002751. FT VARIANT 32 32 R -> K (causes alpha-thalassemia). FT /FTId=VAR_025002. FT VARIANT 32 32 R -> S (in Prato; unstable). FT /FTId=VAR_002752. FT VARIANT 35 35 L -> R (in Queens/Ogi). FT /FTId=VAR_002753. FT VARIANT 38 38 P -> PE (in Catonsville). FT /FTId=VAR_002755. FT VARIANT 38 38 P -> R (in Bourmedes). FT /FTId=VAR_002754. FT VARIANT 41 41 K -> M (in Kanagawa; O(2) affinity up). FT /FTId=VAR_002756. FT VARIANT 42 42 T -> S (in Miyano; O(2) affinity up). FT /FTId=VAR_002757. FT VARIANT 44 44 F -> L (in Hirosaki; unstable). FT /FTId=VAR_002758. FT VARIANT 45 45 P -> L (in Milledgeville; O(2) affinity FT up; dbSNP:rs41514946). FT /FTId=VAR_002759. FT VARIANT 45 45 P -> R (in Kawachi; O(2) affinity up). FT /FTId=VAR_002760. FT VARIANT 46 46 H -> Q (in Bari). FT /FTId=VAR_002761. FT VARIANT 46 46 H -> R (in Fort de France; O(2) affinity FT up). FT /FTId=VAR_002762. FT VARIANT 48 48 D -> A (in Cordele; unstable). FT /FTId=VAR_002763. FT VARIANT 48 48 D -> G (in Umi/Michigan; unstable). FT /FTId=VAR_002764. FT VARIANT 48 48 D -> H (in Hasharon/Sinai; unstable). FT /FTId=VAR_002765. FT VARIANT 48 48 D -> Y (in Kurdistan). FT /FTId=VAR_002766. FT VARIANT 49 49 L -> R (in Montgomery). FT /FTId=VAR_002767. FT VARIANT 50 50 S -> R (in Savaria). FT /FTId=VAR_002768. FT VARIANT 51 51 H -> R (in Aichi; slightly unstable). FT /FTId=VAR_002769. FT VARIANT 52 52 G -> D (in J-Abidjan). FT /FTId=VAR_002770. FT VARIANT 52 52 G -> R (in Russ). FT /FTId=VAR_002771. FT VARIANT 54 54 A -> D (in J-Rovigo; unstable). FT /FTId=VAR_002772. FT VARIANT 55 55 Q -> R (in Hikoshima/Shimonoseki). FT /FTId=VAR_002773. FT VARIANT 57 57 K -> R (in Port Huron). FT /FTId=VAR_002774. FT VARIANT 57 57 K -> T (in Thailand). FT /FTId=VAR_002775. FT VARIANT 58 58 G -> R (in L-Persian Gulf). FT /FTId=VAR_002776. FT VARIANT 59 59 H -> Q (in Boghe). FT /FTId=VAR_025388. FT VARIANT 59 59 H -> Y (in M-Boston/M-Osaka; O(2) FT affinity down). FT /FTId=VAR_002777. FT VARIANT 60 60 G -> D (in Adana; unstable; causes alpha- FT thalassemia; dbSNP:rs28928878). FT /FTId=VAR_002778. FT VARIANT 60 60 G -> V (in Tottori; unstable). FT /FTId=VAR_002779. FT VARIANT 61 61 K -> N (in Zambia; dbSNP:rs28928887). FT /FTId=VAR_002780. FT VARIANT 61 61 Missing (in Clinic; unstable; causes FT alpha-thalassemia). FT /FTId=VAR_002781. FT VARIANT 62 62 K -> N (in J-Buda). FT /FTId=VAR_002782. FT VARIANT 62 62 K -> T (in J-Anatolia). FT /FTId=VAR_002783. FT VARIANT 63 63 V -> M (in Evans; unstable). FT /FTId=VAR_002784. FT VARIANT 64 64 A -> D (in Pontoise; unstable). FT /FTId=VAR_002785. FT VARIANT 65 65 D -> Y (in Persepolis). FT /FTId=VAR_002786. FT VARIANT 69 69 N -> K (in G-Philadelphia; FT dbSNP:rs1060339). FT /FTId=VAR_002787. FT VARIANT 72 72 A -> E (in J-Habana). FT /FTId=VAR_002788. FT VARIANT 72 72 A -> V (in Ozieri). FT /FTId=VAR_002789. FT VARIANT 73 73 H -> R (in Daneskgah-Teheran). FT /FTId=VAR_002790. FT VARIANT 75 75 D -> A (in Lille). FT /FTId=VAR_002791. FT VARIANT 75 75 D -> G (in Chapel Hill). FT /FTId=VAR_002792. FT VARIANT 75 75 D -> N (in G-Pest). FT /FTId=VAR_002793. FT VARIANT 76 76 D -> A (in Duan). FT /FTId=VAR_002794. FT VARIANT 76 76 D -> H (in Q-Iran). FT /FTId=VAR_002795. FT VARIANT 77 77 M -> K (in Noko). FT /FTId=VAR_002796. FT VARIANT 77 77 M -> T (in Aztec). FT /FTId=VAR_002797. FT VARIANT 78 78 P -> R (in Guizhou). FT /FTId=VAR_002798. FT VARIANT 79 79 N -> H (in Davenport). FT /FTId=VAR_002799. FT VARIANT 79 79 N -> K (in Stanleyville-2). FT /FTId=VAR_002800. FT VARIANT 80 80 A -> G (in Singapore). FT /FTId=VAR_012662. FT VARIANT 81 81 L -> R (in Ann Arbor; unstable). FT /FTId=VAR_002801. FT VARIANT 82 82 S -> C (in Nigeria). FT /FTId=VAR_002802. FT VARIANT 83 83 A -> D (in Garden State). FT /FTId=VAR_002803. FT VARIANT 85 85 S -> R (in Etobicoke; O(2) affinity up). FT /FTId=VAR_002804. FT VARIANT 86 86 D -> V (in Inkster; O(2) affinity up). FT /FTId=VAR_002805. FT VARIANT 86 86 D -> Y (in Atago; O(2) affinity up). FT /FTId=VAR_002806. FT VARIANT 87 87 L -> R (in Moabit; unstable). FT /FTId=VAR_002807. FT VARIANT 88 88 H -> N (in Auckland; unstable). FT /FTId=VAR_002808. FT VARIANT 88 88 H -> R (in Iwata; unstable). FT /FTId=VAR_002809. FT VARIANT 89 89 A -> S (in Loire; O(2) affinity up). FT /FTId=VAR_002810. FT VARIANT 91 91 K -> M (in Handa; O(2) affinity up). FT /FTId=VAR_002811. FT VARIANT 92 92 L -> P (in Port Phillip; unstable; FT dbSNP:rs17407508). FT /FTId=VAR_002812. FT VARIANT 93 93 R -> Q (in J-Cape Town; O(2) affinity FT up). FT /FTId=VAR_002813. FT VARIANT 93 93 R -> W (in Cemenelum; O(2) affinity up). FT /FTId=VAR_020775. FT VARIANT 95 95 D -> A (in Bassett; markedly reduced FT oxygen affinity). FT /FTId=VAR_025389. FT VARIANT 95 95 D -> Y (in Setif; unstable). FT /FTId=VAR_002814. FT VARIANT 96 96 P -> A (in Denmark Hill; O(2) affinity FT up). FT /FTId=VAR_002815. FT VARIANT 96 96 P -> T (in Godavari; O(2) affinity up). FT /FTId=VAR_002816. FT VARIANT 98 98 N -> K (in Dallas; O(2) affinity up). FT /FTId=VAR_002817. FT VARIANT 100 100 K -> E (in Turriff). FT /FTId=VAR_002818. FT VARIANT 103 103 S -> R (in Manitoba; slightly unstable; FT dbSNP:rs41344646). FT /FTId=VAR_002819. FT VARIANT 104 104 H -> R (in Contaldo; unstable). FT /FTId=VAR_002820. FT VARIANT 104 104 H -> Y (in Charolles). FT /FTId=VAR_025390. FT VARIANT 110 110 L -> R (in Suan-Dok; unstable; causes FT alpha-thalassemia). FT /FTId=VAR_002821. FT VARIANT 111 111 A -> D (in Petah Tikva; unstable; causes FT alpha-thalassemia). FT /FTId=VAR_002822. FT VARIANT 113 113 H -> D (in Hopkins-II; unstable). FT /FTId=VAR_002823. FT VARIANT 114 114 L -> H (in Twin Peaks). FT /FTId=VAR_002824. FT VARIANT 115 115 P -> L (in Nouakchott). FT /FTId=VAR_002825. FT VARIANT 115 115 P -> R (in Chiapas). FT /FTId=VAR_002826. FT VARIANT 115 115 P -> S (in Melusine). FT /FTId=VAR_002827. FT VARIANT 116 116 A -> D (in J-Tongariki). FT /FTId=VAR_002828. FT VARIANT 117 117 E -> A (in Ube-4). FT /FTId=VAR_002829. FT VARIANT 117 117 E -> EHLPAE (in Zaire). FT /FTId=VAR_002830. FT VARIANT 118 118 F -> FI (in Phnom Penh). FT /FTId=VAR_002831. FT VARIANT 119 119 T -> TEFT (in Grady). FT /FTId=VAR_002832. FT VARIANT 121 121 A -> E (in J-Meerut/J-Birmingham). FT /FTId=VAR_002833. FT VARIANT 122 122 V -> M (in Owari). FT /FTId=VAR_002834. FT VARIANT 123 123 H -> Q (in Westmead). FT /FTId=VAR_002835. FT VARIANT 126 126 L -> P (in Quong Sze; causes alpha- FT thalassemia). FT /FTId=VAR_002836. FT VARIANT 126 126 L -> R (in Plasencia; family with FT moderate microcytosis and hypochromia). FT /FTId=VAR_025391. FT VARIANT 127 127 D -> G (in West One). FT /FTId=VAR_025392. FT VARIANT 127 127 D -> V (in Fukutomi; O(2) affinity up). FT /FTId=VAR_002837. FT VARIANT 127 127 D -> Y (in Monteriore; O(2) affinity up). FT /FTId=VAR_002838. FT VARIANT 128 128 K -> N (in Jackson). FT /FTId=VAR_002839. FT VARIANT 130 130 L -> P (in Tunis-Bizerte; unstable; FT causes alpha-thalassemia). FT /FTId=VAR_002840. FT VARIANT 131 131 A -> D (in Yuda; O(2) affinity down). FT /FTId=VAR_002842. FT VARIANT 131 131 A -> P (in Sun Prairie; unstable). FT /FTId=VAR_002841. FT VARIANT 132 132 S -> P (in Questembert; highly unstable; FT causes alpha-thalassemia). FT /FTId=VAR_002843. FT VARIANT 134 134 S -> R (in Val de Marne; O(2) affinity FT up). FT /FTId=VAR_002844. FT VARIANT 136 136 V -> E (in Pavie). FT /FTId=VAR_002845. FT VARIANT 137 137 L -> M (in Chicago). FT /FTId=VAR_002846. FT VARIANT 137 137 L -> P (in Bibba; unstable; causes alpha- FT thalassemia). FT /FTId=VAR_002847. FT VARIANT 137 137 L -> R (in Toyama). FT /FTId=VAR_035242. FT VARIANT 139 139 S -> P (in Attleboro; O(2) affinity up). FT /FTId=VAR_002848. FT VARIANT 140 140 K -> E (in Hanamaki; O(2) affinity up). FT /FTId=VAR_002849. FT VARIANT 140 140 K -> T (in Tokoname; O(2) affinity up). FT /FTId=VAR_002850. FT VARIANT 141 141 Y -> H (in Rouen; O(2) affinity up). FT /FTId=VAR_002851. FT VARIANT 142 142 R -> C (in Nunobiki; O(2) affinity up). FT /FTId=VAR_002852. FT VARIANT 142 142 R -> H (in Suresnes; O(2) affinity up). FT /FTId=VAR_002854. FT VARIANT 142 142 R -> L (in Legnano; O(2) affinity up). FT /FTId=VAR_002853. FT VARIANT 142 142 R -> P (in Singapore). FT /FTId=VAR_002855. FT HELIX 5 16 FT HELIX 17 21 FT HELIX 22 36 FT HELIX 38 43 FT HELIX 54 72 FT HELIX 74 76 FT HELIX 77 80 FT HELIX 82 90 FT HELIX 97 113 FT TURN 115 117 FT HELIX 120 137 FT TURN 138 140 SQ SEQUENCE 142 AA; 15258 MW; 15E13666573BBBAE CRC64; MVLSPADKTN VKAAWGKVGA HAGEYGAEAL ERMFLSFPTT KTYFPHFDLS HGSAQVKGHG KKVADALTNA VAHVDDMPNA LSALSDLHAH KLRVDPVNFK LLSHCLLVTL AAHLPAEFTP AVHASLDKFL ASVSTVLTSK YR // ID HBB_HUMAN Reviewed; 147 AA. AC P68871; P02023; Q13852; Q14481; Q14510; Q45KT0; Q6FI08; Q8IZI1; AC Q9BX96; Q9UCP8; Q9UCP9; DT 21-JUL-1986, integrated into UniProtKB/Swiss-Prot. DT 23-JAN-2007, sequence version 2. DT 04-NOV-2008, entry version 68. DE RecName: Full=Hemoglobin subunit beta; DE AltName: Full=Hemoglobin beta chain; DE AltName: Full=Beta-globin; DE Contains: DE RecName: Full=LVV-hemorphin-7; GN Name=HBB; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX MEDLINE=77126403; PubMed=1019344; RA Marotta C., Forget B., Cohen-Solal M., Weissman S.M.; RT "Nucleotide sequence analysis of coding and noncoding regions of human RT beta-globin mRNA."; RL Prog. Nucleic Acid Res. Mol. Biol. 19:165-175(1976). RN [2] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX MEDLINE=81064667; PubMed=6254664; DOI=10.1016/0092-8674(80)90428-6; RA Lawn R.M., Efstratiadis A., O'Connell C., Maniatis T.; RT "The nucleotide sequence of the human beta-globin gene."; RL Cell 21:647-651(1980). RN [3] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT LYS-7. RX PubMed=16175509; DOI=10.1086/491748; RA Wood E.T., Stover D.A., Slatkin M., Nachman M.W., Hammer M.F.; RT "The beta-globin recombinational hotspot reduces the effects of strong RT selection around HbC, a recently arisen mutation providing resistance RT to malaria."; RL Am. J. Hum. Genet. 77:637-642(2005). RN [4] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RA Lu L., Hu Z.H., Du C.S., Fu Y.S.; RT "DNA sequence of the human beta-globin gene isolated from a healthy RT Chinese."; RL Submitted (JUN-1997) to the EMBL/GenBank/DDBJ databases. RN [5] RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT LOUISVILLE LEU-43. RC TISSUE=Blood; RA Kutlar F., Harbin J., Brisco J., Kutlar A.; RT "Rapid detection of electrophoretically silent, unstable human RT hemoglobin 'Louisville', (Beta; Phe 42 Leu/TTT to CTT) by cDNA RT sequencing of mRNA."; RL Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases. RN [6] RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT DURHAM-N.C. PRO-115. RC TISSUE=Blood; RA Kutlar F., Abboud M., Leithner C., Holley L., Brisco J., Kutlar A.; RT "Electrophoretically silent, very unstable, thalassemic mutation at RT codon 114 of beta globin (hemoglobin Durham-N.C.) detected by cDNA RT sequencing of mRNA, from a Russian women."; RL Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases. RN [7] RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT TY GARD GLN-125. RC TISSUE=Blood; RA Kutlar F., Holley L., Leithner C., Kutlar A.; RT "A rare beta chain variant 'Hemoglobin Ty Gard:Pro 124 Gln' found in a RT Caucasian female with erythrocytosis."; RL Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases. RN [8] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RA Kutlar A., Vercellotti G.M., Glendenning M., Holley L., Elam D., RA Kutlar F.; RT "Heterozygote C->A beta-thalassemia mutation at the intron-2/848 RT nucleotide of beta globin gene was detected on a Northern European RT (Caucasian) individual."; RL Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases. RN [9] RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS VAL-7 AND SER-140. RC TISSUE=Blood; RA Kutlar F., Lallinger R.R., Holley L., Glendenning M., Kutlar A.; RT "A new hemoglobin, beta chain variant 'Hb S-Wake' confirmed to be on RT the same chromosome with hemoglobin S mutation, detected in an RT African-American family."; RL Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases. RN [10] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT O-ARAB. RC TISSUE=Blood; RA Kutlar F., Elam D., Glendenning M., Kutlar A., Dincol G.; RT "Coexistence of the hemoglobin O-Arab (Glu 121 Lys) and beta- RT thalassemia (intron-2; nucleotide 745 C->G) was detected in a Turkish RT patient."; RL Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases. RN [11] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RA Li W.J.; RT "Thalassaemic trait cause by C-T substitution at position -90 in RT proximal CACCC box of beta-globin gene in China family."; RL Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases. RN [12] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RA Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., RA Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., RA Korn B., Zuo D., Hu Y., LaBaer J.; RT "Cloning of human full open reading frames in Gateway(TM) system entry RT vector (pDONR201)."; RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases. RN [13] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Skeletal muscle; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [14] RP PROTEIN SEQUENCE OF 2-147. RX PubMed=13872627; RA Braunitzer G., Gehring-Muller R., Hilschmann N., Hilse K., Hobom G., RA Rudloff V., Wittmann-Liebold B.; RT "The constitution of normal adult human haemoglobin."; RL Hoppe-Seyler's Z. Physiol. Chem. 325:283-286(1961). RN [15] RP PROTEIN SEQUENCE OF 33-42, AND MASS SPECTROMETRY. RX PubMed=1575724; DOI=10.1016/0006-291X(92)90699-L; RA Glaemsta E.-L., Meyerson B., Silberring J., Terenius L., Nyberg F.; RT "Isolation of a hemoglobin-derived opioid peptide from cerebrospinal RT fluid of patients with cerebrovascular bleedings."; RL Biochem. Biophys. Res. Commun. 184:1060-1066(1992). RN [16] RP PROTEIN SEQUENCE OF 33-42. RA Ianzer D., Konno K., Xavier C.H., Stoecklin R., Santos R.A.S., RA de Camargo A.C.M., Pimenta D.C.; RL Submitted (JUN-2007) to UniProtKB. RN [17] RP NUCLEOTIDE SEQUENCE [MRNA] OF 122-147. RX MEDLINE=85205333; PubMed=2581851; DOI=10.1016/0378-1119(85)90093-9; RA Lang K.M., Spritz R.A.; RT "Cloning specific complete polyadenylylated 3'-terminal cDNA RT segments."; RL Gene 33:191-196(1985). RN [18] RP BISPHOSPHOGLYCERATE BINDING. RX PubMed=4555506; DOI=10.1038/237146a0; RA Arnone A.; RT "X-ray diffraction study of binding of 2,3-diphosphoglycerate to human RT deoxyhaemoglobin."; RL Nature 237:146-149(1972). RN [19] RP ACETYLATION AT LYS-145. RX PubMed=4531009; RA Shamsuddin M., Mason R.G., Ritchey J.M., Honig G.R., Klotz I.M.; RT "Sites of acetylation of sickle cell hemoglobin by aspirin."; RL Proc. Natl. Acad. Sci. U.S.A. 71:4693-4697(1974). RN [20] RP GLYCATION AT VAL-2. RX MEDLINE=78138698; PubMed=635569; RA Bunn H.F., Gabbay K.H., Gallop P.M.; RT "The glycosylation of hemoglobin: relevance to diabetes mellitus."; RL Science 200:21-27(1978). RN [21] RP GLYCATION AT LYS-9; LYS-18; LYS-67; LYS-121 AND LYS-145, AND ABSENCE RP OF GLYCATION AT LYS-60; LYS-83 AND LYS-96. RX PubMed=7358733; RA Shapiro R., McManus M.J., Zalut C., Bunn H.F.; RT "Sites of nonenzymatic glycosylation of human hemoglobin A."; RL J. Biol. Chem. 255:3120-3127(1980). RN [22] RP INTERACTION WITH HAPTOGLOBIN. RX MEDLINE=86242088; PubMed=3718478; RA Yoshioka N., Atassi M.Z.; RT "Haemoglobin binding with haptoglobin. Localization of the RT haptoglobin-binding sites on the beta-chain of human haemoglobin by RT synthetic overlapping peptides encompassing the entire chain."; RL Biochem. J. 234:453-456(1986). RN [23] RP OXIDATION AT LEU-142. RX PubMed=1520632; RA Brennan S.O., Shaw J., Allen J., George P.M.; RT "Beta 141 Leu is not deleted in the unstable haemoglobin Atlanta- RT Coventry but is replaced by a novel amino acid of mass 129 daltons."; RL Br. J. Haematol. 81:99-103(1992). RN [24] RP S-NITROSYLATION AT CYS-94. RX PubMed=8637569; DOI=10.1038/380221a0; RA Jia L., Bonaventura C., Bonaventura J., Stamler J.S.; RT "S-nitrosohaemoglobin: a dynamic activity of blood involved in RT vascular control."; RL Nature 380:221-226(1996). RN [25] RP S-NITROSYLATION AT CYS-94. RX MEDLINE=99060083; PubMed=9843411; DOI=10.1021/bi9816711; RA Chan N.L., Rogers P.H., Arnone A.; RT "Crystal structure of the S-nitroso form of liganded human RT hemoglobin."; RL Biochemistry 37:16459-16464(1998). RN [26] RP NITRIC OXIDE-BINDING. RX MEDLINE=20056222; PubMed=10588683; DOI=10.1073/pnas.96.25.14206; RA Durner J., Gow A.J., Stamler J.S., Glazebrook J.; RT "Ancient origins of nitric oxide signaling in biological systems."; RL Proc. Natl. Acad. Sci. U.S.A. 96:14206-14207(1999). RN [27] RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-145, AND MASS SPECTROMETRY. RC TISSUE=Epithelium; RX PubMed=16916647; DOI=10.1016/j.molcel.2006.06.026; RA Kim S.C., Sprung R., Chen Y., Xu Y., Ball H., Pei J., Cheng T., RA Kho Y., Xiao H., Xiao L., Grishin N.V., White M., Yang X.-J., Zhao Y.; RT "Substrate and functional diversity of lysine acetylation revealed by RT a proteomics survey."; RL Mol. Cell 23:607-618(2006). RN [28] RP SYNTHESIS OF 33-42, AND FUNCTION. RX PubMed=16904236; DOI=10.1016/j.peptides.2006.06.009; RA Ianzer D., Konno K., Xavier C.H., Stoecklin R., Santos R.A.S., RA de Camargo A.C.M., Pimenta D.C.; RT "Hemorphin and hemorphin-like peptides isolated from dog pancreas and RT sheep brain are able to potentiate bradykinin activity in vivo."; RL Peptides 27:2957-2966(2006). RN [29] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-131, AND MASS RP SPECTROMETRY. RX PubMed=18083107; DOI=10.1016/j.cell.2007.11.025; RA Rikova K., Guo A., Zeng Q., Possemato A., Yu J., Haack H., Nardone J., RA Lee K., Reeves C., Li Y., Hu Y., Tan Z., Stokes M., Sullivan L., RA Mitchell J., Wetzel R., Macneill J., Ren J.M., Yuan J., RA Bakalarski C.E., Villen J., Kornhauser J.M., Smith B., Li D., Zhou X., RA Gygi S.P., Gu T.-L., Polakiewicz R.D., Rush J., Comb M.J.; RT "Global survey of phosphotyrosine signaling identifies oncogenic RT kinases in lung cancer."; RL Cell 131:1190-1203(2007). RN [30] RP ELECTRON MICROSCOPY OF SICKLE-CELL HEMOGLOBIN FIBERS. RX PubMed=4123689; RA Finch J.T., Perutz M.F., Bertles J.F., Doebler J.; RT "Structure of sickled erythrocytes and of sickle-cell hemoglobin RT fibers."; RL Proc. Natl. Acad. Sci. U.S.A. 70:718-722(1973). RN [31] RP X-RAY CRYSTALLOGRAPHY (5 ANGSTROMS) OF MUTANT VAL-7. RX PubMed=1195378; DOI=10.1016/S0022-2836(75)80108-2; RA Wishner B.C., Ward K.B., Lattman E.E., Love W.E.; RT "Crystal structure of sickle-cell deoxyhemoglobin at 5 A resolution."; RL J. Mol. Biol. 98:179-194(1975). RN [32] RP X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF DEOXYHEMOGLOBIN. RX MEDLINE=76027820; PubMed=1177322; DOI=10.1016/S0022-2836(75)80037-4; RA Fermi G.; RT "Three-dimensional fourier synthesis of human deoxyhaemoglobin at 2.5- RT A resolution: refinement of the atomic model."; RL J. Mol. Biol. 97:237-256(1975). RN [33] RP X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF CARBONMONOXY HEMOGLOBIN. RX PubMed=7373648; DOI=10.1016/0022-2836(80)90308-3; RA Baldwin J.M.; RT "The structure of human carbonmonoxy haemoglobin at 2.7-A RT resolution."; RL J. Mol. Biol. 136:103-128(1980). RN [34] RP X-RAY CRYSTALLOGRAPHY (1.74 ANGSTROMS) OF DEOXYHEMOGLOBIN. RX PubMed=6726807; DOI=10.1016/0022-2836(84)90472-8; RA Fermi G., Perutz M.F., Shaanan B., Fourme R.; RT "The crystal structure of human deoxyhaemoglobin at 1.74 A RT resolution."; RL J. Mol. Biol. 175:159-174(1984). RN [35] RP X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF VARIANT ROTHSCHILD ARG-38. RX MEDLINE=92232710; PubMed=1567857; DOI=10.1021/bi00131a030; RA Kavanaugh J.S., Rogers P.H., Case D.A., Arnone A.; RT "High-resolution X-ray study of deoxyhemoglobin Rothschild 37 beta RT Trp-->Arg: a mutation that creates an intersubunit chloride-binding RT site."; RL Biochemistry 31:4111-4121(1992). RN [36] RP X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF MUTANT ARG-75. RX PubMed=1507231; DOI=10.1016/0022-2836(92)90638-Z; RA Fermi G., Perutz M.F., Williamson D., Stein P., Shih D.T.; RT "Structure-function relationships in the low-affinity mutant RT haemoglobin Aalborg (Gly74 (E18)beta-->Arg)."; RL J. Mol. Biol. 226:883-888(1992). RN [37] RP X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS), AND BISPHOSPHOGLYCERATE RP BINDING. RX PubMed=8377203; DOI=10.1006/jmbi.1993.1505; RA Richard V., Dodson G.G., Mauguen Y.; RT "Human deoxyhaemoglobin-2,3-diphosphoglycerate complex low-salt RT structure at 2.5 A resolution."; RL J. Mol. Biol. 233:270-274(1993). RN [38] RP X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS). RX PubMed=8642597; DOI=10.1006/jmbi.1996.0124; RA Paoli M., Liddington R., Tame J., Wilkinson A., Dodson G.; RT "Crystal structure of T state haemoglobin with oxygen bound at all RT four haems."; RL J. Mol. Biol. 256:775-792(1996). RN [39] RP X-RAY CRYSTALLOGRAPHY (1.8 ANGSTROMS) OF MUTANTS ALA-38; GLU-38; RP GLY-38 AND TYR-38. RX PubMed=9521756; DOI=10.1021/bi9708702; RA Kavanaugh J.S., Weydert J.A., Rogers P.H., Arnone A.; RT "High-resolution crystal structures of human hemoglobin with mutations RT at tryptophan 37beta: structural basis for a high-affinity T-state."; RL Biochemistry 37:4358-4373(1998). RN [40] RP X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF MUTANT TRP-7. RX PubMed=9830011; DOI=10.1074/jbc.273.49.32690; RA Harrington D.J., Adachi K., Royer W.E. Jr.; RT "Crystal structure of deoxy-human hemoglobin beta6 Glu-->Trp. RT Implications for the structure and formation of the sickle cell RT fiber."; RL J. Biol. Chem. 273:32690-32696(1998). RN [41] RP X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF MUTANT LYS-7. RX PubMed=12454462; DOI=10.1107/S0907444902016426; RA Dewan J.C., Feeling-Taylor A., Puius Y.A., Patskovska L., RA Patskovsky Y., Nagel R.L., Almo S.C., Hirsch R.E.; RT "Structure of mutant human carbonmonoxyhemoglobin C (betaE6K) at 2.0 A RT resolution."; RL Acta Crystallogr. D 58:2038-2042(2002). RN [42] RP VARIANT ALABAMA LYS-40. RX MEDLINE=75109326; PubMed=1115799; RA Brimhall B., Jones R.T., Schneider R.G., Hosty T.S., Tomlin G., RA Atkins R.; RT "Two new hemoglobins. Hemoglobin Alabama (beta39(C5)Gln leads to Lys) RT and hemoglobin Montgomery (alpha 48(CD 6) Leu leads to Arg)."; RL Biochim. Biophys. Acta 379:28-32(1975). RN [43] RP INVOLVEMENT IN HEINZ BODY ANEMIAS, AND VARIANT ST LOUIS GLN-29. RX PubMed=186485; RA Thillet J., Cohen-Solal M., Seligmann M., Rosa J.; RT "Functional and physicochemical studies of hemoglobin St. Louis beta RT 28 (B10) Leu replaced by Gln: a variant with ferric beta heme iron."; RL J. Clin. Invest. 58:1098-1106(1976). RN [44] RP INVOLVEMENT IN DOMINANT BETA-THALASSEMIA INCLUSION BODY TYPE. RX PubMed=1971109; RA Thein S.L., Hesketh C., Taylor P., Temperley I.J., Hutchinson R.M., RA Old J.M., Wood W.G., Clegg J.B., Weatherall D.J.; RT "Molecular basis for dominantly inherited inclusion body beta- RT thalassemia."; RL Proc. Natl. Acad. Sci. U.S.A. 87:3924-3928(1990). RN [45] RP VARIANT ALESHA MET-68. RX MEDLINE=93322192; PubMed=8330974; RA Molchanova T.P., Postnikov Y.V., Pobedimskaya D.D., Smetanina N.S., RA Moschan A.A., Kazanetz E.G., Tokarev Y.N., Huisman T.H.J.; RT "Hb Alesha or alpha 2 beta (2)67(E11)Val-->Met: a new unstable RT hemoglobin variant identified through sequencing of amplified DNA."; RL Hemoglobin 17:217-225(1993). RN [46] RP VARIANT J-ALTGELDS GARDENS ASP-93. RX MEDLINE=79067354; PubMed=721609; RA Adams J.G. III, Przywara K.P., Heller P., Shamsuddin M.; RT "Hemoglobin J Altgeld Gardens. A hemoglobin variant with a RT substitution of the proximal histidine of the beta-chain."; RL Hemoglobin 2:403-415(1978). RN [47] RP VARIANT ANKARA ASP-11. RX MEDLINE=74297498; PubMed=4850241; DOI=10.1016/0014-5793(74)80766-0; RA Arcasoy A., Casey R., Lehmann H., Cavdar A.O., Berki A.; RT "A new haemoglobin J from Turkey -- Hb Ankara (beta10 (A7) Ala-Asp)."; RL FEBS Lett. 42:121-123(1974). RN [48] RP VARIANTS J-ANTAKYA MET-66 AND COMPLUTENSE GLU-128. RX MEDLINE=86216227; PubMed=3707969; DOI=10.1016/0167-4838(86)90178-0; RA Huisman T.H.J., Wilson J.B., Kutlar A., Yang K.-G., Chen S.-S., RA Webber B.B., Altay C., Martinez A.V.; RT "Hb J-Antakya or alpha 2 beta (2)65(E9)Lys-->Met in a Turkish family RT and Hb complutense or alpha 2 beta (2)127(H5)Gln-->Glu in a Spanish RT family; correction of a previously published identification."; RL Biochim. Biophys. Acta 871:229-231(1986). RN [49] RP VARIANT J-AUCKLAND ASP-26. RX MEDLINE=88006903; PubMed=3654265; RA Williamson D., Wells R.M.G., Anderson R., Matthews J.; RT "A new unstable and low oxygen affinity hemoglobin variant: Hb J- RT Auckland [beta 25(B7)Gly-->Asp]."; RL Hemoglobin 11:221-230(1987). RN [50] RP VARIANT AURORA TYR-140. RX MEDLINE=96352910; PubMed=8718692; RA Lafferty J., Ali M., Matthew K., Eng B., Patterson M., Waye J.S.; RT "Identification of a new high oxygen affinity hemoglobin variant: Hb RT Aurora [beta 139(H17) Asn-->Tyr]."; RL Hemoglobin 19:335-341(1995). RN [51] RP VARIANT BREST LYS-128. RX MEDLINE=88256755; PubMed=3384710; RA Baudin-Chich V., Wajcman H., Gombaud-Saintonge G., Arous N., Riou J., RA Briere J., Galacteros F.; RT "Hemoglobin Brest [beta 127 (H5)Gln-->Lys] a new unstable human RT hemoglobin variant located at the alpha 1 beta 1 interface with RT specific electrophoretic behavior."; RL Hemoglobin 12:179-188(1988). RN [52] RP VARIANT BRISBANE HIS-69. RX MEDLINE=81239159; PubMed=6166590; RA Brennan S.O., Wells R.M., Smith H., Carrell R.W.; RT "Hemoglobin Brisbane: beta68 Leu replaced by His. A new high oxygen RT affinity variant."; RL Hemoglobin 5:325-335(1981). RN [53] RP VARIANT BUNBURY ASN-95. RX MEDLINE=84031649; PubMed=6629823; RA Como P.F., Kennett D., Wilkinson T., Kronenberg H.; RT "A new hemoglobin with high oxygen affinity -- hemoglobin Bunbury: RT alpha 2 beta 2 [94 (FG1) Asp replaced by Asn]."; RL Hemoglobin 7:413-421(1983). RN [54] RP VARIANT J-CAIRO GLN-66. RX MEDLINE=76114933; PubMed=1247583; RA Garel M.-C., Hassan W., Coquelet M.T., Goossens M., Rosa J., Arous N.; RT "Hemoglobin J Cairo: beta 65 (E9) Lys leads to Gln, A new hemoglobin RT variant discovered in an Egyptian family."; RL Biochim. Biophys. Acta 420:97-104(1976). RN [55] RP VARIANT CAMPERDOWN SER-105. RX MEDLINE=75184109; PubMed=1138922; RA Wilkinson T., Chua C.G., Carrell R.W., Robin H., Exner T., Lee K.M., RA Kronenberg H.; RT "A new haemoglobin variant, haemoglobin Camperdown (beta 104 (G6) RT arginine->serine)."; RL Biochim. Biophys. Acta 393:195-200(1975). RN [56] RP VARIANT CARIBBEAN ARG-92. RX MEDLINE=77048866; PubMed=992050; DOI=10.1016/0014-5793(76)80662-X; RA Ahern E., Ahern V., Hilton T., Serjeant G.R., Serjeant B.E., RA Seakins M., Lang A., Middleton A., Lehmann H.; RT "Haemoglobin caribbean beta91 (F7) Leu replaced by Arg: a mildly RT haemoglobin with a low oxygen affinity."; RL FEBS Lett. 69:99-102(1976). RN [57] RP VARIANT CITY OF HOPE SER-70. RX MEDLINE=85006311; PubMed=6434492; RA Rahbar S., Asmerom Y., Blume K.G.; RT "A silent hemoglobin variant detected by HPLC: hemoglobin City of Hope RT beta 69 (E13) Gly-->Ser."; RL Hemoglobin 8:333-342(1984). RN [58] RP VARIANT COIMBRA GLU-100. RX MEDLINE=92267852; PubMed=1814856; RA Tamagnini G.P., Ribeiro M.L., Valente V., Ramachandran M., RA Wilson J.B., Baysal E., Gu L.H., Huisman T.H.J.; RT "Hb Coimbra or alpha 2 beta (2)99(G1)Asp-->Glu, a newly discovered RT high oxygen affinity variant."; RL Hemoglobin 15:487-496(1991). RN [59] RP VARIANT COSTA RICA ARG-78. RX MEDLINE=96235282; PubMed=8641705; DOI=10.1007/s004390050145; RA Romero W.E.R., Castillo M., Chaves M.A., Saenz G.F., Gu L.-H., RA Wilson J.B., Baysal E., Smetanina N.S., Leonova J.Y., Huisman T.H.J.; RT "Hb Costa Rica or alpha 2 beta 2 77(EF1)His-->Arg: the first example RT of a somatic cell mutation in a globin gene."; RL Hum. Genet. 97:829-833(1996). RN [60] RP VARIANT DEBROUSSE PRO-97. RX MEDLINE=96180033; PubMed=8602627; RA Lacan P., Kister J., Francina A., Souillet G., Galacteros F., RA Delaunay J., Wajcman H.; RT "Hemoglobin Debrousse (beta 96[FG3]Leu-->Pro): a new unstable RT hemoglobin with twofold increased oxygen affinity."; RL Am. J. Hematol. 51:276-281(1996). RN [61] RP VARIANT DHONBURI GLY-127. RX MEDLINE=90379198; PubMed=2399911; RA Bardakdjian-Michau J., Fucharoen S., Delanoe-Garin J., Kister J., RA Lacombe C., Winichagoon P., Blouquit Y., Riou J., Wasi P., RA Galacteros F.; RT "Hemoglobin Dhonburi alpha 2 beta 2 126 (H4) Val-->Gly: a new unstable RT beta variant producing a beta-thalassemia intermedia phenotype in RT association with beta zero-thalassemia."; RL Am. J. Hematol. 35:96-99(1990). RN [62] RP VARIANTS NEWCASTLE PRO-93 AND CAMPERDOWN SER-105, AND DESCRIPTION OF RP VARIANT DUINO. RX MEDLINE=92380658; PubMed=1511986; DOI=10.1007/BF00221961; RA Wajcman H., Blouquit Y., Vasseur C., le Querrec A., Laniece M., RA Melevendi C., Rasore A., Galacteros F.; RT "Two new human hemoglobin variants caused by unusual mutational RT events: Hb Zaire contains a five residue repetition within the alpha- RT chain and Hb Duino has two residues substituted in the beta-chain."; RL Hum. Genet. 89:676-680(1992). RN [63] RP VARIANT DURHAM-N.C. PRO-115. RX MEDLINE=93244842; PubMed=1301199; RA Murru S., Poddie D., Sciarratta G.V., Agosti S., Baffico M., RA Melevendi C., Pirastu M., Cao A.; RT "A novel beta-globin structural mutant, Hb Brescia (beta 114 Leu-Pro), RT causing a severe beta-thalassemia intermedia phenotype."; RL Hum. Mutat. 1:124-128(1992). RN [64] RP VARIANT DURHAM-N.C. PRO-115. RX MEDLINE=94154273; PubMed=8111050; RA de Castro C.M., Devlin B., Fleenor D.E., Lee M.E., Kaufman R.E.; RT "A novel beta-globin mutation, beta Durham-NC [beta 114 Leu-->Pro], RT produces a dominant thalassemia-like phenotype."; RL Blood 83:1109-1116(1994). RN [65] RP VARIANT J-EUROPA ASP-63. RX MEDLINE=96407264; PubMed=8811317; RA Kiger L., Kister J., Groff P., Kalmes G., Prome D., Galacteros F., RA Wajcman H.; RT "Hb J-Europa [beta 62(E6)Ala-->Asp]: normal oxygen binding properties RT in a new variant involving a residue located distal to the heme."; RL Hemoglobin 20:135-140(1996). RN [66] RP VARIANT GEELONG ASP-140. RX MEDLINE=92010939; PubMed=1917539; RA Como P.F., Hocking D.R., Swinton G.W., Trent R.J., Holland R.A.B., RA Tibben E.A., Wilkinson T., Kronenberg H.; RT "Hb Geelong [beta 139(H17)Asn-->Asp]."; RL Hemoglobin 15:85-95(1991). RN [67] RP VARIANT GRANGE-BLANCHE VAL-28. RX MEDLINE=88030044; PubMed=3666141; DOI=10.1016/0014-5793(87)80509-4; RA Baklouti F., Giraud Y., Francina A., Richard G., Perier C., RA Geyssant A., Jaubert J., Brizard C., Delaunay J.; RT "Hemoglobin Grange-Blanche [beta 27(B9) Ala-->Val], a new variant with RT normal expression and increased affinity for oxygen."; RL FEBS Lett. 223:59-62(1987). RN [68] RP VARIANT GRAZ LEU-3. RX MEDLINE=93138927; PubMed=1487420; RA Liu J.S., Molchanova T.P., Gu L.H., Wilson J.B., Hopmeier P., RA Schnedl W., Balaun E., Krejs G.J., Huisman T.H.J.; RT "Hb Graz or alpha 2 beta 2(2)(NA2)His-->Leu; a new beta chain variant RT observed in four families from southern Austria."; RL Hemoglobin 16:493-501(1992). RN [69] RP VARIANT HELSINKI MET-83. RX MEDLINE=77062201; PubMed=826083; RA Ikkala E., Koskela J., Pikkarainen P., Rahiala E.-L., El-Hazmi M.A.F., RA Nagai K., Lang A., Lehmann H.; RT "Hb Helsinki: a variant with a high oxygen affinity and a substitution RT at a 2,3-DPG binding site (beta82[EF6] Lys replaced by Met)."; RL Acta Haematol. 56:257-275(1976). RN [70] RP VARIANT HIMEJI ASP-141. RX MEDLINE=86167527; PubMed=3754244; RA Ohba Y., Miyaji T., Murakami M., Kadowaki S., Fujita T., Oimomi M., RA Hatanaka H., Ishikawa K., Baba S., Hitaka K., Imai K.; RT "Hb Himeji or beta 140 (H18) Ala-->Asp. A slightly unstable hemoglobin RT with increased beta N-terminal glycation."; RL Hemoglobin 10:109-126(1986). RN [71] RP VARIANT HINSDALE LYS-140. RX MEDLINE=90093866; PubMed=2513289; RA Moo-Penn W.F., Johnson M.H., Jue D.L., Lonser R.; RT "Hb Hinsdale [beta 139 (H17)Asn-->Lys]: a variant in the central RT cavity showing reduced affinity for oxygen and 2,3- RT diphosphoglycerate."; RL Hemoglobin 13:455-464(1989). RN [72] RP VARIANT HINWIL ASN-39. RX MEDLINE=96351651; PubMed=8745430; RA Frischknecht H., Ventruto M., Hess D., Hunziker P., Rosatelli M.C., RA Cao A., Breitenstein U., Fehr J., Tuchschmid P.; RT "HB Hinwil or beta 38(C4)Thr-->Asn: a new beta chain variant detected RT in a Swiss family."; RL Hemoglobin 20:31-40(1996). RN [73] RP VARIANT HOWICK GLY-38. RX MEDLINE=94193408; PubMed=8144352; RA Owen M.C., Ockelford P.A., Wells R.M.G.; RT "Hb Howick [beta 37(C3)Trp-->Gly]: a new high oxygen affinity variant RT of the alpha 1 beta 2 contact."; RL Hemoglobin 17:513-521(1993). RN [74] RP VARIANT INDIANAPOLIS ARG-113. RX MEDLINE=79151109; PubMed=429365; RA Adams J.G. III, Steinberg M.H., Boxer L.A., Baehner R.L., Forget B.G., RA Tsistrakis G.A.; RT "The structure of hemoglobin Indianapolis [beta112(G14) arginine]. An RT unstable variant detectable only by isotopic labeling."; RL J. Biol. Chem. 254:3479-3482(1979). RN [75] RP VARIANT ISEHARA ASN-93. RX MEDLINE=92155974; PubMed=1787097; RA Harano T., Harano K., Kushida Y., Ueda S., Yoshii A., Nishinarita M.; RT "Hb Isehara (or Hb Redondo) [beta 92 (F8) His-->Asn]: an unstable RT variant with a proximal histidine substitution at the heme contact."; RL Hemoglobin 15:279-290(1991). RN [76] RP VARIANT ISTAMBUL GLN-93. RX MEDLINE=73054825; PubMed=4639022; RA Aksoy M., Erdem S., Efremov G.D., Wilson J.B., Huisman T.H.J., RA Schroeder W.A., Shelton J.R., Shelton J.B., Ulitin O.N., Muftuoglu A.; RT "Hemoglobin Istanbul: substitution of glutamine for histidine in a RT proximal histidine (F8(92))."; RL J. Clin. Invest. 51:2380-2387(1972). RN [77] RP VARIANT JACKSONVILLE ASP-55. RX MEDLINE=91331861; PubMed=2101840; RA Gaudry C.L. Jr., Pitel P.A., Jue D.L., Hine T.K., Johnson M.H., RA Moo-Penn W.F.; RT "Hb Jacksonville [alpha 2 beta 2(54)(D5)Val-->Asp]: a new unstable RT variant found in a patient with hemolytic anemia."; RL Hemoglobin 14:653-659(1990). RN [78] RP VARIANT JIANGHUA ILE-121. RX MEDLINE=84007581; PubMed=6618888; RA Lu Y.Q., Fan J.L., Liu J.F., Hu H.L., Peng X.H., Huang C.-H., RA Huang P.Y., Chen S.S., Jai P.C., Yang K.G.; RT "Hemoglobin Jianghua [beta 120(GH3) Lys leads to Ile]: a new fast- RT moving variant found in China."; RL Hemoglobin 7:321-326(1983). RN [79] RP VARIANT KARLSKOGA HIS-22. RX MEDLINE=93322190; PubMed=8330972; RA Landin B.; RT "Hb Karlskoga or alpha 2 beta (2)21(B3) Asp-->His: a new slow-moving RT variant found in Sweden."; RL Hemoglobin 17:201-208(1993). RN [80] RP VARIANT KNOSSOS SER-28. RX MEDLINE=83079719; PubMed=7173395; DOI=10.1016/0014-5793(82)81052-1; RA Arous N., Galacteros F., Fessas P., Loukopoulos D., Blouquit Y., RA Komis G., Sellaye M., Boussiou M., Rosa J.; RT "Structural study of hemoglobin Knossos, beta 27 (B9) Ala leads to RT Ser. A new abnormal hemoglobin present as a silent beta-thalassemia."; RL FEBS Lett. 147:247-250(1982). RN [81] RP VARIANT KODAIRA GLN-147. RX MEDLINE=92340295; PubMed=1634367; RA Harano T., Harano K., Kushida Y., Imai K., Nishinakamura R., RA Matsunaga T.; RT "Hb Kodaira [beta 146(HC3)His-->Gln]: a new beta chain variant with an RT amino acid substitution at the C-terminus."; RL Hemoglobin 16:85-91(1992). RN [82] RP VARIANT KOFU ILE-85. RX MEDLINE=86303641; PubMed=3744871; RA Harano T., Harano K., Ueda S., Imai N., Kitazumi T.; RT "A new electrophoretically-silent hemoglobin variant: hemoglobin Kofu RT or alpha 2 beta 2 84 (EF8) Thr-->Ile."; RL Hemoglobin 10:417-420(1986). RN [83] RP VARIANT HRADEC KRALOVE ASP-116. RX MEDLINE=94042221; PubMed=7693620; RA Divoky V., Svobodova M., Indrak K., Chrobak L., Molchanova T.P., RA Huisman T.H.J.; RT "Hb Hradec Kralove (Hb HK) or alpha 2 beta 2 115(G17)Ala-->Asp, a RT severely unstable hemoglobin variant resulting in a dominant beta- RT thalassemia trait in a Czech family."; RL Hemoglobin 17:319-328(1993). RN [84] RP VARIANT LA DESIRADE VAL-130. RX MEDLINE=87165149; PubMed=3557994; RA Merault G., Keclard L., Garin J., Poyart C., Blouquit Y., Arous N., RA Galacteros F., Feingold J., Rosa J.; RT "Hemoglobin La Desirade alpha A2 beta 2 129 (H7) Ala-->Val: a new RT unstable hemoglobin."; RL Hemoglobin 10:593-605(1986). RN [85] RP VARIANT LA ROCHE-SUR-YON HIS-82. RX MEDLINE=92172947; PubMed=1540659; DOI=10.1016/0925-4439(92)90052-O; RA Wajcman H., Kister J., Vasseur C., Blouquit Y., Trastour J.C., RA Cottenceau D., Galacteros F.; RT "Structure of the EF corner favors deamidation of asparaginyl residues RT in hemoglobin: the example of Hb La Roche-sur-Yon [beta 81 (EF5) RT Leu-->His]."; RL Biochim. Biophys. Acta 1138:127-132(1992). RN [86] RP VARIANT LAS PALMAS PHE-50. RX MEDLINE=88256753; PubMed=3384708; RA Malcorra-Azpiazu J.J., Balda-Aguirre M.I., Diaz-Chico J.C., Hu H., RA Wilson J.B., Webber B.B., Kutlar F., Kutlar A., Huisman T.H.J.; RT "Hb Las Palmas or alpha 2 beta 2(49)(CD8)Ser-->Phe, a mildly unstable RT hemoglobin variant."; RL Hemoglobin 12:163-170(1988). RN [87] RP VARIANT LINKOPING THR-37. RX MEDLINE=88083482; PubMed=3691763; RA Berlin G., Wranne B., Jeppsson J.-O.; RT "Hb Linkoping (beta 36 Pro-->Thr): a new high oxygen affinity RT hemoglobin variant found in two families of Finnish origin."; RL Eur. J. Haematol. 39:452-456(1987). RN [88] RP VARIANT MAPUTO TYR-48. RX MEDLINE=84031650; PubMed=6629824; RA Marinucci M., Boissel J.P., Massa A., Wajcman H., Tentori L., RA Labie D.; RT "Hemoglobin Maputo: a new beta-chain variant (alpha 2 beta 2 47 (CD6) RT Asp replaced by Tyr) in combination with hemoglobin S, identified by RT high performance liquid chromatography (HPLC)."; RL Hemoglobin 7:423-433(1983). RN [89] RP VARIANT MATERA LYS-56. RX MEDLINE=90346586; PubMed=2384314; RA Sciarratta G.V., Ivaldi G.; RT "Hb Matera [beta 55(D6)Met-->Lys]: a new unstable hemoglobin variant RT in an Italian family."; RL Hemoglobin 14:79-85(1990). RN [90] RP VARIANT MIYASHIRO GLY-24. RX MEDLINE=82166873; PubMed=7338468; RA Nakatsuji T., Miwa S., Ohba Y., Hattori Y., Miyaji T., Miyata H., RA Shinohara T., Hori T., Takayama J.; RT "Hemoglobin Miyashiro (beta 23[B5] val substituting for gly) an RT electrophoretically silent variant discovered by the isopropanol RT test."; RL Hemoglobin 5:653-666(1981). RN [91] RP VARIANT MIZUHO PRO-69. RX MEDLINE=77248961; PubMed=893142; RA Ohba Y., Miyaji T., Matsuoka M., Sugiyama K., Suzuki T., Sugiura T.; RT "Hemoglobin Mizuho or beta 68 (E 12) leucine leads to proline, a new RT unstable variant associated with severe hemolytic anemia."; RL Hemoglobin 1:467-477(1977). RN [92] RP VARIANT MUSCAT VAL-33. RX MEDLINE=92387956; PubMed=1517102; RA Ramachandran M., Gu L.H., Wilson J.B., Kitundu M.N., Adekile A.D., RA Liu J.C., McKie K.M., Huisman T.H.J.; RT "A new variant, HB Muscat [alpha 2 beta (2)32(B14)Leu-->Val] observed RT in association with HB S in an Arabian family."; RL Hemoglobin 16:259-266(1992). RN [93] RP VARIANT N-TIMONE GLU-9. RX MEDLINE=90236754; PubMed=2634671; RA Lena-Russo D., Orsini A., Vovan L., Bardakdjian-Michau J., Lacombe C., RA Blouquit Y., Craescu C.T., Galacteros F.; RT "Hb N-Timone [alpha 2 beta 2(8)(A5)Lys-->Glu]: a new fast-moving RT variant with normal stability and oxygen affinity."; RL Hemoglobin 13:743-747(1989). RN [94] RP VARIANT NAGOYA PRO-98. RX MEDLINE=85206960; PubMed=3838976; RA Ohba Y., Imanaka M., Matsuoka M., Hattori Y., Miyaji T., Funaki C., RA Shibata K., Shimokata H., Kuzuya F., Miwa S.; RT "A new unstable, high oxygen affinity hemoglobin: Hb Nagoya or beta 97 RT (FG4) His-->Pro."; RL Hemoglobin 9:11-24(1985). RN [95] RP VARIANT D-NEATH ALA-122. RX MEDLINE=93322197; PubMed=8330979; RA Welch S.G., Bateman C.; RT "Hb D-Neath or beta 121 (GH4) Glu-->Ala: a new member of the Hb D RT family."; RL Hemoglobin 17:255-259(1993). RN [96] RP VARIANT NORTH CHICAGO SER-37. RX MEDLINE=86139289; PubMed=3937824; RA Rahbar S., Louis J., Lee T., Asmerom Y.; RT "Hemoglobin North Chicago (beta 36 [C2] proline-->serine): a new high RT affinity hemoglobin."; RL Hemoglobin 9:559-576(1985). RN [97] RP VARIANT NORTH SHORE-CARACAS GLU-135. RX MEDLINE=77246803; PubMed=891976; DOI=10.1016/0014-5793(77)80453-5; RA Arends T., Lehmann H., Plowman D., Stathopoulou R.; RT "Haemoglobin North Shore-Caracas beta 134 (H12) valine replaced by RT glutamic acid."; RL FEBS Lett. 80:261-265(1977). RN [98] RP VARIANT OLOMOUC ASP-87. RX MEDLINE=87307470; PubMed=3623975; RA Indrak K., Wiedermann B.F., Batek F., Wilson J.B., Webber B.B., RA Kutlar A., Huisman T.H.J.; RT "Hb Olomouc or alpha 2 beta 2(86)(F2)Ala-->Asp, a new high oxygen RT affinity variant."; RL Hemoglobin 11:151-155(1987). RN [99] RP VARIANT PALMERSTON NORTH PHE-24. RX MEDLINE=83135041; PubMed=7161106; RA Brennan S.O., Williamson D., Whisson M.E., Carrell R.W.; RT "Hemoglobin Palmerston North beta 23 (B5) Val replaced by Phe. A new RT variant identified in a patient with polycythemia."; RL Hemoglobin 6:569-575(1982). RN [100] RP VARIANT PIERRE-BENITE ASP-91. RX MEDLINE=88256754; PubMed=3384709; RA Baklouti F., Giraud Y., Francina A., Richard G., Favre-Gilly J., RA Delaunay J.; RT "Hemoglobin Pierre-Benite [beta 90(F6)Glu-->Asp], a new high affinity RT variant found in a French family."; RL Hemoglobin 12:171-177(1988). RN [101] RP VARIANT PRESBYTERIAN LYS-109. RX MEDLINE=78215075; PubMed=668922; DOI=10.1016/0014-5793(78)80720-0; RA Moo-Penn W.F., Wolff J.A., Simon G., Vacek M., Jue D.L., Johnson M.H.; RT "Hemoglobin Presbyterian: beta108 (G10) asparagine leads to lysine, A RT hemoglobin variant with low oxygen affinity."; RL FEBS Lett. 92:53-56(1978). RN [102] RP VARIANT PUTTELANGE VAL-141. RX MEDLINE=96101899; PubMed=8522332; DOI=10.1007/BF00210304; RA Wajcman H., Girodon E., Prome D., North M.L., Plassa F., Duwig I., RA Kister J., Bergerat J.P., Oberling F., Lampert E., Lonsdorfer J., RA Goossens M., Galacteros F.; RT "Germline mosaicism for an alanine to valine substitution at residue RT beta 140 in hemoglobin Puttelange, a new variant with high oxygen RT affinity."; RL Hum. Genet. 96:711-716(1995). RN [103] RP VARIANT QUIN-HAI ARG-79. RX MEDLINE=84031648; PubMed=6629822; RA Jen P.C., Chen L.C., Chen P.F., Wong Y., Chen L.F., Guo Y.Y., RA Chang F.Q., Chow Y.C., Chiu Y.; RT "Hemoglobin Quin-Hai, beta 78 (EF2) Leu replaced by Arg, a new RT abnormal hemoglobin found in Guangdong, China."; RL Hemoglobin 7:407-412(1983). RN [104] RP VARIANT RAMBAM ASP-70. RX MEDLINE=98432396; PubMed=9761252; RA Bisse E., Zorn N., Eigel A., Lizama M., Huamam-Guillen P., Marz W., RA van Dorsselaer A., Wieland H.; RT "Hemoglobin Rambam (beta69[E13]Gly-->Asp), a pitfall in the assessment RT of diabetic control: characterization by electrospray mass RT spectrometry and HPLC."; RL Clin. Chem. 44:2172-2177(1998). RN [105] RP VARIANT RANDWICK GLY-16. RX MEDLINE=88256752; PubMed=3384707; RA Gilbert A.T., Fleming P.J., Sumner D.R., Hughes W.G., Ip F., RA Kwan Y.L., Holland R.A.B.; RT "Hemoglobin Randwick or beta 15 (A12)Trp-->Gly: a new unstable beta- RT chain hemoglobin variant."; RL Hemoglobin 12:149-161(1988). RN [106] RP VARIANT RIO GRANDE THR-9. RX MEDLINE=83185445; PubMed=6857757; RA Moo-Penn W.F., Johnson M.H., McGuffey J.E., Jue D.L., RA Therrell B.L. Jr.; RT "Hemoglobin Rio Grande [beta 8 (A5) Lys leads to Thr] a new variant RT found in a Mexican-American family."; RL Hemoglobin 7:91-95(1983). RN [107] RP VARIANT RUSH GLN-102. RX MEDLINE=74080282; PubMed=4129558; RA Adams J.G. III, Winter W.P., Tausk K., Heller P.; RT "Hemoglobin Rush (beta 101 (g3) glutamine): a new unstable hemoglobin RT causing mild hemolytic anemia."; RL Blood 43:261-269(1974). RN [108] RP VARIANT SAITAMA PRO-118. RX MEDLINE=83185440; PubMed=6687721; RA Ohba Y., Hasegawa Y., Amino H., Miwa S., Nakatsuji T., Hattori Y., RA Miyaji T.; RT "Hemoglobin Saitama or beta 117 (G19) His leads to Pro, a new variant RT causing hemolytic disease."; RL Hemoglobin 7:47-56(1983). RN [109] RP VARIANT M-SASKATOON TYR-64. RX PubMed=13897827; RA Gerald P.S., Efron M.L.; RT "Chemical studies of several varieties of Hb M."; RL Proc. Natl. Acad. Sci. U.S.A. 47:1758-1767(1961). RN [110] RP VARIANT SHELBY/LESLIE/DEACONESS LYS-132. RX MEDLINE=85130256; PubMed=6526653; RA Moo-Penn W.F., Johnson M.H., McGuffey J.E., Jue D.L.; RT "Hemoglobin Shelby [beta 131(H9) Gln-->Lys] a correction to the RT structure of hemoglobin Deaconess and hemoglobin Leslie."; RL Hemoglobin 8:583-593(1984). RN [111] RP VARIANT J-SICILIA ASN-66. RX MEDLINE=74302182; PubMed=4852224; DOI=10.1016/0014-5793(74)80050-5; RA Ricco G., Pich P.G., Mazza U., Rossi G., Ajmar P., Arese P., Gallo E.; RT "Hb J Sicilia: beta 65 (E9) Lys-Asn, a beta homologue of Hb Zambia."; RL FEBS Lett. 39:200-204(1974). RN [112] RP VARIANT STANMORE ALA-112. RX MEDLINE=92010936; PubMed=1917537; RA Como P.F., Wylie B.R., Trent R.J., Bruce D., Volpato F., Wilkinson T., RA Kronenberg H., Holland R.A.B., Tibben E.A.; RT "A new unstable and low oxygen affinity hemoglobin variant: Hb RT Stanmore [beta 111(G13)Val-->Ala]."; RL Hemoglobin 15:53-65(1991). RN [113] RP VARIANT ST MANDE TYR-103. RX MEDLINE=81212764; PubMed=7238856; DOI=10.1016/0014-5793(81)81046-0; RA Arous N., Braconnier F., Thillet J., Blouquit Y., Galacteros F., RA Chevrier M., Bordahandy C., Rosa J.; RT "Hemoglobin Saint Mande beta 102 (G4) asn replaced by tyr: a new low RT oxygen affinity variant."; RL FEBS Lett. 126:114-116(1981). RN [114] RP VARIANT WINDSOR ASP-12. RX MEDLINE=90093865; PubMed=2599880; RA Gilbert A.T., Fleming P.J., Sumner D.R., Hughes W.G., Holland R.A.B., RA Tibben E.A.; RT "Hemoglobin Windsor or beta 11 (A8)Val-->Asp: a new unstable beta- RT chain hemoglobin variant producing a hemolytic anemia."; RL Hemoglobin 13:437-453(1989). RN [115] RP VARIANT YAHATA TYR-113. RX MEDLINE=92010926; PubMed=1917530; RA Harano T., Harano K., Kushida Y., Ueda S.; RT "A new abnormal variant, Hb Yahata or beta 112(G14)Cys-->Tyr, found in RT a Japanese: structural confirmation by DNA sequencing of the beta- RT globin gene."; RL Hemoglobin 15:109-113(1991). RN [116] RP VARIANT YOKOHAMA PRO-32. RX MEDLINE=82166874; PubMed=7338469; RA Nakatsuji T., Miwa S., Ohba Y., Hattori Y., Miyaji T., Hino S., RA Matsumoto N.; RT "A new unstable hemoglobin, Hb Yokohama beta 31 (B13)Leu substituting RT for Pro, causing hemolytic anemia."; RL Hemoglobin 5:667-678(1981). RN [117] RP INVOLVEMENT IN HEINZ BODY ANEMIAS, AND VARIANT HAMMERSMITH SER-43. RX PubMed=6259091; RA Rahbar S., Feagler R.J., Beutler E.; RT "Hemoglobin Hammersmith (beta 42 (CD1) Phe replaced by Ser) associated RT with severe hemolytic anemia."; RL Hemoglobin 5:97-105(1981). RN [118] RP INVOLVEMENT IN HEINZ BODY ANEMIAS, AND VARIANTS BRUXELLES PHE-42 DEL RP AND PHE-43 DEL. RX PubMed=2599881; RA Blouquit Y., Bardakdjian J., Lena-Russo D., Arous N., Perrimond H., RA Orsini A., Rosa J., Galacteros F.; RT "Hb Bruxelles: alpha 2A beta (2)41 or 42(C7 or CD1)Phe deleted."; RL Hemoglobin 13:465-474(1989). RN [119] RP VARIANT ZENGCHENG MET-115. RX MEDLINE=91177717; PubMed=2079435; RA Plaseska D., Wilson J.B., Gu L.H., Kutlar F., Huisman T.H.J., RA Zeng Y.T., Shen M.; RT "Hb Zengcheng or alpha 2 beta(2)114(G16)Leu-->Met."; RL Hemoglobin 14:555-557(1990). RN [120] RP VARIANT NON-SPHEROCYTIC HAEMOLITIC ANEMIA GLY-68. RX PubMed=8280608; RA Fay K.C., Brennan S.O., Costello J.M., Potter H.C., Williamson D.A., RA Trent R.J., Ockelford P.A., Boswell D.R.; RT "Haemoglobin Manukau beta 67[E11] Val-->Gly: transfusion-dependent RT haemolytic anaemia ameliorated by coexisting alpha thalassaemia."; RL Br. J. Haematol. 85:352-355(1993). RN [121] RP INVOLVEMENT IN HEINZ BODY ANEMIAS, AND VARIANT BRISTOL ASP-68. RX PubMed=8704193; RA Rees D.C., Rochette J., Schofield C., Green B., Morris M., RA Parker N.E., Sasaki H., Tanaka A., Ohba Y., Clegg J.B.; RT "A novel silent posttranslational mechanism converts methionine to RT aspartate in hemoglobin Bristol (beta 67[E11] Val-Met->Asp)."; RL Blood 88:341-348(1996). RN [122] RP VARIANT IRAQ-HALABJA VAL-11. RX PubMed=10398311; RX DOI=10.1002/(SICI)1096-8652(199907)61:3<187::AID-AJH5>3.0.CO;2-7; RA Deutsch S., Darbellay R., Offord R.E., Frutiger A., Kister J., RA Wajcman H., Beris P.; RT "Hb Iraq-Halabja beta10 (A7) Ala-->Val (GCC-->GTC): a new beta-chain RT silent variant in a family with multiple Hb disorders."; RL Am. J. Hematol. 61:187-193(1999). RN [123] RP VARIANT VILLEJUIF ILE-124. RX PubMed=11300351; DOI=10.1081/HEM-100103071; RA Carbone V., Salzano A.M., Pagano L., Buffardi S., De Rosa C., RA Pucci P.; RT "Identification of Hb Villejuif [beta123(H1)Thr-->Ile] in Southern RT Italy."; RL Hemoglobin 25:67-78(2001). RN [124] RP VARIANT TSUKUMI TYR-118. RX PubMed=11300344; DOI=10.1081/HEM-100103076; RA North M.L., Duwig I., Riou J., Prome D., Yapo A.P., Kister J., RA Bardakdjian-Michau J., Cazenave J.-P., Wajcman H.; RT "Hb Tsukumi [beta117(G19)His-->Tyr] found in a Moroccan woman."; RL Hemoglobin 25:107-110(2001). RN [125] RP VARIANT CANTERBURY PHE-113. RX PubMed=11939514; DOI=10.1081/HEM-120002942; RA Brennan S.O., Potter H.C., Kubala L.M., Carnoutsos S.A., RA Ferguson M.M.; RT "Hb Canterbury [beta112(G14)Cys-->Phe]: a new, mildly unstable RT variant."; RL Hemoglobin 26:67-69(2002). RN [126] RP VARIANT PYRGOS ASP-84, AND VARIANT E LYS-27. RX PubMed=12144064; DOI=10.1081/HEM-120005459; RA Sawangareetrakul P., Svasti S., Yodsowon B., Winichagoon P., RA Srisomsap C., Svasti J., Fucharoen S.; RT "Double heterozygosity for Hb Pyrgos [beta83(EF7)Gly-->Asp] and Hb E RT [beta26(B8)Glu-->Lys] found in association with alpha-thalassemia."; RL Hemoglobin 26:191-196(2002). RN [127] RP VARIANT SANTANDER ASP-35. RX PubMed=12603091; DOI=10.1081/HEM-120016378; RA Villegas A., Ropero P., Nogales A., Gonzalez F.A., Mateo M., Mazo E., RA Rodrigo E., Arias M.; RT "Hb Santander [beta34(B16)Val-->Asp (GTC-->GAC)]: a new unstable RT variant found as a de novo mutation in a Spanish patient."; RL Hemoglobin 27:31-35(2003). RN [128] RP VARIANT NANTES LEU-35, AND VARIANT VEXIN LEU-117. RX PubMed=12908805; DOI=10.1081/HEM-120023384; RA Wajcman H., Bardakdjian-Michau J., Riou J., Prehu C., Kister J., RA Baudin-Creuza V., Prome D., Richelme-David S., Harousseau J.L., RA Galacteros F.; RT "Two new hemoglobin variants with increased oxygen affinity: Hb Nantes RT [beta34(B16)Val-->Leu] and Hb Vexin [beta116(G18)His-->Leu]."; RL Hemoglobin 27:191-199(2003). RN [129] RP VARIANT LYS-27. RX PubMed=15481886; DOI=10.1081/HEM-120040334; RA Flatz G., Sanguansermsri T., Sengchanh S., Horst D., Horst J.; RT "The 'hot-spot' of Hb E [beta26(B8)Glu-->Lys] in Southeast Asia: beta- RT globin anomalies in the Lao Theung population of southern Laos."; RL Hemoglobin 28:197-204(2004). CC -!- FUNCTION: Involved in oxygen transport from the lung to the CC various peripheral tissues. CC -!- FUNCTION: LVV-hemorphin-7 potentiates the activity of bradykinin, CC causing a decrease in blood pressure. CC -!- SUBUNIT: Heterotetramer of two alpha chains and two beta chains in CC adult hemoglobin A (HbA). CC -!- INTERACTION: CC P69905:HBA1; NbExp=1; IntAct=EBI-715554, EBI-714680; CC -!- TISSUE SPECIFICITY: Red blood cells. CC -!- PTM: Glucose reacts non-enzymatically with the N-terminus of the CC beta chain to form a stable ketoamine linkage. This takes place CC slowly and continuously throughout the 120-day life span of the CC red blood cell. The rate of glycation is increased in patients CC with diabetes mellitus. CC -!- PTM: S-nitrosylated; a nitric oxide group is first bound to Fe(2+) CC and then transferred to Cys-94 to allow capture of O(2). CC -!- PTM: Acetylated on Lys-60, Lys-83 and Lys-145 upon aspirin CC exposure. PubMed:16916647 reports the identification of HBB CC acetylated on Lys-145 in the cytosolic fraction of HeLa cells. CC This may results from a contamination of the sample. CC -!- MASS SPECTROMETRY: Mass=1310; Method=FAB; Range=33-42; CC Source=PubMed:1575724; CC -!- DISEASE: Defects in HBB may be a cause of Heinz body anemias CC [MIM:140700]. This is a form of non-spherocytic hemolytic anemia CC of Dacie type 1. After splenectomy, which has little benefit, CC basophilic inclusions called Heinz bodies are demonstrable in the CC erythrocytes. Before splenectomy, diffuse or punctate basophilia CC may be evident. Most of these cases are probably instances of CC hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz CC bodies are observed also with the Ivemark syndrome (asplenia with CC cardiovascular anomalies) and with glutathione peroxidase CC deficiency. CC -!- DISEASE: Defects in HBB are the cause of beta-thalassemia CC [MIM:141900, 604131]. The thalassemias are the most common CC monogenic diseases and occur mostly in Mediterranean and Southeast CC Asian populations. The hallmark of beta-thalassemia is an CC imbalance in globin-chain production in the adult HbA molecule. CC Absence of beta chain causes beta(0)-thalassemia, while reduced CC amounts of detectable beta globin causes beta(+)-thalassemia. In CC the severe forms of beta-thalassemia, the excess alpha globin CC chains accumulate in the developing erythroid precursors in the CC marrow. Their deposition leads to a vast increase in erythroid CC apoptosis that in turn causes ineffective erythropoiesis and CC severe microcytic hypochromic anemia. Clinically, beta-thalassemia CC is divided into thalassemia major (transfusion dependent), CC thalassemia intermedia (of intermediate severity), and thalassemia CC minor (asymptomatic). CC -!- DISEASE: Defects in HBB are the cause of sickle cell anemia CC [MIM:603903]; also known as sickle cell disease. Sickle cell CC anemia is characterized by abnormally shaped red cells resulting CC in chronic anemia and periodic episodes of pain, serious CC infections and damage to vital organs. Normal red blood cells are CC round and flexible and flow easily through blood vessels, but in CC sickle cell anemia, the abnormal hemoglobin (called Hb S) causes CC red blood cells to become stiff. They are C-shaped and resembles a CC sickle. These stiffer red blood cells can led to microvascular CC occlusion thus cutting off the blood supply to nearby tissues. CC -!- DISEASE: Defects in HBB are the cause of dominant beta-thalassemia CC inclusion body type [MIM:603902]. This form of beta-thalassemia is CC transmitted in an autosomal dominant fashion and is characterized CC by anemia, enlargement of the spleen, and gross abnormalities of CC the erythrocytes and their precursors. CC -!- MISCELLANEOUS: One molecule of 2,3-bisphospoglycerate can bind to CC two beta chains per hemoglobin tetramer. CC -!- SIMILARITY: Belongs to the globin family. CC -!- WEB RESOURCE: Name=HbVar; Note=Human hemoglobin variants and CC thalassemias; CC URL="http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBB"; CC -!- WEB RESOURCE: Name=GeneReviews; CC URL="http://www.genetests.org/query?gene=HBB"; CC -!- WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and CC polymorphism database; CC URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=HBB"; CC -!- WEB RESOURCE: Name=Wikipedia; Note=Hemoglobin entry; CC URL="http://en.wikipedia.org/wiki/Hemoglobin"; CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; M25079; AAA35597.1; -; mRNA. DR EMBL; V00499; CAA23758.1; -; Genomic_DNA. DR EMBL; DQ126270; AAZ39745.1; -; Genomic_DNA. DR EMBL; DQ126271; AAZ39746.1; -; Genomic_DNA. DR EMBL; DQ126272; AAZ39747.1; -; Genomic_DNA. DR EMBL; DQ126273; AAZ39748.1; -; Genomic_DNA. DR EMBL; DQ126274; AAZ39749.1; -; Genomic_DNA. DR EMBL; DQ126275; AAZ39750.1; -; Genomic_DNA. DR EMBL; DQ126276; AAZ39751.1; -; Genomic_DNA. DR EMBL; DQ126277; AAZ39752.1; -; Genomic_DNA. DR EMBL; DQ126278; AAZ39753.1; -; Genomic_DNA. DR EMBL; DQ126279; AAZ39754.1; -; Genomic_DNA. DR EMBL; DQ126280; AAZ39755.1; -; Genomic_DNA. DR EMBL; DQ126281; AAZ39756.1; -; Genomic_DNA. DR EMBL; DQ126282; AAZ39757.1; -; Genomic_DNA. DR EMBL; DQ126283; AAZ39758.1; -; Genomic_DNA. DR EMBL; DQ126284; AAZ39759.1; -; Genomic_DNA. DR EMBL; DQ126285; AAZ39760.1; -; Genomic_DNA. DR EMBL; DQ126286; AAZ39761.1; -; Genomic_DNA. DR EMBL; DQ126287; AAZ39762.1; -; Genomic_DNA. DR EMBL; DQ126288; AAZ39763.1; -; Genomic_DNA. DR EMBL; DQ126289; AAZ39764.1; -; Genomic_DNA. DR EMBL; DQ126290; AAZ39765.1; -; Genomic_DNA. DR EMBL; DQ126291; AAZ39766.1; -; Genomic_DNA. DR EMBL; DQ126292; AAZ39767.1; -; Genomic_DNA. DR EMBL; DQ126293; AAZ39768.1; -; Genomic_DNA. DR EMBL; DQ126294; AAZ39769.1; -; Genomic_DNA. DR EMBL; DQ126295; AAZ39770.1; -; Genomic_DNA. DR EMBL; DQ126296; AAZ39771.1; -; Genomic_DNA. DR EMBL; DQ126297; AAZ39772.1; -; Genomic_DNA. DR EMBL; DQ126298; AAZ39773.1; -; Genomic_DNA. DR EMBL; DQ126299; AAZ39774.1; -; Genomic_DNA. DR EMBL; DQ126300; AAZ39775.1; -; Genomic_DNA. DR EMBL; DQ126301; AAZ39776.1; -; Genomic_DNA. DR EMBL; DQ126302; AAZ39777.1; -; Genomic_DNA. DR EMBL; DQ126303; AAZ39778.1; -; Genomic_DNA. DR EMBL; DQ126304; AAZ39779.1; -; Genomic_DNA. DR EMBL; DQ126305; AAZ39780.1; -; Genomic_DNA. DR EMBL; DQ126306; AAZ39781.1; -; Genomic_DNA. DR EMBL; DQ126307; AAZ39782.1; -; Genomic_DNA. DR EMBL; DQ126308; AAZ39783.1; -; Genomic_DNA. DR EMBL; DQ126309; AAZ39784.1; -; Genomic_DNA. DR EMBL; DQ126310; AAZ39785.1; -; Genomic_DNA. DR EMBL; DQ126311; AAZ39786.1; -; Genomic_DNA. DR EMBL; DQ126312; AAZ39787.1; -; Genomic_DNA. DR EMBL; DQ126313; AAZ39788.1; -; Genomic_DNA. DR EMBL; DQ126314; AAZ39789.1; -; Genomic_DNA. DR EMBL; DQ126315; AAZ39790.1; -; Genomic_DNA. DR EMBL; DQ126316; AAZ39791.1; -; Genomic_DNA. DR EMBL; DQ126317; AAZ39792.1; -; Genomic_DNA. DR EMBL; DQ126318; AAZ39793.1; -; Genomic_DNA. DR EMBL; DQ126319; AAZ39794.1; -; Genomic_DNA. DR EMBL; DQ126320; AAZ39795.1; -; Genomic_DNA. DR EMBL; DQ126321; AAZ39796.1; -; Genomic_DNA. DR EMBL; DQ126322; AAZ39797.1; -; Genomic_DNA. DR EMBL; DQ126323; AAZ39798.1; -; Genomic_DNA. DR EMBL; DQ126324; AAZ39799.1; -; Genomic_DNA. DR EMBL; DQ126325; AAZ39800.1; -; Genomic_DNA. DR EMBL; AF007546; AAB62944.1; -; Genomic_DNA. DR EMBL; AF117710; AAD19696.1; -; mRNA. DR EMBL; AF181989; AAF00489.1; -; mRNA. DR EMBL; AF349114; AAK29639.1; -; mRNA. DR EMBL; AF527577; AAM92001.1; -; Genomic_DNA. DR EMBL; AY136510; AAN11320.1; -; mRNA. DR EMBL; AY163866; AAN84548.1; -; Genomic_DNA. DR EMBL; AY260740; AAP21062.1; -; Genomic_DNA. DR EMBL; CR536530; CAG38767.1; -; mRNA. DR EMBL; CR541913; CAG46711.1; -; mRNA. DR EMBL; BC007075; AAH07075.1; -; mRNA. DR EMBL; U01317; AAA16334.1; -; Genomic_DNA. DR EMBL; V00497; CAA23756.1; -; mRNA. DR EMBL; V00500; CAA23759.1; ALT_SEQ; mRNA. DR EMBL; L26462; AAA21100.1; -; Genomic_DNA. DR EMBL; L26463; AAA21101.1; -; Genomic_DNA. DR EMBL; L26464; AAA21102.1; -; Genomic_DNA. DR EMBL; L26465; AAA21103.1; -; Genomic_DNA. DR EMBL; L26466; AAA21104.1; -; Genomic_DNA. DR EMBL; L26467; AAA21105.1; -; Genomic_DNA. DR EMBL; L26468; AAA21106.1; -; Genomic_DNA. DR EMBL; L26469; AAA21107.1; -; Genomic_DNA. DR EMBL; L26470; AAA21108.1; -; Genomic_DNA. DR EMBL; L26471; AAA21109.1; -; Genomic_DNA. DR EMBL; L26472; AAA21110.1; -; Genomic_DNA. DR EMBL; L26473; AAA21111.1; -; Genomic_DNA. DR EMBL; L26474; AAA21112.1; -; Genomic_DNA. DR EMBL; L26475; AAA21113.1; -; Genomic_DNA. DR EMBL; L26476; AAA21114.1; -; Genomic_DNA. DR EMBL; L26477; AAA21115.1; -; Genomic_DNA. DR EMBL; L26478; AAA21116.1; -; Genomic_DNA. DR EMBL; L48213; AAA88063.1; -; Genomic_DNA. DR EMBL; L48214; AAA88061.1; -; Genomic_DNA. DR EMBL; L48215; AAA88059.1; -; Genomic_DNA. DR EMBL; L48216; AAA88065.1; -; Genomic_DNA. DR EMBL; L48217; AAA88067.1; -; Genomic_DNA. DR EMBL; M36640; AAA52634.1; -; Genomic_DNA. DR EMBL; M11428; AAA52633.1; -; mRNA. DR EMBL; M25113; AAA35966.1; -; mRNA. DR EMBL; L48932; AAA88054.1; -; Genomic_DNA. DR EMBL; A01592; CAA00182.1; -; Unassigned_DNA. DR PIR; A53136; HBHU. DR RefSeq; NP_000509.1; -. DR UniGene; Hs.523443; -. DR PDB; 1A00; X-ray; 2.00 A; B/D=3-147. DR PDB; 1A01; X-ray; 1.80 A; B/D=3-147. DR PDB; 1A0U; X-ray; 2.14 A; B/D=3-147. DR PDB; 1A0Z; X-ray; 2.00 A; B/D=3-147. DR PDB; 1A3N; X-ray; 1.80 A; B/D=1-147. DR PDB; 1A3O; X-ray; 1.80 A; B/D=1-147. DR PDB; 1ABW; X-ray; 2.00 A; B/D=3-147. DR PDB; 1ABY; X-ray; 2.60 A; B/D=3-147. DR PDB; 1AJ9; X-ray; 2.20 A; B=1-147. DR PDB; 1B86; X-ray; 2.50 A; B/D=1-147. DR PDB; 1BAB; X-ray; 1.50 A; B/D=1-147. DR PDB; 1BBB; X-ray; 1.70 A; B/D=1-147. DR PDB; 1BIJ; X-ray; 2.30 A; B/D=1-147. DR PDB; 1BUW; X-ray; 1.90 A; B/D=2-147. DR PDB; 1BZ0; X-ray; 1.50 A; B/D=1-147. DR PDB; 1BZ1; X-ray; 1.59 A; B/D=1-147. DR PDB; 1BZZ; X-ray; 1.59 A; B/D=1-147. DR PDB; 1C7B; X-ray; 1.80 A; B/D=3-147. DR PDB; 1C7C; X-ray; 1.80 A; B/D=3-147. DR PDB; 1C7D; X-ray; 1.80 A; B/D=3-147. DR PDB; 1CBL; X-ray; 1.80 A; A/B/C/D=1-147. DR PDB; 1CBM; X-ray; 1.74 A; A/B/C/D=1-147. DR PDB; 1CH4; X-ray; 2.50 A; A=2-129. DR PDB; 1CLS; X-ray; 1.90 A; B/D=1-147. DR PDB; 1CMY; X-ray; 3.00 A; B/D=1-147. DR PDB; 1COH; X-ray; 2.90 A; B/D=1-147. DR PDB; 1DKE; X-ray; 2.10 A; B/D=1-147. DR PDB; 1DXT; X-ray; 1.70 A; B/D=1-147. DR PDB; 1DXU; X-ray; 1.70 A; B/D=3-147. DR PDB; 1DXV; X-ray; 1.70 A; B/D=3-147. DR PDB; 1FN3; X-ray; 2.48 A; B/D=1-147. DR PDB; 1G9V; X-ray; 1.85 A; B/D=1-147. DR PDB; 1GBU; X-ray; 1.80 A; B/D=1-147. DR PDB; 1GBV; X-ray; 2.00 A; B/D=1-147. DR PDB; 1GLI; X-ray; 2.50 A; B/D=3-147. DR PDB; 1GZX; X-ray; 2.10 A; B/D=1-147. DR PDB; 1HAB; X-ray; 2.30 A; B/D=1-147. DR PDB; 1HAC; X-ray; 2.60 A; B/D=1-147. DR PDB; 1HBA; X-ray; 2.10 A; B/D=1-147. DR PDB; 1HBB; X-ray; 1.90 A; B/D=1-147. DR PDB; 1HBS; X-ray; 3.00 A; B/D/F/H=1-147. DR PDB; 1HCO; X-ray; 2.70 A; B=1-147. DR PDB; 1HDB; X-ray; 2.20 A; B/D=1-147. DR PDB; 1HGA; X-ray; 2.10 A; B/D=1-147. DR PDB; 1HGB; X-ray; 2.10 A; B/D=1-147. DR PDB; 1HGC; X-ray; 2.10 A; B/D=1-147. DR PDB; 1HHO; X-ray; 2.10 A; B=1-147. DR PDB; 1IRD; X-ray; 1.25 A; B=1-147. DR PDB; 1J3Y; X-ray; 1.55 A; B/D/F/H=1-147. DR PDB; 1J3Z; X-ray; 1.60 A; B/D/F/H=1-147. DR PDB; 1J40; X-ray; 1.45 A; B/D/F/H=1-147. DR PDB; 1J41; X-ray; 1.45 A; B/D/F/H=1-147. DR PDB; 1J7S; X-ray; 2.20 A; B/D=3-147. DR PDB; 1J7W; X-ray; 2.00 A; B/D=3-147. DR PDB; 1J7Y; X-ray; 1.70 A; B/D=3-147. DR PDB; 1JY7; X-ray; 3.20 A; B/D/Q/S/V/X=1-147. DR PDB; 1K0Y; X-ray; 1.87 A; B/D=1-147. DR PDB; 1K1K; X-ray; 2.00 A; B=1-147. DR PDB; 1KD2; X-ray; 1.87 A; B/D=1-147. DR PDB; 1LFL; X-ray; 2.70 A; B/D/Q/S=1-147. DR PDB; 1LFQ; X-ray; 2.60 A; B=1-147. DR PDB; 1LFT; X-ray; 2.60 A; B=1-147. DR PDB; 1LFV; X-ray; 2.80 A; B=1-147. DR PDB; 1LFY; X-ray; 3.30 A; B=1-147. DR PDB; 1LFZ; X-ray; 3.10 A; B=1-147. DR PDB; 1LJW; X-ray; 2.16 A; B=1-147. DR PDB; 1M9P; X-ray; 2.10 A; B/D=1-147. DR PDB; 1MKO; X-ray; 2.18 A; B/D=1-147. DR PDB; 1NEJ; X-ray; 2.10 A; B/D=1-147. DR PDB; 1NIH; X-ray; 2.60 A; B/D=1-147. DR PDB; 1NQP; X-ray; 1.73 A; B/D=1-147. DR PDB; 1O1I; X-ray; 2.30 A; B=1-147. DR PDB; 1O1J; X-ray; 1.90 A; B/D=1-147. DR PDB; 1O1K; X-ray; 2.00 A; B/D=1-147. DR PDB; 1O1L; X-ray; 1.80 A; B/D=1-147. DR PDB; 1O1M; X-ray; 1.85 A; B/D=1-147. DR PDB; 1O1N; X-ray; 1.80 A; B/D=1-147. DR PDB; 1O1O; X-ray; 1.80 A; B/D=1-147. DR PDB; 1O1P; X-ray; 1.80 A; B/D=1-147. DR PDB; 1QI8; X-ray; 1.80 A; B/D=3-147. DR PDB; 1QSH; X-ray; 1.70 A; B/D=1-147. DR PDB; 1QSI; X-ray; 1.70 A; B/D=1-147. DR PDB; 1QXD; X-ray; 2.25 A; B/D=1-147. DR PDB; 1QXE; X-ray; 1.85 A; B/D=1-147. DR PDB; 1R1X; X-ray; 2.15 A; B=1-147. DR PDB; 1R1Y; X-ray; 1.80 A; B/D=1-147. DR PDB; 1RPS; X-ray; 2.11 A; B/D=1-147. DR PDB; 1RQ3; X-ray; 1.91 A; B/D=1-147. DR PDB; 1RQ4; X-ray; 2.11 A; B/D=1-147. DR PDB; 1RQA; X-ray; 2.11 A; B/D=3-147. DR PDB; 1RVW; X-ray; 2.50 A; B=1-147. DR PDB; 1SDK; X-ray; 1.80 A; B/D=1-147. DR PDB; 1SDL; X-ray; 1.80 A; B/D=1-147. DR PDB; 1THB; X-ray; 1.50 A; B/D=1-147. DR PDB; 1UIW; X-ray; 1.50 A; B/D/F/H=1-147. DR PDB; 1VWT; X-ray; 1.90 A; B/D=1-147. DR PDB; 1XXT; X-ray; 1.91 A; B/D=1-147. DR PDB; 1XY0; X-ray; 1.99 A; B/D=1-147. DR PDB; 1XYE; X-ray; 2.13 A; B/D=1-147. DR PDB; 1XZ2; X-ray; 1.90 A; B/D=1-147. DR PDB; 1XZ4; X-ray; 2.00 A; B/D=1-147. DR PDB; 1XZ5; X-ray; 2.11 A; B/D=1-147. DR PDB; 1XZ7; X-ray; 1.90 A; B/D=1-147. DR PDB; 1XZU; X-ray; 2.16 A; B/D=1-147. DR PDB; 1XZV; X-ray; 2.11 A; B/D=1-147. DR PDB; 1Y09; X-ray; 2.25 A; B/D=1-147. DR PDB; 1Y0A; X-ray; 2.22 A; B/D=1-147. DR PDB; 1Y0C; X-ray; 2.30 A; B/D=1-147. DR PDB; 1Y0D; X-ray; 2.10 A; B/D=1-147. DR PDB; 1Y0T; X-ray; 2.14 A; B/D=3-147. DR PDB; 1Y0W; X-ray; 2.14 A; B/D=3-147. DR PDB; 1Y22; X-ray; 2.16 A; B/D=3-147. DR PDB; 1Y2Z; X-ray; 2.07 A; B/D=3-147. DR PDB; 1Y31; X-ray; 2.13 A; B/D=3-147. DR PDB; 1Y35; X-ray; 2.12 A; B/D=3-147. DR PDB; 1Y45; X-ray; 2.00 A; B/D=3-147. DR PDB; 1Y46; X-ray; 2.22 A; B/D=3-147. DR PDB; 1Y4B; X-ray; 2.10 A; B/D=3-147. DR PDB; 1Y4F; X-ray; 2.00 A; B/D=3-147. DR PDB; 1Y4G; X-ray; 1.91 A; B/D=3-147. DR PDB; 1Y4P; X-ray; 1.98 A; B/D=3-147. DR PDB; 1Y4Q; X-ray; 2.11 A; B/D=3-147. DR PDB; 1Y4R; X-ray; 2.22 A; B/D=3-147. DR PDB; 1Y4V; X-ray; 1.84 A; B/D=3-147. DR PDB; 1Y5F; X-ray; 2.14 A; B/D=3-147. DR PDB; 1Y5J; X-ray; 2.03 A; B/D=3-147. DR PDB; 1Y5K; X-ray; 2.20 A; B/D=3-147. DR PDB; 1Y7C; X-ray; 2.10 A; B/D=3-147. DR PDB; 1Y7D; X-ray; 1.90 A; B/D=3-147. DR PDB; 1Y7G; X-ray; 2.10 A; B/D=3-147. DR PDB; 1Y7Z; X-ray; 1.98 A; B/D=3-147. DR PDB; 1Y83; X-ray; 1.90 A; B/D=3-147. DR PDB; 1Y85; X-ray; 2.13 A; B/D=1-146. DR PDB; 1Y8W; X-ray; 2.90 A; B/D=1-147. DR PDB; 1YDZ; X-ray; 3.30 A; B/D=1-147. DR PDB; 1YE0; X-ray; 2.50 A; B/D=3-147. DR PDB; 1YE1; X-ray; 4.50 A; B/D=3-147. DR PDB; 1YE2; X-ray; 1.80 A; B/D=3-147. DR PDB; 1YEN; X-ray; 2.80 A; B/D=3-147. DR PDB; 1YEO; X-ray; 2.22 A; B/D=3-147. DR PDB; 1YEQ; X-ray; 2.75 A; B/D=3-147. DR PDB; 1YEU; X-ray; 2.12 A; B/D=3-147. DR PDB; 1YEV; X-ray; 2.11 A; B/D=3-147. DR PDB; 1YFF; X-ray; 2.40 A; B/D/F/H=1-147. DR PDB; 1YG5; X-ray; 2.70 A; B/D=3-147. DR PDB; 1YGD; X-ray; 2.73 A; B/D=3-147. DR PDB; 1YGF; X-ray; 2.70 A; B/D=3-147. DR PDB; 1YH9; X-ray; 2.20 A; B/D=1-147. DR PDB; 1YHE; X-ray; 2.10 A; B/D=1-147. DR PDB; 1YHR; X-ray; 2.60 A; B/D=1-147. DR PDB; 1YIE; X-ray; 2.40 A; B/D=3-147. DR PDB; 1YIH; X-ray; 2.00 A; B/D=3-147. DR PDB; 1YVQ; X-ray; 1.80 A; B/D=1-147. DR PDB; 1YVT; X-ray; 1.80 A; B=1-147. DR PDB; 1YZI; X-ray; 2.07 A; B=1-147. DR PDB; 2D5Z; X-ray; 1.45 A; B/D=1-147. DR PDB; 2D60; X-ray; 1.70 A; B/D=1-147. DR PDB; 2DN1; X-ray; 1.25 A; B=1-147. DR PDB; 2DN2; X-ray; 1.25 A; B/D=1-147. DR PDB; 2DN3; X-ray; 1.25 A; B=2-147. DR PDB; 2DXM; Neutron; 2.10 A; B/D=2-147. DR PDB; 2H35; NMR; -; B/D=2-147. DR PDB; 2HBC; X-ray; 2.10 A; B=1-147. DR PDB; 2HBD; X-ray; 2.20 A; B=1-147. DR PDB; 2HBE; X-ray; 2.00 A; B=1-147. DR PDB; 2HBF; X-ray; 2.20 A; B=1-147. DR PDB; 2HBS; X-ray; 2.05 A; B/D/F/H=1-147. DR PDB; 2HCO; X-ray; 2.70 A; B=1-147. DR PDB; 2HHD; X-ray; 2.20 A; B/D=1-147. DR PDB; 2HHE; X-ray; 2.20 A; B/D=4-147. DR PDB; 2YRS; X-ray; 2.30 A; B/D/K/O=2-147. DR PDB; 3D17; X-ray; 2.80 A; B/D=2-147. DR PDB; 4HHB; X-ray; 1.74 A; B/D=1-147. DR PDB; 6HBW; X-ray; 2.00 A; B/D=1-147. DR PDBsum; 1A00; -. DR PDBsum; 1A01; -. DR PDBsum; 1A0U; -. DR PDBsum; 1A0Z; -. DR PDBsum; 1A3N; -. DR PDBsum; 1A3O; -. DR PDBsum; 1ABW; -. DR PDBsum; 1ABY; -. DR PDBsum; 1AJ9; -. DR PDBsum; 1B86; -. DR PDBsum; 1BAB; -. DR PDBsum; 1BBB; -. DR PDBsum; 1BIJ; -. DR PDBsum; 1BUW; -. DR PDBsum; 1BZ0; -. DR PDBsum; 1BZ1; -. DR PDBsum; 1BZZ; -. DR PDBsum; 1C7B; -. DR PDBsum; 1C7C; -. DR PDBsum; 1C7D; -. DR PDBsum; 1CBL; -. DR PDBsum; 1CBM; -. DR PDBsum; 1CH4; -. DR PDBsum; 1CLS; -. DR PDBsum; 1CMY; -. DR PDBsum; 1COH; -. DR PDBsum; 1DKE; -. DR PDBsum; 1DXT; -. DR PDBsum; 1DXU; -. DR PDBsum; 1DXV; -. DR PDBsum; 1FN3; -. DR PDBsum; 1G9V; -. DR PDBsum; 1GBU; -. DR PDBsum; 1GBV; -. DR PDBsum; 1GLI; -. DR PDBsum; 1GZX; -. DR PDBsum; 1HAB; -. DR PDBsum; 1HAC; -. DR PDBsum; 1HBA; -. DR PDBsum; 1HBB; -. DR PDBsum; 1HBS; -. DR PDBsum; 1HCO; -. DR PDBsum; 1HDB; -. DR PDBsum; 1HGA; -. DR PDBsum; 1HGB; -. DR PDBsum; 1HGC; -. DR PDBsum; 1HHO; -. DR PDBsum; 1IRD; -. DR PDBsum; 1J3Y; -. DR PDBsum; 1J3Z; -. DR PDBsum; 1J40; -. DR PDBsum; 1J41; -. DR PDBsum; 1J7S; -. DR PDBsum; 1J7W; -. DR PDBsum; 1J7Y; -. DR PDBsum; 1JY7; -. DR PDBsum; 1K0Y; -. DR PDBsum; 1K1K; -. DR PDBsum; 1KD2; -. DR PDBsum; 1LFL; -. DR PDBsum; 1LFQ; -. DR PDBsum; 1LFT; -. DR PDBsum; 1LFV; -. DR PDBsum; 1LFY; -. DR PDBsum; 1LFZ; -. DR PDBsum; 1LJW; -. DR PDBsum; 1M9P; -. DR PDBsum; 1MKO; -. DR PDBsum; 1NEJ; -. DR PDBsum; 1NIH; -. DR PDBsum; 1NQP; -. DR PDBsum; 1O1I; -. DR PDBsum; 1O1J; -. DR PDBsum; 1O1K; -. DR PDBsum; 1O1L; -. DR PDBsum; 1O1M; -. DR PDBsum; 1O1N; -. DR PDBsum; 1O1O; -. DR PDBsum; 1O1P; -. DR PDBsum; 1QI8; -. DR PDBsum; 1QSH; -. DR PDBsum; 1QSI; -. DR PDBsum; 1QXD; -. DR PDBsum; 1QXE; -. DR PDBsum; 1R1X; -. DR PDBsum; 1R1Y; -. DR PDBsum; 1RPS; -. DR PDBsum; 1RQ3; -. DR PDBsum; 1RQ4; -. DR PDBsum; 1RQA; -. DR PDBsum; 1RVW; -. DR PDBsum; 1SDK; -. DR PDBsum; 1SDL; -. DR PDBsum; 1THB; -. DR PDBsum; 1UIW; -. DR PDBsum; 1VWT; -. DR PDBsum; 1XXT; -. DR PDBsum; 1XY0; -. DR PDBsum; 1XYE; -. DR PDBsum; 1XZ2; -. DR PDBsum; 1XZ4; -. DR PDBsum; 1XZ5; -. DR PDBsum; 1XZ7; -. DR PDBsum; 1XZU; -. DR PDBsum; 1XZV; -. DR PDBsum; 1Y09; -. DR PDBsum; 1Y0A; -. DR PDBsum; 1Y0C; -. DR PDBsum; 1Y0D; -. DR PDBsum; 1Y0T; -. DR PDBsum; 1Y0W; -. DR PDBsum; 1Y22; -. DR PDBsum; 1Y2Z; -. DR PDBsum; 1Y31; -. DR PDBsum; 1Y35; -. DR PDBsum; 1Y45; -. DR PDBsum; 1Y46; -. DR PDBsum; 1Y4B; -. DR PDBsum; 1Y4F; -. DR PDBsum; 1Y4G; -. DR PDBsum; 1Y4P; -. DR PDBsum; 1Y4Q; -. DR PDBsum; 1Y4R; -. DR PDBsum; 1Y4V; -. DR PDBsum; 1Y5F; -. DR PDBsum; 1Y5J; -. DR PDBsum; 1Y5K; -. DR PDBsum; 1Y7C; -. DR PDBsum; 1Y7D; -. DR PDBsum; 1Y7G; -. DR PDBsum; 1Y7Z; -. DR PDBsum; 1Y83; -. DR PDBsum; 1Y85; -. DR PDBsum; 1Y8W; -. DR PDBsum; 1YDZ; -. DR PDBsum; 1YE0; -. DR PDBsum; 1YE1; -. DR PDBsum; 1YE2; -. DR PDBsum; 1YEN; -. DR PDBsum; 1YEO; -. DR PDBsum; 1YEQ; -. DR PDBsum; 1YEU; -. DR PDBsum; 1YEV; -. DR PDBsum; 1YFF; -. DR PDBsum; 1YG5; -. DR PDBsum; 1YGD; -. DR PDBsum; 1YGF; -. DR PDBsum; 1YH9; -. DR PDBsum; 1YHE; -. DR PDBsum; 1YHR; -. DR PDBsum; 1YIE; -. DR PDBsum; 1YIH; -. DR PDBsum; 1YVQ; -. DR PDBsum; 1YVT; -. DR PDBsum; 1YZI; -. DR PDBsum; 2D5Z; -. DR PDBsum; 2D60; -. DR PDBsum; 2DN1; -. DR PDBsum; 2DN2; -. DR PDBsum; 2DN3; -. DR PDBsum; 2DXM; -. DR PDBsum; 2H35; -. DR PDBsum; 2HBC; -. DR PDBsum; 2HBD; -. DR PDBsum; 2HBE; -. DR PDBsum; 2HBF; -. DR PDBsum; 2HBS; -. DR PDBsum; 2HCO; -. DR PDBsum; 2HHD; -. DR PDBsum; 2HHE; -. DR PDBsum; 2YRS; -. DR PDBsum; 3D17; -. DR PDBsum; 4HHB; -. DR PDBsum; 6HBW; -. DR IntAct; P68871; -. DR PhosphoSite; P68871; -. DR SWISS-2DPAGE; P68871; -. DR HSC-2DPAGE; P68871; -. DR PMMA-2DPAGE; P68871; -. DR REPRODUCTION-2DPAGE; IPI00654755; -. DR REPRODUCTION-2DPAGE; P68871; -. DR Siena-2DPAGE; P68871; -. DR PeptideAtlas; P68871; -. DR Ensembl; ENSG00000188170; Homo sapiens. DR GeneID; 3043; -. DR KEGG; hsa:3043; -. DR HGNC; HGNC:4827; HBB. DR HPA; CAB009526; -. DR MIM; 140700; phenotype. DR MIM; 141900; gene+phenotype. DR MIM; 603902; phenotype. DR MIM; 603903; phenotype. DR MIM; 604131; phenotype. DR Orphanet; 848; Beta-thalassemia. DR Orphanet; 2132; Hemoglobin C disease. DR Orphanet; 2133; Hemoglobin E disease. DR Orphanet; 232; Sickle cell anaemia. DR PharmGKB; PA29202; -. DR HOVERGEN; P68871; -. DR DrugBank; DB00893; Iron Dextran. DR LinkHub; P68871; -. DR NextBio; 12048; -. DR ArrayExpress; P68871; -. DR GermOnline; ENSG00000188170; Homo sapiens. DR GO; GO:0005833; C:hemoglobin complex; TAS:UniProtKB. DR GO; GO:0030492; F:hemoglobin binding; IDA:UniProtKB. DR GO; GO:0019825; F:oxygen binding; IDA:UniProtKB. DR GO; GO:0005344; F:oxygen transporter activity; NAS:UniProtKB. DR GO; GO:0030185; P:nitric oxide transport; NAS:UniProtKB. DR GO; GO:0015671; P:oxygen transport; TAS:UniProtKB. DR GO; GO:0045429; P:positive regulation of nitric oxide biosynt...; NAS:UniProtKB. DR InterPro; IPR012292; Globin. DR InterPro; IPR000971; Globin_subset. DR InterPro; IPR002337; Haemoglobin_b. DR Gene3D; G3DSA:1.10.490.10; Globin_related; 1. DR Pfam; PF00042; Globin; 1. DR PRINTS; PR00814; BETAHAEM. DR PROSITE; PS01033; GLOBIN; 1. PE 1: Evidence at protein level; KW 3D-structure; Acetylation; Direct protein sequencing; KW Disease mutation; Glycation; Glycoprotein; Heme; Hypotensive agent; KW Iron; Metal-binding; Oxygen transport; Phosphoprotein; Polymorphism; KW Pyruvate; S-nitrosylation; Transport; Vasoactive. FT INIT_MET 1 1 Removed. FT CHAIN 2 147 Hemoglobin subunit beta. FT /FTId=PRO_0000052976. FT PEPTIDE 33 42 LVV-hemorphin-7. FT /FTId=PRO_0000296641. FT METAL 64 64 Iron (heme distal ligand). FT METAL 93 93 Iron (heme proximal ligand). FT BINDING 2 2 2,3-bisphosphoglycerate; via amino FT nitrogen. FT BINDING 3 3 2,3-bisphosphoglycerate. FT BINDING 83 83 2,3-bisphosphoglycerate. FT BINDING 144 144 2,3-bisphosphoglycerate. FT SITE 60 60 Not glycated. FT SITE 83 83 Not glycated. FT SITE 96 96 Not glycated. FT SITE 142 142 Susceptible to oxidation; associated with FT variant Atlanta, variant non-spherocytic FT haemolytic anemia and variant FT Christchurch. FT SITE 145 145 Aspirin-acetylated lysine. FT MOD_RES 2 2 N-acetylalanine; in variant Raleigh. FT MOD_RES 2 2 N-pyruvate 2-iminyl-valine; in Hb A1b. FT MOD_RES 94 94 S-nitrosocysteine. FT MOD_RES 131 131 Phosphotyrosine. FT CARBOHYD 2 2 N-linked (Glc) (glycation); in Hb A1c. FT CARBOHYD 9 9 N-linked (Glc) (glycation). FT CARBOHYD 18 18 N-linked (Glc) (glycation). FT CARBOHYD 67 67 N-linked (Glc) (glycation). FT CARBOHYD 121 121 N-linked (Glc) (glycation). FT CARBOHYD 145 145 N-linked (Glc) (glycation). FT VARIANT 2 2 V -> A (in Raleigh; O(2) affinity down). FT /FTId=VAR_002856. FT VARIANT 3 3 H -> L (in Graz; dbSNP:rs35906307). FT /FTId=VAR_002857. FT VARIANT 3 3 H -> Q (in Okayama; O(2) affinity up; FT dbSNP:rs713040). FT /FTId=VAR_002858. FT VARIANT 3 3 H -> R (in Deer Lodge; O(2) affinity up). FT /FTId=VAR_002859. FT VARIANT 3 3 H -> Y (in Fukuoka). FT /FTId=VAR_002860. FT VARIANT 6 6 P -> R (in Warwickshire; FT dbSNP:rs34769005). FT /FTId=VAR_002861. FT VARIANT 7 7 E -> A (in G-Makassar). FT /FTId=VAR_002862. FT VARIANT 7 7 E -> K (in C). FT /FTId=VAR_002864. FT VARIANT 7 7 E -> Q (in Machida). FT /FTId=VAR_002865. FT VARIANT 7 7 E -> V (in S; sickle cell anemia; FT dbSNP:rs334). FT /FTId=VAR_002863. FT VARIANT 8 8 E -> G (in G-San Jose; mildly unstable; FT dbSNP:rs34948328). FT /FTId=VAR_002866. FT VARIANT 8 8 E -> K (in G-Siriraj). FT /FTId=VAR_002867. FT VARIANT 9 9 K -> E (in N-Timone; dbSNP:rs33932981). FT /FTId=VAR_002868. FT VARIANT 9 9 K -> Q (in J-Luhe). FT /FTId=VAR_002869. FT VARIANT 9 9 K -> T (in Rio Grande). FT /FTId=VAR_002870. FT VARIANT 10 10 S -> C (in Porto Alegre; O(2) affinity FT up). FT /FTId=VAR_002871. FT VARIANT 11 11 A -> D (in Ankara). FT /FTId=VAR_002872. FT VARIANT 11 11 A -> V (in Iraq-Halabja). FT /FTId=VAR_025393. FT VARIANT 12 12 V -> D (in Windsor; O(2) affinity up; FT unstable; dbSNP:rs33974228). FT /FTId=VAR_002873. FT VARIANT 12 12 V -> I (in Hamilton). FT /FTId=VAR_002874. FT VARIANT 14 14 A -> D (in J-Lens; dbSNP:rs35203747). FT /FTId=VAR_002875. FT VARIANT 15 15 L -> P (in Saki; unstable). FT /FTId=VAR_002876. FT VARIANT 15 15 L -> R (in Soegn; unstable). FT /FTId=VAR_002877. FT VARIANT 16 16 W -> G (in Randwick; unstable; FT dbSNP:rs33946157). FT /FTId=VAR_002878. FT VARIANT 16 16 W -> R (in Belfast; O(2) affinity up; FT unstable). FT /FTId=VAR_002879. FT VARIANT 17 17 G -> D (in J-Baltimore/J-Trinidad/J- FT Ireland/J-Georgia/N-New Haven). FT /FTId=VAR_002880. FT VARIANT 17 17 G -> R (in D-Bushman). FT /FTId=VAR_002881. FT VARIANT 18 18 K -> E (in Nagasaki; dbSNP:rs33986703). FT /FTId=VAR_002882. FT VARIANT 18 18 K -> N (in J-Amiens). FT /FTId=VAR_002883. FT VARIANT 18 18 K -> Q (in Nikosia). FT /FTId=VAR_002884. FT VARIANT 19 19 V -> M (in Baden; slightly unstable; FT dbSNP:rs35802118). FT /FTId=VAR_002885. FT VARIANT 20 20 N -> D (in Alamo). FT /FTId=VAR_002886. FT VARIANT 20 20 N -> K (in D-Ouleh RABAH). FT /FTId=VAR_002887. FT VARIANT 20 20 N -> S (in Malay). FT /FTId=VAR_002888. FT VARIANT 21 21 V -> M (in Olympia; O(2) affinity up). FT /FTId=VAR_002889. FT VARIANT 22 22 D -> G (in Connecticut; O(2) affinity FT down). FT /FTId=VAR_002890. FT VARIANT 22 22 D -> H (in Karlskoga). FT /FTId=VAR_002892. FT VARIANT 22 22 D -> N (in Cocody). FT /FTId=VAR_002891. FT VARIANT 22 22 D -> Y (in Yusa). FT /FTId=VAR_002893. FT VARIANT 23 23 E -> A (in G-Coushatta/G-Saskatoon/G- FT Taegu/Hsin Chu). FT /FTId=VAR_002894. FT VARIANT 23 23 E -> G (in G-Taipei). FT /FTId=VAR_002895. FT VARIANT 23 23 E -> K (in E-Saskatoon; unstable). FT /FTId=VAR_002896. FT VARIANT 23 23 E -> Q (in D-Iran). FT /FTId=VAR_002897. FT VARIANT 23 23 E -> V (in D-Granada). FT /FTId=VAR_002898. FT VARIANT 24 24 V -> D (in Strasbourg; O(2) affinity up). FT /FTId=VAR_002899. FT VARIANT 24 24 V -> F (in Palmerston North; O(2) FT affinity up; unstable). FT /FTId=VAR_002900. FT VARIANT 24 24 V -> G (in Miyashiro; O(2) affinity up; FT unstable). FT /FTId=VAR_002901. FT VARIANT 25 25 G -> D (in Moscva; O(2) affinity down; FT unstable). FT /FTId=VAR_002902. FT VARIANT 25 25 G -> R (in Riverdale-Bronx; O(2) affinity FT up; unstable). FT /FTId=VAR_002903. FT VARIANT 25 25 G -> V (in Savannah; unstable). FT /FTId=VAR_002904. FT VARIANT 26 26 G -> D (in J-Auckland; unstable; O(2) FT affinity down). FT /FTId=VAR_002905. FT VARIANT 26 26 G -> R (in G-Taiwan Ami). FT /FTId=VAR_002906. FT VARIANT 27 27 E -> K (in E). FT /FTId=VAR_002907. FT VARIANT 27 27 E -> V (in Henri Mondor; slightly FT unstable). FT /FTId=VAR_002908. FT VARIANT 28 28 A -> D (in Volga/Drenthe; unstable). FT /FTId=VAR_002909. FT VARIANT 28 28 A -> S (in Knossos). FT /FTId=VAR_002910. FT VARIANT 28 28 A -> V (in Grange-blanche; O(2) affinity FT up). FT /FTId=VAR_002911. FT VARIANT 29 29 L -> P (in Genova/Hyogo; unstable). FT /FTId=VAR_002912. FT VARIANT 29 29 L -> Q (in St Louis). FT /FTId=VAR_035236. FT VARIANT 30 30 G -> D (in Lufkin; unstable). FT /FTId=VAR_002913. FT VARIANT 31 31 R -> S (in Tacoma; unstable). FT /FTId=VAR_002914. FT VARIANT 32 32 L -> P (in Yokohama; unstable). FT /FTId=VAR_002915. FT VARIANT 33 33 L -> R (in Castilla; unstable). FT /FTId=VAR_002916. FT VARIANT 33 33 L -> V (in Muscat; slightly unstable). FT /FTId=VAR_002917. FT VARIANT 35 35 V -> D (in Santander; unstable). FT /FTId=VAR_025394. FT VARIANT 35 35 V -> F (in Pitie-Salpetriere; O(2) FT affinity up). FT /FTId=VAR_002918. FT VARIANT 35 35 V -> L (in Nantes; increased oxygen FT affinity). FT /FTId=VAR_025395. FT VARIANT 36 36 Y -> F (in Philly; O(2) affinity up; FT unstable). FT /FTId=VAR_002919. FT VARIANT 37 37 P -> R (in Sunnybrook). FT /FTId=VAR_002920. FT VARIANT 37 37 P -> S (in North Chicago; O(2) affinity FT up). FT /FTId=VAR_002921. FT VARIANT 37 37 P -> T (in Linkoping/Finlandia; O(2) FT affinity up). FT /FTId=VAR_002922. FT VARIANT 38 38 W -> G (in Howick). FT /FTId=VAR_002923. FT VARIANT 38 38 W -> R (in Rothschild; O(2) affinity FT down). FT /FTId=VAR_002925. FT VARIANT 38 38 W -> S (in Hirose; O(2) affinity up). FT /FTId=VAR_002924. FT VARIANT 39 39 T -> N (in Hinwil; O(2) affinity up). FT /FTId=VAR_002926. FT VARIANT 40 40 Q -> E (in Vaasa; unstable). FT /FTId=VAR_002927. FT VARIANT 40 40 Q -> K (in Alabama). FT /FTId=VAR_002928. FT VARIANT 40 40 Q -> R (in Tianshui). FT /FTId=VAR_002929. FT VARIANT 42 42 F -> Y (in Mequon). FT /FTId=VAR_002930. FT VARIANT 42 42 Missing (in Bruxelles). FT /FTId=VAR_035237. FT VARIANT 43 43 F -> L (in Louisville; unstable). FT /FTId=VAR_002931. FT VARIANT 43 43 F -> S (in Hammersmith). FT /FTId=VAR_035239. FT VARIANT 43 43 Missing (in Bruxelles). FT /FTId=VAR_035238. FT VARIANT 44 44 E -> Q (in Hoshida/Chaya). FT /FTId=VAR_002932. FT VARIANT 45 45 S -> C (in Mississippi). FT /FTId=VAR_002933. FT VARIANT 46 46 F -> S (in Cheverly; unstable). FT /FTId=VAR_002934. FT VARIANT 47 47 G -> E (in K-Ibadan). FT /FTId=VAR_002935. FT VARIANT 48 48 D -> A (in Avicenna). FT /FTId=VAR_002936. FT VARIANT 48 48 D -> G (in Gavello). FT /FTId=VAR_002937. FT VARIANT 48 48 D -> Y (in Maputo). FT /FTId=VAR_002938. FT VARIANT 49 49 L -> P (in Bab-Saadoum; slightly FT unstable). FT /FTId=VAR_002939. FT VARIANT 50 50 S -> F (in Las Palmas; slightly FT unstable). FT /FTId=VAR_002940. FT VARIANT 51 51 T -> K (in Edmonton). FT /FTId=VAR_002941. FT VARIANT 52 52 P -> R (in Willamette; O(2) affinity up; FT unstable). FT /FTId=VAR_002942. FT VARIANT 53 53 D -> A (in Ocho Rios). FT /FTId=VAR_002943. FT VARIANT 53 53 D -> H (in Summer Hill). FT /FTId=VAR_002944. FT VARIANT 55 55 V -> D (in Jacksonville; O(2) affinity FT up; unstable). FT /FTId=VAR_002945. FT VARIANT 56 56 M -> K (in Matera; unstable). FT /FTId=VAR_002946. FT VARIANT 57 57 G -> R (in Hamadan). FT /FTId=VAR_002947. FT VARIANT 58 58 N -> K (in G-ferrara; unstable). FT /FTId=VAR_002948. FT VARIANT 59 59 P -> R (in Dhofar/Yukuhashi). FT /FTId=VAR_002949. FT VARIANT 60 60 K -> E (in I-High Wycombe). FT /FTId=VAR_002950. FT VARIANT 61 61 V -> A (in Collingwood; unstable). FT /FTId=VAR_002951. FT VARIANT 62 62 K -> E (in N-Seatlle). FT /FTId=VAR_002952. FT VARIANT 62 62 K -> M (in Bologna; O(2) affinity down). FT /FTId=VAR_002953. FT VARIANT 62 62 K -> N (in Hikari). FT /FTId=VAR_002954. FT VARIANT 63 63 A -> D (in J-Europa). FT /FTId=VAR_002955. FT VARIANT 63 63 A -> P (in Duarte; unstable). FT /FTId=VAR_002956. FT VARIANT 64 64 H -> Y (in M-Saskatoon; O(2) affinity FT up). FT /FTId=VAR_002957. FT VARIANT 66 66 K -> M (in J-Antakya). FT /FTId=VAR_002958. FT VARIANT 66 66 K -> N (in J-Sicilia). FT /FTId=VAR_002959. FT VARIANT 66 66 K -> Q (in J-Cairo). FT /FTId=VAR_002960. FT VARIANT 67 67 K -> T (in Chico; O(2) affinity down). FT /FTId=VAR_002961. FT VARIANT 68 68 V -> A (in Sydney; unstable). FT /FTId=VAR_002962. FT VARIANT 68 68 V -> D (in Bristol). FT /FTId=VAR_035240. FT VARIANT 68 68 V -> G (in non-spherocytic haemolytic FT anemia; Manukau; dbSNP:rs33918343). FT /FTId=VAR_040060. FT VARIANT 68 68 V -> M (in Alesha; unstable). FT /FTId=VAR_002963. FT VARIANT 69 69 L -> H (in Brisbane; O(2) affinity up). FT /FTId=VAR_002964. FT VARIANT 69 69 L -> P (in Mizuho; unstable). FT /FTId=VAR_002965. FT VARIANT 70 70 G -> D (in Rambam). FT /FTId=VAR_002966. FT VARIANT 70 70 G -> R (in Kenitra). FT /FTId=VAR_002967. FT VARIANT 70 70 G -> S (in City of Hope). FT /FTId=VAR_002968. FT VARIANT 71 71 A -> D (in Seattle; O(2) affinity down; FT unstable). FT /FTId=VAR_002969. FT VARIANT 72 72 F -> S (in Christchurch; unstable). FT /FTId=VAR_002970. FT VARIANT 74 74 D -> G (in Tilburg; O(2) affinity down). FT /FTId=VAR_002971. FT VARIANT 74 74 D -> V (in Mobile; O(2) affinity down). FT /FTId=VAR_002972. FT VARIANT 74 74 D -> Y (in Vancouver; O(2) affinity FT down). FT /FTId=VAR_002973. FT VARIANT 75 75 G -> R (in Aalborg; unstable). FT /FTId=VAR_002974. FT VARIANT 75 75 G -> V (in Bushwick; unstable). FT /FTId=VAR_002975. FT VARIANT 76 76 L -> P (in Atlanta; unstable). FT /FTId=VAR_002976. FT VARIANT 76 76 L -> R (in Pasadena; O(2) affinity up; FT unstable). FT /FTId=VAR_002977. FT VARIANT 77 77 A -> D (in J-Chicago). FT /FTId=VAR_002978. FT VARIANT 78 78 H -> D (in J-Iran). FT /FTId=VAR_002979. FT VARIANT 78 78 H -> R (in Costa Rica). FT /FTId=VAR_002980. FT VARIANT 78 78 H -> Y (in Fukuyama). FT /FTId=VAR_002981. FT VARIANT 79 79 L -> R (in Quin-hai). FT /FTId=VAR_002982. FT VARIANT 80 80 D -> Y (in Tampa). FT /FTId=VAR_002983. FT VARIANT 81 81 N -> K (in G-Szuhu/Gifu). FT /FTId=VAR_002984. FT VARIANT 82 82 L -> H (in La Roche-sur-Yon; unstable and FT O(2) affinity up). FT /FTId=VAR_012663. FT VARIANT 82 82 L -> R (in Baylor; unstable). FT /FTId=VAR_002985. FT VARIANT 83 83 K -> M (in Helsinki; O(2) affinity up). FT /FTId=VAR_002986. FT VARIANT 83 83 K -> N (in Providence). FT /FTId=VAR_012664. FT VARIANT 84 84 G -> D (in Pyrgos). FT /FTId=VAR_025396. FT VARIANT 84 84 G -> R (in Muskegon). FT /FTId=VAR_002987. FT VARIANT 85 85 T -> I (in Kofu). FT /FTId=VAR_002988. FT VARIANT 87 87 A -> D (in Olomouc; O(2) affinity up). FT /FTId=VAR_002989. FT VARIANT 88 88 T -> I (in Quebec-Chori). FT /FTId=VAR_002990. FT VARIANT 88 88 T -> K (in D-Ibadan). FT /FTId=VAR_002991. FT VARIANT 88 88 T -> P (in Valletta). FT /FTId=VAR_002992. FT VARIANT 89 89 L -> P (in Santa Ana; unstable). FT /FTId=VAR_002993. FT VARIANT 89 89 L -> R (in Boras; unstable). FT /FTId=VAR_002994. FT VARIANT 90 90 S -> N (in Creteil; O(2) affinity up). FT /FTId=VAR_002995. FT VARIANT 90 90 S -> R (in Vanderbilt; O(2) affinity up). FT /FTId=VAR_002996. FT VARIANT 91 91 E -> D (in Pierre-Benite; O(2) affinity FT up). FT /FTId=VAR_002997. FT VARIANT 91 91 E -> K (in Agenogi; O(2) affinity down). FT /FTId=VAR_002998. FT VARIANT 92 92 L -> P (in Sabine; unstable). FT /FTId=VAR_002999. FT VARIANT 92 92 L -> R (in Caribbean; O(2) affinity down; FT unstable). FT /FTId=VAR_003000. FT VARIANT 93 93 H -> D (in J-Altgelds Gardens; unstable). FT /FTId=VAR_003001. FT VARIANT 93 93 H -> N (in Isehara; unstable). FT /FTId=VAR_003002. FT VARIANT 93 93 H -> P (in Newcastle and Duino; FT associated with S-104 in Duino; FT unstable). FT /FTId=VAR_003003. FT VARIANT 93 93 H -> Q (in Istambul; O(2) affinity up; FT unstable). FT /FTId=VAR_003004. FT VARIANT 94 94 C -> R (in Okazaki; O(2) affinity up; FT unstable). FT /FTId=VAR_003005. FT VARIANT 95 95 D -> G (in Chandigarh). FT /FTId=VAR_003006. FT VARIANT 95 95 D -> H (in Barcelona; O(2) affinity up). FT /FTId=VAR_003007. FT VARIANT 95 95 D -> N (in Bunbury; O(2) affinity up). FT /FTId=VAR_003008. FT VARIANT 96 96 K -> M (in J-Cordoba). FT /FTId=VAR_003009. FT VARIANT 96 96 K -> N (in Detroit). FT /FTId=VAR_003010. FT VARIANT 97 97 L -> P (in Debrousse; unstable; O(2) FT affinity up). FT /FTId=VAR_003011. FT VARIANT 97 97 L -> V (in Regina; O(2) affinity up). FT /FTId=VAR_003012. FT VARIANT 98 98 H -> L (in Wood; O(2) affinity up). FT /FTId=VAR_003013. FT VARIANT 98 98 H -> P (in Nagoya; O(2) affinity up; FT unstable). FT /FTId=VAR_003014. FT VARIANT 98 98 H -> Q (in Malmoe; O(2) affinity up). FT /FTId=VAR_003015. FT VARIANT 98 98 H -> Y (in Moriguchi). FT /FTId=VAR_003016. FT VARIANT 99 99 V -> G (in Nottingham; unstable). FT /FTId=VAR_003017. FT VARIANT 100 100 D -> E (in Coimbra; O(2) affinity up). FT /FTId=VAR_003018. FT VARIANT 101 101 P -> L (in Brigham; O(2) affinity up). FT /FTId=VAR_003019. FT VARIANT 101 101 P -> R (in New Mexico). FT /FTId=VAR_003020. FT VARIANT 102 102 E -> D (in Potomac; O(2) affinity up). FT /FTId=VAR_003021. FT VARIANT 102 102 E -> G (in Alberta; O(2) affinity up). FT /FTId=VAR_003022. FT VARIANT 102 102 E -> K (in British Columbia; O(2) FT affinity up). FT /FTId=VAR_003023. FT VARIANT 102 102 E -> Q (in Rush; unstable). FT /FTId=VAR_003024. FT VARIANT 103 103 N -> S (in Beth Israel; O(2) affinity FT down; unstable). FT /FTId=VAR_003025. FT VARIANT 103 103 N -> Y (in St Mande; O(2) affinity down). FT /FTId=VAR_003026. FT VARIANT 104 104 F -> L (in Heathrow; O(2) affinity up). FT /FTId=VAR_003027. FT VARIANT 105 105 R -> S (in Camperdown and Duino; FT associated with P-92 in Duino; unstable). FT /FTId=VAR_003028. FT VARIANT 105 105 R -> T (in Sherwood Forest). FT /FTId=VAR_003029. FT VARIANT 108 108 G -> R (in Burke; O(2) affinity down; FT unstable). FT /FTId=VAR_003030. FT VARIANT 109 109 N -> K (in Presbyterian; O(2) affinity FT down; unstable). FT /FTId=VAR_003031. FT VARIANT 110 110 V -> M (in San Diego; O(2) affinity up). FT /FTId=VAR_003032. FT VARIANT 111 111 L -> P (in Showa-Yakushiji). FT /FTId=VAR_003033. FT VARIANT 112 112 V -> A (in Stanmore; O(2) affinity down; FT unstable). FT /FTId=VAR_003034. FT VARIANT 113 113 C -> F (in Canterbury). FT /FTId=VAR_025397. FT VARIANT 113 113 C -> R (in Indianapolis). FT /FTId=VAR_003035. FT VARIANT 113 113 C -> Y (in Yahata). FT /FTId=VAR_003036. FT VARIANT 115 115 L -> M (in Zengcheng). FT /FTId=VAR_010144. FT VARIANT 115 115 L -> P (in Durham-N.C./Brescia; causes FT beta-thalassemia). FT /FTId=VAR_010145. FT VARIANT 116 116 A -> D (in Hradec Kralove; unstable; FT causes severe beta-thalassemia). FT /FTId=VAR_003037. FT VARIANT 116 116 A -> P (in Madrid; unstable). FT /FTId=VAR_003038. FT VARIANT 117 117 H -> L (in Vexin; increased oxygen FT affinity). FT /FTId=VAR_025398. FT VARIANT 117 117 H -> Q (in Hafnia). FT /FTId=VAR_003039. FT VARIANT 118 118 H -> P (in Saitama; unstable). FT /FTId=VAR_003040. FT VARIANT 118 118 H -> R (in P-Galveston). FT /FTId=VAR_003041. FT VARIANT 118 118 H -> Y (in Tsukumi). FT /FTId=VAR_025399. FT VARIANT 120 120 G -> A (in Iowa). FT /FTId=VAR_003042. FT VARIANT 121 121 K -> E (in Hijiyama). FT /FTId=VAR_003043. FT VARIANT 121 121 K -> I (in Jianghua). FT /FTId=VAR_003044. FT VARIANT 121 121 K -> Q (in Takamatsu). FT /FTId=VAR_003045. FT VARIANT 122 122 E -> A (in D-Neath). FT /FTId=VAR_003046. FT VARIANT 122 122 E -> G (in St Francis). FT /FTId=VAR_003047. FT VARIANT 122 122 E -> K (in O-Arab). FT /FTId=VAR_003049. FT VARIANT 122 122 E -> Q (in D-Los Angeles/D-Punjab/D- FT Portugal/D-Chicago/D-Oak Ridge). FT /FTId=VAR_003048. FT VARIANT 122 122 E -> V (in D-Camperdown/Beograd). FT /FTId=VAR_003050. FT VARIANT 124 124 T -> I (in Villejuif; asymptomatic FT variant). FT /FTId=VAR_003051. FT VARIANT 125 125 P -> Q (in Ty Gard; O(2) affinity up). FT /FTId=VAR_003053. FT VARIANT 125 125 P -> R (in Khartoum; unstable). FT /FTId=VAR_003052. FT VARIANT 125 125 P -> S (in Tunis). FT /FTId=VAR_003054. FT VARIANT 127 127 V -> A (in Beirut). FT /FTId=VAR_003055. FT VARIANT 127 127 V -> E (in Hofu; unstable). FT /FTId=VAR_003057. FT VARIANT 127 127 V -> G (in Dhonburi/Neapolis; unstable; FT beta-thalassemia). FT /FTId=VAR_003056. FT VARIANT 128 128 Q -> E (in Complutense). FT /FTId=VAR_003058. FT VARIANT 128 128 Q -> K (in Brest; unstable). FT /FTId=VAR_003059. FT VARIANT 129 129 A -> D (in J-Guantanamo; unstable). FT /FTId=VAR_003060. FT VARIANT 130 130 A -> P (in Crete; O(2) affinity up; FT unstable). FT /FTId=VAR_003061. FT VARIANT 130 130 A -> V (in La Desirade; O(2) affinity FT down; unstable). FT /FTId=VAR_003062. FT VARIANT 131 131 Y -> D (in Wien; unstable). FT /FTId=VAR_003063. FT VARIANT 131 131 Y -> S (in Nevers). FT /FTId=VAR_003064. FT VARIANT 132 132 Q -> E (in Camden/Tokuchi/Motown). FT /FTId=VAR_003065. FT VARIANT 132 132 Q -> K (in Shelby/Leslie/Deaconess; FT unstable). FT /FTId=VAR_003066. FT VARIANT 132 132 Q -> P (in Shangai; unstable). FT /FTId=VAR_003067. FT VARIANT 132 132 Q -> R (in Sarrebourg; unstable). FT /FTId=VAR_003068. FT VARIANT 133 133 K -> N (in Yamagata; O(2) affinity down). FT /FTId=VAR_003069. FT VARIANT 133 133 K -> Q (in K-Woolwich). FT /FTId=VAR_003070. FT VARIANT 134 134 V -> L (in Extredemura). FT /FTId=VAR_003071. FT VARIANT 135 135 V -> E (in North Shore-Caracas; FT unstable). FT /FTId=VAR_003072. FT VARIANT 136 136 A -> E (in Beckman; O(2) affinity down; FT unstable). FT /FTId=VAR_003073. FT VARIANT 136 136 A -> P (in Altdorf; O(2) affinity up; FT unstable). FT /FTId=VAR_003074. FT VARIANT 137 137 G -> D (in Hope; O(2) affinity down; FT unstable). FT /FTId=VAR_003075. FT VARIANT 139 139 A -> P (in Brockton; unstable). FT /FTId=VAR_003076. FT VARIANT 140 140 N -> D (in Geelong; unstable). FT /FTId=VAR_003077. FT VARIANT 140 140 N -> K (in Hinsdale; O(2) affinity down). FT /FTId=VAR_003078. FT VARIANT 140 140 N -> S (in S-Wake; associated with V-6). FT /FTId=VAR_025335. FT VARIANT 140 140 N -> Y (in Aurora; O(2) affinity up). FT /FTId=VAR_003079. FT VARIANT 141 141 A -> D (in Himeji; unstable; O(2) FT affinity down). FT /FTId=VAR_003080. FT VARIANT 141 141 A -> T (in St Jacques: O(2) affinity up). FT /FTId=VAR_003081. FT VARIANT 141 141 A -> V (in Puttelange; polycythemia; O(2) FT affinity up). FT /FTId=VAR_003082. FT VARIANT 142 142 L -> R (in Olmsted; unstable). FT /FTId=VAR_003083. FT VARIANT 143 143 A -> D (in Ohio; O(2) affinity up). FT /FTId=VAR_003084. FT VARIANT 144 144 H -> D (in Rancho Mirage). FT /FTId=VAR_003085. FT VARIANT 144 144 H -> P (in Syracuse; O(2) affinity up). FT /FTId=VAR_003087. FT VARIANT 144 144 H -> Q (in Little Rock; O(2) affinity FT up). FT /FTId=VAR_003086. FT VARIANT 144 144 H -> R (in Abruzzo; O(2) affinity up). FT /FTId=VAR_003088. FT VARIANT 145 145 K -> E (in Mito; O(2) affinity up). FT /FTId=VAR_003089. FT VARIANT 146 146 Y -> C (in Rainier; O(2) affinity up). FT /FTId=VAR_003090. FT VARIANT 146 146 Y -> H (in Bethesda; O(2) affinity up). FT /FTId=VAR_003091. FT VARIANT 147 147 H -> D (in Hiroshima; O(2) affinity up). FT /FTId=VAR_003092. FT VARIANT 147 147 H -> L (in Cowtown; O(2) affinity up). FT /FTId=VAR_003093. FT VARIANT 147 147 H -> P (in York; O(2) affinity up). FT /FTId=VAR_003094. FT VARIANT 147 147 H -> Q (in Kodaira; O(2) affinity up). FT /FTId=VAR_003095. FT HELIX 6 16 FT TURN 21 23 FT HELIX 24 35 FT HELIX 37 42 FT HELIX 44 46 FT HELIX 52 57 FT HELIX 59 77 FT TURN 78 80 FT HELIX 82 94 FT TURN 95 97 FT HELIX 102 119 FT HELIX 120 122 FT HELIX 125 142 FT HELIX 144 146 SQ SEQUENCE 147 AA; 15998 MW; A31F6D621C6556A1 CRC64; MVHLTPEEKS AVTALWGKVN VDEVGGEALG RLLVVYPWTQ RFFESFGDLS TPDAVMGNPK VKAHGKKVLG AFSDGLAHLD NLKGTFATLS ELHCDKLHVD PENFRLLGNV LVCVLAHHFG KEFTPPVQAA YQKVVAGVAN ALAHKYH // ID HBD_HUMAN Reviewed; 147 AA. AC P02042; Q3Y5H3; Q8WXT7; DT 21-JUL-1986, integrated into UniProtKB/Swiss-Prot. DT 23-JAN-2007, sequence version 2. DT 04-NOV-2008, entry version 93. DE RecName: Full=Hemoglobin subunit delta; DE AltName: Full=Hemoglobin delta chain; DE AltName: Full=Delta-globin; GN Name=HBD; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX MEDLINE=81064666; PubMed=7438204; DOI=10.1016/0092-8674(80)90427-4; RA Spritz R.A., Deriel J.K., Forget B.G., Weissman S.M.; RT "Complete nucleotide sequence of the human delta-globin gene."; RL Cell 21:639-646(1980). RN [2] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT SER-5. RA Webster M.T., Harding R.M., Wells R.S., Clegg J.B.; RT "Heterogeneous patterns of sequence variation in the human beta-globin RT gene cluster."; RL Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases. RN [3] RP NUCLEOTIDE SEQUENCE [MRNA]. RA Lee T., Gubin A., Miller J.L.; RT "Alternate delta globin transcript."; RL Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT TROODOS CYS-117. RC TISSUE=Blood; RX PubMed=16370491; DOI=10.1080/03630260500310828; RA Eram S.M., Azimifar S.B., Abolghassemi H., Foulady P., Lotfi V., RA Masroury M., Hosseini M., Abdolhosseini A.; RT "The IVS-II-1(G>A) betao-thalassemia mutation in cis with HbA2-Troodos RT [Delta 116 (G18) Arg>Cys (CGC>TGC)] causes a complex prenatal RT diagnosis in an Iranian family."; RL Hemoglobin 29:289-292(2005). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Blood; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [6] RP PROTEIN SEQUENCE OF 2-147. RX MEDLINE=78240319; PubMed=680638; RA Braunitzer G., Schrank B., Stangl A., Grillemeier M.; RT "Hemoglobins, XXIII. Note on the sequence of the delta-chains of human RT hemoglobin."; RL Hoppe-Seyler's Z. Physiol. Chem. 359:777-783(1978). RN [7] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-146, AND MASS RP SPECTROMETRY. RX PubMed=18083107; DOI=10.1016/j.cell.2007.11.025; RA Rikova K., Guo A., Zeng Q., Possemato A., Yu J., Haack H., Nardone J., RA Lee K., Reeves C., Li Y., Hu Y., Tan Z., Stokes M., Sullivan L., RA Mitchell J., Wetzel R., Macneill J., Ren J.M., Yuan J., RA Bakalarski C.E., Villen J., Kornhauser J.M., Smith B., Li D., Zhou X., RA Gygi S.P., Gu T.-L., Polakiewicz R.D., Rush J., Comb M.J.; RT "Global survey of phosphotyrosine signaling identifies oncogenic RT kinases in lung cancer."; RL Cell 131:1190-1203(2007). RN [8] RP VARIANT DELTA' ARG-17. RX MEDLINE=67081714; PubMed=5956309; RA Ball E.W., Meynell M.J., Beale D., Kynoch P., Lehmann H., RA Strelton A.O.W.; RT "Haemoglobin A2: alpha-2-delta-2-16 glycine-->arginine."; RL Nature 209:1217-1218(1966). RN [9] RP VARIANT BABINGA ASP-137. RX MEDLINE=68413403; PubMed=5678016; RA de Jong W.W.W., Bernini L.F.; RT "Haemoglobin Babinga (delta 136 glycine-aspartic acid): a new delta RT chain variant."; RL Nature 219:1360-1362(1968). RN [10] RP VARIANT NYU LYS-13. RX MEDLINE=70003941; PubMed=5824070; RA Ranney H.M., Jacobs A.S., Ramot B., Bradley T.B. Jr.; RT "Hemoglobin NYU, a delta chain variant, alpha 2 delta 2 Lys."; RL J. Clin. Invest. 48:2057-2062(1969). RN [11] RP VARIANT INDONESIA ARG-70. RX MEDLINE=71165213; PubMed=4995018; RA Lie-Injo L.E., Pribadi W., Westendorp-Boerma F., Efremov G.D., RA Wilson J.B., Reynolds C.A., Huisman T.H.J.; RT "Hemoglobin A2-Indonesia or alpha 2 delta 2 69(E13) Gly-->Arg."; RL Biochim. Biophys. Acta 229:335-342(1971). RN [12] RP VARIANT MELBOURNE LYS-44. RX MEDLINE=74297494; PubMed=4850239; RA Sharma R.S., Harding D.L., Wong S.D., Wilson J.B., Gravely M.E., RA Huisman T.H.J.; RT "A new delta chain variant, haemoglobin-A2-Melbourne or alpha2 delta2 RT 43Glu-Lys(CD2)."; RL Biochim. Biophys. Acta 359:233-235(1974). RN [13] RP VARIANT COBURG HIS-117. RX MEDLINE=75205684; PubMed=1148221; RA Sharma R.S., Williams L., Wilson J.B., Huisman T.H.J.; RT "Hemoglobin-A2-Coburg or alpha2delta2116Arg leads to His (G18)."; RL Biochim. Biophys. Acta 393:379-382(1975). RN [14] RP VARIANT ROOSEVELT GLU-21. RX MEDLINE=76253804; PubMed=952968; DOI=10.1016/0005-2795(76)90089-1; RA Rieder R.F., Clegg J.B., Weiss H.J., Christy N.P., Rabinowitz R.; RT "Hemoglobin A2-Roosevelt: alpha 2 delta 2 20Val replaced by Glu."; RL Biochim. Biophys. Acta 439:501-504(1976). RN [15] RP VARIANT CANADA ASN-100. RX MEDLINE=83030336; PubMed=7129931; RA Salkie M.L., Gordon P.A., Rigal W.M., Lam H., Wilson J.B., RA Headlee M.E., Huisman T.H.J.; RT "Hb A2-Canada or alpha 2 delta 2 99(G1) Asp replaced by Asn, a newly RT discovered delta chain variant with increased oxygen affinity RT occurring in cis to beta-thalassemia."; RL Hemoglobin 6:223-231(1982). RN [16] RP VARIANT MANZANARES VAL-122. RX MEDLINE=84031651; PubMed=6629825; RA Romero Garcia C., Navarro J.L., Lam H., Webber B.B., Headlee M.G., RA Wilson J.B., Huisman T.H.J.; RT "Hb A2-Manzanares or alpha 2 delta 2 121 (GH4) Glu replaced by Val, an RT unstable delta chain variant observed in a Spanish family."; RL Hemoglobin 7:435-442(1983). RN [17] RP VARIANT ZAGREB GLU-126. RX MEDLINE=84031652; PubMed=6629826; RA Juricic D., Crepinko I., Efremov G.D., Lam H., Webber B.B., RA Headlee M.G., Huisman T.H.J.; RT "Hb A2-Zagreb or alpha 2 delta 2(125)(H3)Gln replaced by Glu, a new RT delta chain variant in association with delta beta-thalassemia."; RL Hemoglobin 7:443-448(1983). RN [18] RP VARIANT VICTORIA ASP-25. RX MEDLINE=84288757; PubMed=6469695; RA Brennan S.O., Williamson D., Smith M.B., Cauchi M.N., Macphee A., RA Carrell R.W.; RT "HbA2 Victoria delta 24 (B6) Gly-->Asp. A new delta chain variant RT occurring with beta-thalassemia."; RL Hemoglobin 8:163-168(1984). RN [19] RP VARIANT FITZROY ASP-143. RX MEDLINE=85006310; PubMed=6548205; RA Williamson D., Brennan S.O., Strosberg H., Whitty J., Carrell R.W.; RT "Hemoglobin A2 Fitzroy delta 142 Ala-->Asp: a new delta-chain RT variant."; RL Hemoglobin 8:325-332(1984). RN [20] RP VARIANT HONAI VAL-91. RX MEDLINE=86139291; PubMed=2869009; RA Fujita S., Ohta Y., Saito S., Kobayashi Y., Naritomi Y., Kawaguchi T., RA Imamura T., Wada Y., Hayashi A.; RT "Hemoglobin A2 Honai (alpha 2 delta 2(90)(F6)Glu-->Val): a new delta RT chain variant."; RL Hemoglobin 9:597-607(1985). RN [21] RP VARIANT YOKOSHIMA ASP-26. RX MEDLINE=86139293; PubMed=3841531; RA Ohba Y., Igarashi M., Tsukahara M., Nakashima M., Sanada C., Ami M., RA Arai Y., Miyaji T.; RT "Hb A2 Yokoshima, alpha(2)delta(2)25(B7)Gly-->Asp, a new delta chain RT variant found in a Japanese family."; RL Hemoglobin 9:613-615(1985). RN [22] RP VARIANT WRENS MET-99. RX MEDLINE=90001251; PubMed=2477064; DOI=10.1016/0167-4781(89)90083-3; RA Codrington J.F., Kutlar F., Harris H.F., Wilson J.B., Stoming T.A., RA Huisman T.H.J.; RT "Hb A2-Wrens or alpha 2 delta 2 98(FG5) Val-->Met, an unstable delta RT chain variant identified by sequence analysis of amplified DNA."; RL Biochim. Biophys. Acta 1009:87-89(1989). RN [23] RP VARIANTS YIALOUSA SER-28; CORFU CYS-117 AND PELENDRI PRO-142. RX MEDLINE=92075981; PubMed=1742490; RA Trifillis P., Ioannou P., Schwartz E., Surrey S.; RT "Identification of four novel delta-globin gene mutations in Greek RT Cypriots using polymerase chain reaction and automated fluorescence- RT based DNA sequence analysis."; RL Blood 78:3298-3305(1991). RN [24] RP VARIANT NIIGATA ALA-2. RX MEDLINE=92155983; PubMed=1787103; RA Harano T., Harano K., Kushida Y., Ueda S., Kawakami H.; RT "Hb A2-Niigata [delta 1(NA1)Val-->Ala]: a new delta chain variant RT found in the Japanese population."; RL Hemoglobin 15:335-339(1991). RN [25] RP VARIANT PARKVILLE VAL-48. RX MEDLINE=92202058; PubMed=1802883; RA Leung H., Gilbert A.T., Fleming P.J., Wong J., Hughes W.G., RA Hussein S., Nash A.R.; RT "Hb A2-Parkville or delta 47(CD6)Asp-->Val, a new delta chain RT variant."; RL Hemoglobin 15:407-416(1991). RN [26] RP VARIANT CORFU CYS-117. RX MEDLINE=91293802; PubMed=2066116; DOI=10.1007/BF00204193; RA Loudianos G., Murru S., Kanavakis E., Metaxotou-Mavromati A., RA Theodoropoulou D., Kattamis C., Cao A., Pirastu M.; RT "A new delta chain variant hemoglobin A2-Corfu or alpha 2 delta 2 116 RT Arg-->Cys (G18), detected by delta-globin gene analysis in a Greek RT family."; RL Hum. Genet. 87:237-238(1991). RN [27] RP VARIANTS ILE-5 AND YIALOUSA SER-28. RX MEDLINE=93372365; PubMed=8364213; RA Trifillis P., Kyrri A., Kalogirou E., Kokkofitou A., Ioannou P., RA Schwartz E., Surrey S.; RT "Analysis of delta-globin gene mutations in Greek cypriots."; RL Blood 82:1647-1651(1993). RN [28] RP VARIANT GROVETOWN VAL-76. RX MEDLINE=93322203; PubMed=8330984; RA Molchanova T.P., Postnikov Y.V., Gu L.-H., Huisman T.H.J.; RT "Hb A2-Grovetown or alpha 2 delta (2)75(E19)Leu-->Val."; RL Hemoglobin 17:289-291(1993). RN [29] RP VARIANT PUGLIA ASP-27. RX MEDLINE=94004919; PubMed=8401543; RA Loudianos G., Porcu S., Cossu P., Tannoia N., Vitucci A., RA Campanale D., Cao A., Pirastu M.; RT "A new delta-chain variant hemoglobin A2-Puglia or alpha 2 delta 2 26 RT Glu-->Asp (B8), detected by DNA analysis in a family of southern RT Italian origin."; RL Hum. Mutat. 2:327-329(1993). RN [30] RP VARIANT SANT' ANTIOCO GLY-94. RX MEDLINE=95229431; PubMed=7713748; RA Galanello R., Gasperini D., Perseu L., Barella S., Ideo A., Cao A.; RT "Hb A2-Sant' Antioco alpha 2 delta (2)93(F9)Cys-->Gly: a new delta RT chain variant identified by sequencing of amplified DNA."; RL Hemoglobin 18:437-439(1994). RN [31] RP VARIANT AGRINIO GLY-44. RX MEDLINE=96084034; PubMed=8537235; RA Papadakis M., Drakoulakou O., Papapanagiotou E., Pessini D., RA Loutradi-Anagnostou A.; RT "Hb A2-Agrinio [delta 43(CD2)Glu-->Gly(GAG-->GGG)]: a new delta chain RT variant detected in a Greek family."; RL Hemoglobin 19:295-299(1995). RN [32] RP VARIANTS PYLOS GLY-12 AND ETOLIA SER-86. RX PubMed=9101295; RX DOI=10.1002/(SICI)1098-1004(1997)9:4<344::AID-HUMU7>3.0.CO;2-5; RA Drakoulakou O., Papapanagiotou E., Loutradi-Anagnostou A., RA Papadakis M.; RT "Delta-thalassemic phenotype due to two 'novel' delta-globin gene RT mutations: CD11[GTC-->GGC (A8)-HbA2-Pylos] and CD 85[TTT-->TCT(F1)- RT HbA2-Etolia]."; RL Hum. Mutat. 9:344-347(1997). RN [33] RP VARIANT MONREALE ARG-147. RX MEDLINE=21936567; PubMed=11939506; DOI=10.1081/HEM-120002934; RA De Angioletti M., Di Girgenti C., Messineo R., Capra M., Carestia C.; RT "Hb A2-Monreale delta146(HC3)His-->Arg, a novel delta chain variant RT detected in west Sicily."; RL Hemoglobin 26:1-5(2002). RN [34] RP VARIANTS METAPONTO HIS-37; CAMPANIA LYS-58; LUCANIA VAL-89 AND CAPRI RP SER-105. RX PubMed=12402333; DOI=10.1002/humu.10132; RA De Angioletti M., Lacerra G., Gaudiano C., Mastrolonardo G., RA Pagano L., Mastrullo L., Masciandaro S., Carestia C.; RT "Epidemiology of the delta globin alleles in southern Italy shows RT complex molecular, genetic, and phenotypic features."; RL Hum. Mutat. 20:358-367(2002). RN [35] RP VARIANT NINIVE ALA-134. RX PubMed=15921167; DOI=10.1081/HEM-200058593; RA Frischknecht H., Dutly F.; RT "Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] RT and a delta(+)-thalassemia mutation [-31 (A-->G)] in the TATA box of RT the delta-globin gene."; RL Hemoglobin 29:151-154(2005). RN [36] RP VARIANT MUMC/CORLEONE ASP-11. RX PubMed=16370490; DOI=10.1080/03630260500310794; RA Walker L., Patterson M., Eng B., McFarlane A., Waye J.S.; RT "Identification of a new delta chain hemoglobin variant in a beta- RT thalassemia carrier: Hb A2-mumc [delta13(a10)Ala-->Asp]."; RL Hemoglobin 29:285-287(2005). RN [37] RP VARIANTS CATANIA LEU-3; MUMC/CORLEONE ASP-11; VENTIMIGLIA GLY-71; RP MONTECHIARO LYS-88 AND BAGHERIA VAL-141. RX PubMed=17145605; RA Giambona A., Passarello C., Ruggeri G., Renda D., Teresi P., Anza M., RA Maggio A.; RT "Analysis of delta-globin gene alleles in the Sicilian population: RT identification of five new mutations."; RL Haematologica 91:1681-1684(2006). CC -!- FUNCTION: Involved in oxygen transport from the lung to the CC various peripheral tissues. CC -!- SUBUNIT: Heterotetramer of two alpha chains and two delta chains CC in adult hemoglobin A2 (HbA2). HbA2 represents less than 3.5% of CC adult hemoglobin. CC -!- TISSUE SPECIFICITY: Red blood cells. CC -!- DISEASE: Elevated HbA2 level are characteristic of beta- CC thalassemia trait. CC -!- SIMILARITY: Belongs to the globin family. CC -!- WEB RESOURCE: Name=HbVar; Note=Human hemoglobin variants and CC thalassemias; CC URL="http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBD"; CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; U01317; AAA16333.1; -; Genomic_DNA. DR EMBL; V00505; CAA23763.1; -; Genomic_DNA. DR EMBL; AF339401; AAL72102.1; -; Genomic_DNA. DR EMBL; AF339402; AAL72103.1; -; Genomic_DNA. DR EMBL; AF339403; AAL72104.1; -; Genomic_DNA. DR EMBL; AF339404; AAL72105.1; -; Genomic_DNA. DR EMBL; AF339405; AAL72106.1; -; Genomic_DNA. DR EMBL; AF339406; AAL72107.1; -; Genomic_DNA. DR EMBL; AF339407; AAL72108.1; -; Genomic_DNA. DR EMBL; AF339408; AAL72109.1; -; Genomic_DNA. DR EMBL; AF339409; AAL72110.1; -; Genomic_DNA. DR EMBL; AF339410; AAL72111.1; -; Genomic_DNA. DR EMBL; AF339411; AAL72112.1; -; Genomic_DNA. DR EMBL; AF339412; AAL72113.1; -; Genomic_DNA. DR EMBL; AF339413; AAL72114.1; -; Genomic_DNA. DR EMBL; AF339414; AAL72115.1; -; Genomic_DNA. DR EMBL; AF339415; AAL72116.1; -; Genomic_DNA. DR EMBL; AF339416; AAL72117.1; -; Genomic_DNA. DR EMBL; AF339417; AAL72118.1; -; Genomic_DNA. DR EMBL; AY034468; AAK68847.1; -; mRNA. DR EMBL; DQ157442; AAZ83699.1; -; Genomic_DNA. DR EMBL; BC069307; AAH69307.1; -; mRNA. DR EMBL; BC070282; AAH70282.1; -; mRNA. DR PIR; A90804; HDHU. DR RefSeq; NP_000510.1; -. DR UniGene; Hs.699280; -. DR PDB; 1SHR; X-ray; 1.88 A; B/D=1-147. DR PDB; 1SI4; X-ray; 2.20 A; B/D=1-147. DR PDBsum; 1SHR; -. DR PDBsum; 1SI4; -. DR PhosphoSite; P02042; -. DR REPRODUCTION-2DPAGE; IPI00473011; -. DR PeptideAtlas; P02042; -. DR Ensembl; ENSG00000188170; Homo sapiens. DR GeneID; 3045; -. DR KEGG; hsa:3045; -. DR H-InvDB; HIX0009387; -. DR HGNC; HGNC:4829; HBD. DR MIM; 142000; gene. DR PharmGKB; PA29204; -. DR HOVERGEN; P02042; -. DR LinkHub; P02042; -. DR NextBio; 12055; -. DR ArrayExpress; P02042; -. DR CleanEx; HS_HBD; -. DR GermOnline; ENSG00000188170; Homo sapiens. DR GO; GO:0005833; C:hemoglobin complex; TAS:ProtInc. DR InterPro; IPR012292; Globin. DR InterPro; IPR000971; Globin_subset. DR InterPro; IPR002337; Haemoglobin_b. DR Gene3D; G3DSA:1.10.490.10; Globin_related; 1. DR PANTHER; PTHR11442:SF7; Beta_haem; 1. DR Pfam; PF00042; Globin; 1. DR PRINTS; PR00814; BETAHAEM. DR PROSITE; PS01033; GLOBIN; 1. PE 1: Evidence at protein level; KW 3D-structure; Acetylation; Direct protein sequencing; Heme; Iron; KW Metal-binding; Oxygen transport; Phosphoprotein; Polymorphism; KW Transport. FT INIT_MET 1 1 Removed. FT CHAIN 2 147 Hemoglobin subunit delta. FT /FTId=PRO_0000053167. FT METAL 64 64 Iron (heme distal ligand). FT METAL 93 93 Iron (heme proximal ligand). FT MOD_RES 2 2 N-acetylalanine; in variant Niigata. FT MOD_RES 146 146 Phosphotyrosine. FT VARIANT 2 2 V -> A (in Niigata). FT /FTId=VAR_003096. FT VARIANT 3 3 H -> L (in Catania). FT /FTId=VAR_030499. FT VARIANT 3 3 H -> R (in Sphakia). FT /FTId=VAR_003097. FT VARIANT 5 5 T -> I. FT /FTId=VAR_018740. FT VARIANT 5 5 T -> S (in haplotype T11; Kenya). FT /FTId=VAR_018741. FT VARIANT 11 11 A -> D (in MUMC/Corleone). FT /FTId=VAR_030500. FT VARIANT 12 12 V -> G (in Pylos). FT /FTId=VAR_030501. FT VARIANT 13 13 N -> K (in NYU). FT /FTId=VAR_003098. FT VARIANT 17 17 G -> R (in Delta'). FT /FTId=VAR_003099. FT VARIANT 21 21 V -> E (in Roosevelt). FT /FTId=VAR_003100. FT VARIANT 23 23 A -> E (in Flatbush). FT /FTId=VAR_003101. FT VARIANT 25 25 G -> D (in Victoria). FT /FTId=VAR_003102. FT VARIANT 26 26 G -> D (in Yokoshima). FT /FTId=VAR_003103. FT VARIANT 27 27 E -> D (in Puglia). FT /FTId=VAR_003104. FT VARIANT 28 28 A -> S (in Yialousa). FT /FTId=VAR_003105. FT VARIANT 37 37 P -> H (in Metaponto). FT /FTId=VAR_030502. FT VARIANT 44 44 E -> G (in Agrinio). FT /FTId=VAR_003106. FT VARIANT 44 44 E -> K (in Melbourne). FT /FTId=VAR_003107. FT VARIANT 48 48 D -> V (in Parkville). FT /FTId=VAR_003108. FT VARIANT 52 52 P -> R (in Adria). FT /FTId=VAR_003109. FT VARIANT 58 58 N -> K (in Campania). FT /FTId=VAR_030503. FT VARIANT 70 70 G -> R (in Indonesia). FT /FTId=VAR_003110. FT VARIANT 71 71 A -> G (in Ventimiglia). FT /FTId=VAR_030504. FT VARIANT 76 76 L -> V (in Grovetown). FT /FTId=VAR_003111. FT VARIANT 86 86 F -> S (in Etolia). FT /FTId=VAR_030505. FT VARIANT 88 88 Q -> K (in Montechiaro). FT /FTId=VAR_030506. FT VARIANT 89 89 L -> V (in Lucania). FT /FTId=VAR_030507. FT VARIANT 91 91 E -> V (in Honai). FT /FTId=VAR_003112. FT VARIANT 94 94 C -> G (in Sant' Antioco). FT /FTId=VAR_014277. FT VARIANT 99 99 V -> M (in Wrens; unstable). FT /FTId=VAR_003113. FT VARIANT 100 100 D -> N (in Canada; O(2) affinity up). FT /FTId=VAR_003114. FT VARIANT 105 105 R -> S (in Capri). FT /FTId=VAR_030508. FT VARIANT 117 117 R -> C (in Corfu/Troodos). FT /FTId=VAR_003115. FT VARIANT 117 117 R -> H (in Coburg). FT /FTId=VAR_003116. FT VARIANT 118 118 N -> D (in LiangCheng). FT /FTId=VAR_003117. FT VARIANT 122 122 E -> V (in Manzanares; unstable). FT /FTId=VAR_003118. FT VARIANT 126 126 Q -> E (in Zagreb). FT /FTId=VAR_003119. FT VARIANT 134 134 V -> A (in Ninive). FT /FTId=VAR_030509. FT VARIANT 137 137 G -> D (in Babinga). FT /FTId=VAR_003120. FT VARIANT 141 141 A -> V (in Bagheria). FT /FTId=VAR_030510. FT VARIANT 142 142 L -> P (in Pelendri). FT /FTId=VAR_003121. FT VARIANT 143 143 A -> D (in Fitzroy). FT /FTId=VAR_003122. FT VARIANT 147 147 H -> R (in Monreale). FT /FTId=VAR_014278. FT HELIX 6 16 FT TURN 21 23 FT HELIX 24 35 FT HELIX 37 46 FT HELIX 52 56 FT HELIX 59 77 FT TURN 78 80 FT HELIX 82 85 FT HELIX 87 94 FT HELIX 102 119 FT HELIX 120 122 FT HELIX 125 142 FT HELIX 144 146 SQ SEQUENCE 147 AA; 16055 MW; F86BA4A09A57BB05 CRC64; MVHLTPEEKT AVNALWGKVN VDAVGGEALG RLLVVYPWTQ RFFESFGDLS SPDAVMGNPK VKAHGKKVLG AFSDGLAHLD NLKGTFSQLS ELHCDKLHVD PENFRLLGNV LVCVLARNFG KEFTPQMQAA YQKVVAGVAN ALAHKYH // ID HBEGF_HUMAN Reviewed; 208 AA. AC Q99075; DT 01-JUN-1994, integrated into UniProtKB/Swiss-Prot. DT 01-JUN-1994, sequence version 1. DT 04-NOV-2008, entry version 79. DE RecName: Full=Proheparin-binding EGF-like growth factor; DE Contains: DE RecName: Full=Heparin-binding EGF-like growth factor; DE Short=HB-EGF; DE Short=HBEGF; DE AltName: Full=Diphtheria toxin receptor; DE Short=DT-R; DE Flags: Precursor; GN Name=HBEGF; Synonyms=DTR, DTS, HEGFL; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA], AND PROTEIN SEQUENCE OF 73-93. RC TISSUE=Macrophage; RX MEDLINE=91157008; PubMed=1840698; RA Higashiyama S., Abraham J.A., Miller J., Fiddes J.C., Klagsbrun M.; RT "A heparin-binding growth factor secreted by macrophage-like cells RT that is related to EGF."; RL Science 251:936-939(1991). RN [2] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RA Rieder M.J., Livingston R.J., Daniels M.R., Montoya M.A., Chung M.-W., RA Miyamoto K.E., Nguyen C.P., Nguyen D.A., Poel C.L., Robertson P.D., RA Schackwitz W.S., Sherwood J.K., Witrak L.A., Nickerson D.A.; RT "NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department RT of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu)."; RL Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases. RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15372022; DOI=10.1038/nature02919; RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S., RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., RA Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., RA Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., RA Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., RA Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., RA Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., RA Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., RA Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., RA Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., RA Richardson P., Lucas S.M., Myers R.M., Rubin E.M.; RT "The DNA sequence and comparative analysis of human chromosome 5."; RL Nature 431:268-274(2004). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Eye; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [5] RP PROTEIN SEQUENCE OF 63-141 AND 143-148, AND GLYCOSYLATION AT THR-75 RP AND THR-85. RC TISSUE=Histiocytic lymphoma; RX MEDLINE=92210596; PubMed=1556128; RA Higashiyama S., Lau K., Besner G.E., Abraham J.A., Klagsbrun M.; RT "Structure of heparin-binding EGF-like growth factor. Multiple forms, RT primary structure, and glycosylation of the mature protein."; RL J. Biol. Chem. 267:6205-6212(1992). RN [6] RP DOMAIN TOXIN BINDING. RX MEDLINE=95138082; PubMed=7836353; DOI=10.1074/jbc.270.3.1015; RA Mitamura T., Higashiyama S., Taniguchi N., Klagsbrun M., Mekada E.; RT "Diphtheria toxin binds to the epidermal growth factor (EGF)-like RT domain of human heparin-binding EGF-like growth factor/diphtheria RT toxin receptor and inhibits specifically its mitogenic activity."; RL J. Biol. Chem. 270:1015-1019(1995). RN [7] RP X-RAY CRYSTALLOGRAPHY (2.65 ANGSTROMS) OF 73-147 IN COMPLEX WITH TOX. RX MEDLINE=98324089; PubMed=9659904; DOI=10.1016/S1097-2765(00)80008-8; RA Louie G.V., Yang W., Bowman M.E., Choe S.; RT "Crystal structure of the complex of diphtheria toxin with an RT extracellular fragment of its receptor."; RL Mol. Cell 1:67-78(1997). CC -!- FUNCTION: May be involved in macrophage-mediated cellular CC proliferation. It is mitogenic for fibroblasts and smooth muscle CC but not endothelial cells. It is able to bind EGF receptors with CC higher affinity than EGF itself and is a far more potent mitogen CC for smooth muscle cells than EGF. Also acts as a diphtheria toxin CC receptor. CC -!- SUBCELLULAR LOCATION: Heparin-binding EGF-like growth factor: CC Secreted, extracellular space. Note=Mature HB-EGF is released into CC the extracellular space and probably binds to a receptor. CC -!- SUBCELLULAR LOCATION: Proheparin-binding EGF-like growth factor: CC Cell membrane; Single-pass type I membrane protein. CC -!- PTM: Several N-termini have been identified by direct sequencing. CC The forms with N-termini 63, 73 and 74 have been tested and found CC to be biologically active. CC -!- PTM: O-linked glycan attachment sites were determined by Edman CC degradation, O-glycanase digest suggests mucin-type glycosylation CC (done in HB-EGF purified from histiocytic lymphoma cell line U- CC 937). CC -!- SIMILARITY: Contains 1 EGF-like domain. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; M60278; AAA35956.1; -; mRNA. DR EMBL; AY164533; AAN46738.1; -; Genomic_DNA. DR EMBL; AC004634; AAC15470.1; -; Genomic_DNA. DR EMBL; BC033097; AAH33097.1; -; mRNA. DR PIR; A38432; A38432. DR RefSeq; NP_001936.1; -. DR UniGene; Hs.799; -. DR PDB; 1XDT; X-ray; 2.65 A; R=73-147. DR PDBsum; 1XDT; -. DR DIP; DIP:114N; -. DR PhosphoSite; Q99075; -. DR Ensembl; ENSG00000113070; Homo sapiens. DR GeneID; 1839; -. DR KEGG; hsa:1839; -. DR H-InvDB; HIX0005230; -. DR HGNC; HGNC:3059; HBEGF. DR MIM; 126150; gene. DR PharmGKB; PA27513; -. DR HOGENOM; Q99075; -. DR HOVERGEN; Q99075; -. DR LinkHub; Q99075; -. DR NextBio; 7529; -. DR ArrayExpress; Q99075; -. DR CleanEx; HS_HBEGF; -. DR GermOnline; ENSG00000113070; Homo sapiens. DR GO; GO:0009986; C:cell surface; NAS:UniProtKB. DR GO; GO:0005615; C:extracellular space; TAS:UniProtKB. DR GO; GO:0005887; C:integral to plasma membrane; TAS:UniProtKB. DR GO; GO:0005154; F:epidermal growth factor receptor binding; TAS:ProtInc. DR GO; GO:0008201; F:heparin binding; IMP:UniProtKB. DR GO; GO:0007517; P:muscle development; TAS:ProtInc. DR GO; GO:0007165; P:signal transduction; TAS:ProtInc. DR InterPro; IPR006210; EGF. DR InterPro; IPR001336; EGF_1. DR InterPro; IPR000742; EGF_3. DR InterPro; IPR006209; EGF_like. DR InterPro; IPR013032; EGF_like_reg_CS. DR InterPro; IPR015497; EGF_rcpt_ligand. DR PANTHER; PTHR10740; EGF_rcpt_ligand; 1. DR Pfam; PF00008; EGF; 1. DR PRINTS; PR00009; EGFTGF. DR SMART; SM00181; EGF; 1. DR PROSITE; PS00022; EGF_1; 1. DR PROSITE; PS01186; EGF_2; 1. DR PROSITE; PS50026; EGF_3; 1. PE 1: Evidence at protein level; KW 3D-structure; Cell membrane; Direct protein sequencing; KW EGF-like domain; Glycoprotein; Growth factor; Heparin-binding; KW Membrane; Receptor; Secreted; Signal; Transmembrane. FT SIGNAL 1 19 Potential. FT CHAIN 20 208 Proheparin-binding EGF-like growth FT factor. FT /FTId=PRO_0000302803. FT PROPEP 20 62 Or 72, or 73, or 76, or 81. FT /FTId=PRO_0000007611. FT CHAIN 63 148 Heparin-binding EGF-like growth factor. FT /FTId=PRO_0000007612. FT PROPEP 149 208 C-terminal (Potential). FT /FTId=PRO_0000007613. FT TOPO_DOM 20 160 Extracellular (Potential). FT TRANSMEM 161 184 Potential. FT TOPO_DOM 185 208 Cytoplasmic (Potential). FT DOMAIN 104 144 EGF-like. FT SITE 141 141 Plays a critical role in diphtheria toxin FT binding and toxin sensitivity (By FT similarity). FT CARBOHYD 75 75 O-linked (GalNAc...). FT CARBOHYD 85 85 O-linked (GalNAc...). FT DISULFID 108 121 By similarity. FT DISULFID 116 132 By similarity. FT DISULFID 134 143 By similarity. FT TURN 108 114 FT STRAND 117 121 FT TURN 125 128 FT STRAND 132 134 FT STRAND 138 140 SQ SEQUENCE 208 AA; 23067 MW; 2C43C9D1D8291B51 CRC64; MKLLPSVVLK LFLAAVLSAL VTGESLERLR RGLAAGTSNP DPPTVSTDQL LPLGGGRDRK VRDLQEADLD LLRVTLSSKP QALATPNKEE HGKRKKKGKG LGKKRDPCLR KYKDFCIHGE CKYVKELRAP SCICHPGYHG ERCHGLSLPV ENRLYTYDHT TILAVVAVVL SSVCLLVIVG LLMFRYHRRG GYDVENEEKV KLGMTNSH // ID HBE_HUMAN Reviewed; 147 AA. AC P02100; DT 21-JUL-1986, integrated into UniProtKB/Swiss-Prot. DT 23-JAN-2007, sequence version 2. DT 04-NOV-2008, entry version 92. DE RecName: Full=Hemoglobin subunit epsilon; DE AltName: Full=Hemoglobin epsilon chain; DE AltName: Full=Epsilon-globin; GN Name=HBE1; Synonyms=HBE; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE. RX MEDLINE=81064664; PubMed=6254663; DOI=10.1016/0092-8674(80)90425-0; RA Baralle F.E., Shoulders C.C., Proudfoot N.J.; RT "The primary structure of the human epsilon-globin gene."; RL Cell 21:621-626(1980). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Lung; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [3] RP PROTEIN SEQUENCE OF 2-147. RX MEDLINE=82108309; PubMed=6172865; RA Clegg J.B.; RT "Embryonic hemoglobin: sequence of the epsilon and zeta chains."; RL Tex. Rep. Biol. Med. 40:23-28(1981). RN [4] RP X-RAY CRYSTALLOGRAPHY (2.9 ANGSTROMS) OF HB GOWER-2. RX MEDLINE=98332748; PubMed=9665850; DOI=10.1006/jmbi.1998.1868; RA Sutherland-Smith A.J., Baker H.M., Hofmann O.M., Brittain T., RA Baker E.N.; RT "Crystal structure of a human embryonic haemoglobin: the carbonmonoxy RT form of Gower II (alpha2 epsilon2) haemoglobin at 2.9-A resolution."; RL J. Mol. Biol. 280:475-484(1998). CC -!- FUNCTION: The epsilon chain is a beta-type chain of early CC mammalian embryonic hemoglobin. CC -!- SUBUNIT: Heterotetramer of two alpha chains and two epsilon chains CC in early embryonic hemoglobin Gower-2; two zeta chains and two CC epsilon chains in early embryonic hemoglobin Gower-1. CC -!- TISSUE SPECIFICITY: Red blood cells. CC -!- SIMILARITY: Belongs to the globin family. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; U01317; AAA16330.1; -; Genomic_DNA. DR EMBL; V00508; CAA23766.1; -; Genomic_DNA. DR EMBL; BC015537; AAH15537.1; -; mRNA. DR PIR; A90802; HEHU. DR RefSeq; NP_005321.1; -. DR UniGene; Hs.655195; -. DR PDB; 1A9W; X-ray; 2.90 A; E/F=1-147. DR PDBsum; 1A9W; -. DR DIP; DIP:27639N; -. DR PhosphoSite; P02100; -. DR PeptideAtlas; P02100; -. DR Ensembl; ENSG00000213931; Homo sapiens. DR GeneID; 3046; -. DR KEGG; hsa:3046; -. DR H-InvDB; HIX0009389; -. DR H-InvDB; HIX0079398; -. DR HGNC; HGNC:4830; HBE1. DR MIM; 142100; gene. DR PharmGKB; PA29205; -. DR HOVERGEN; P02100; -. DR LinkHub; P02100; -. DR NextBio; 12059; -. DR ArrayExpress; P02100; -. DR CleanEx; HS_HBE1; -. DR GermOnline; ENSG00000196565; Homo sapiens. DR GO; GO:0005833; C:hemoglobin complex; TAS:ProtInc. DR GO; GO:0005344; F:oxygen transporter activity; TAS:ProtInc. DR InterPro; IPR012292; Globin. DR InterPro; IPR000971; Globin_subset. DR InterPro; IPR002337; Haemoglobin_b. DR Gene3D; G3DSA:1.10.490.10; Globin_related; 1. DR PANTHER; PTHR11442:SF7; Beta_haem; 1. DR Pfam; PF00042; Globin; 1. DR PRINTS; PR00814; BETAHAEM. DR PROSITE; PS01033; GLOBIN; 1. PE 1: Evidence at protein level; KW 3D-structure; Direct protein sequencing; Heme; Iron; Metal-binding; KW Oxygen transport; Transport. FT INIT_MET 1 1 Removed. FT CHAIN 2 147 Hemoglobin subunit epsilon. FT /FTId=PRO_0000053212. FT METAL 64 64 Iron (heme distal ligand). FT METAL 93 93 Iron (heme proximal ligand). FT CONFLICT 143 143 A -> G (in Ref. 3; AA sequence). FT HELIX 6 18 FT TURN 21 23 FT HELIX 24 35 FT HELIX 37 41 FT HELIX 44 46 FT HELIX 52 57 FT HELIX 59 76 FT STRAND 79 81 FT TURN 83 86 FT HELIX 87 94 FT TURN 95 97 FT HELIX 102 119 FT HELIX 120 122 FT HELIX 125 142 SQ SEQUENCE 147 AA; 16203 MW; 223388816EDDE8D5 CRC64; MVHFTAEEKA AVTSLWSKMN VEEAGGEALG RLLVVYPWTQ RFFDSFGNLS SPSAILGNPK VKAHGKKVLT SFGDAIKNMD NLKPAFAKLS ELHCDKLHVD PENFKLLGNV MVIILATHFG KEFTPEVQAA WQKLVSAVAI ALAHKYH // ID HBG1_HUMAN Reviewed; 147 AA. AC P69891; P02096; P62027; Q96FH7; DT 21-JUL-1986, integrated into UniProtKB/Swiss-Prot. DT 23-JAN-2007, sequence version 2. DT 22-JUL-2008, entry version 57. DE RecName: Full=Hemoglobin subunit gamma-1; DE AltName: Full=Hemoglobin gamma-1 chain; DE AltName: Full=Gamma-1-globin; DE AltName: Full=Hemoglobin gamma-A chain; DE AltName: Full=Hb F Agamma; GN Name=HBG1; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX MEDLINE=81064665; PubMed=7438203; DOI=10.1016/0092-8674(80)90426-2; RA Slightom J.L., Blechl A.E., Smithies O.; RT "Human fetal G gamma- and A gamma-globin genes: complete nucleotide RT sequences suggest that DNA can be exchanged between these duplicated RT genes."; RL Cell 21:627-638(1980). RN [2] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX MEDLINE=82137053; PubMed=7332928; DOI=10.1016/0092-8674(81)90302-0; RA Shen S., Slightom J.L., Smithies O.; RT "A history of the human fetal globin gene duplication."; RL Cell 26:191-203(1981). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT THR-76. RC TISSUE=Lung, and Placenta; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [4] RP PROTEIN SEQUENCE OF 32-60 AND 106-121, AND MASS SPECTROMETRY. RC TISSUE=Brain, and Cajal-Retzius cell; RA Lubec G., Afjehi-Sadat L.; RL Submitted (MAR-2007) to UniProtKB. RN [5] RP OXIDATION AT LEU-142. RX PubMed=7690768; RA Wilson J.B., Brennan S.O., Allen J., Shaw J.G., Gu L.H., Huisman T.H.; RT "The M gamma chain of human fetal hemoglobin is an A gamma chain with RT an in vitro modification of gamma 141 leucine to hydroxyleucine."; RL J. Chromatogr. A 617:37-42(1993). RN [6] RP X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF HOMOTETRAMER. RX PubMed=11514664; DOI=10.1110/ps.11701; RA Kidd R.D., Baker H.M., Mathews A.J., Brittain T., Baker E.N.; RT "Oligomerization and ligand binding in a homotetrameric hemoglobin: RT two high-resolution crystal structures of hemoglobin Bart's RT (gamma(4)), a marker for alpha-thalassemia."; RL Protein Sci. 10:1739-1749(2001). RN [7] RP ACETYLATION AT GLY-2. RX MEDLINE=71166470; PubMed=5554303; RA Stegink L.D., Meyer P.D., Brummel M.C.; RT "Human fetal hemoglobin F 1. Acetylation status."; RL J. Biol. Chem. 246:3001-3007(1971). RN [8] RP VARIANT BASKENT THR-129. RX MEDLINE=88256746; PubMed=2454900; RA Altay C., Gurgey A., Wilson J.B., Hu H., Webber B.B., Kutlar F., RA Huisman T.H.J.; RT "Hb F-Baskent or alpha 2A gamma 128(H6)Ala-->Thr."; RL Hemoglobin 12:87-89(1988). RN [9] RP VARIANT BEECH ISLAND ASP-54. RX MEDLINE=86111142; PubMed=2417989; RA Chen S.S., Wilson J.B., Webber B.B., Huisman T.H.J.; RT "Hb F-Beech Island or alpha 2A gamma 2(53)(D4)Ala-->Asp."; RL Hemoglobin 9:525-529(1985). RN [10] RP VARIANT BONAIRE ARG-40. RX MEDLINE=83135044; PubMed=6186637; RA Nakatsuji T., Headlee M., Lam H., Wilson J.B., Huisman T.H.J.; RT "Hb F-Bonaire-Ga or alpha 2 A gamma 2 39(C5) Gln replaced by Arg, RT characterized by high pressure liquid chromatographic and RT microsequencing procedures."; RL Hemoglobin 6:599-606(1982). RN [11] RP VARIANT CALLUNA ARG-13. RX MEDLINE=84135126; PubMed=6199326; RA Nakatsuji T., Lam H., Huisman T.H.J.; RT "Hb F-Calluna or alpha 2 gamma 2(12 Thr replaced by Arg; 75Ile; RT 136Ala) in a Caucasian baby."; RL Hemoglobin 7:563-566(1983). RN [12] RP VARIANT COBB GLY-38. RX MEDLINE=86139294; PubMed=2419280; RA Chen S.S., Webber B.B., Kutlar A., Wilson J.B., Huisman T.H.J.; RT "Hb F-Cobb or alpha(2)A gamma(2)37(C3)Trp-->Gly."; RL Hemoglobin 9:617-619(1985). RN [13] RP VARIANT DAMMAM ASN-80. RX MEDLINE=85288321; PubMed=2411679; RA Al-Awamy B.H., Niazi G.A., Al-Mouzan M.I., Wilson J.B., Chen S.S., RA Webber B.B., Huisman T.H.J.; RT "Hb F-Dammam or alpha 2A gamma 2(79) (EF3) Asp-->Asn."; RL Hemoglobin 9:171-173(1985). RN [14] RP VARIANT DICKINSON ARG-98. RX MEDLINE=75127839; PubMed=4455303; RA Schneider R.G., Haggard M.E., Gustavson L.P., Brimhall B., Jones R.T.; RT "Genetic haemoglobin abnormalities in about 9000 Black and 7000 White RT newborns; haemoglobin F Dickinson (Agamma97His-Arg), a new variant."; RL Br. J. Haematol. 28:515-524(1974). RN [15] RP VARIANT FUKUYAMA ASN-44. RX MEDLINE=89197553; PubMed=2467893; RA Hidaka K., Iuchi I., Nakahara H., Iwakawa G.; RT "Hb F-Fukuyama or A gamma T43(CD2)Asp-->Asn."; RL Hemoglobin 13:93-96(1989). RN [16] RP VARIANT HULL LYS-122. RX PubMed=6038320; RA Sacker L.S., Beale D., Black A.J., Huntsman R.G., Lehmann H., RA Lorkin P.A.; RT "Haemoglobin F Hull (gamma-121 glutamic acid-->lysine), homologous RT with haemoglobins O Arab and O Indonesia."; RL BMJ 3:531-533(1967). RN [17] RP VARIANT IWATA ARG-73. RX PubMed=6163752; RA Fuyuno K., Torigoe T., Ohba Y., Matsuoka M., Miyaji T.; RT "Survey of cord blood hemoglobin in Japan and identification of two RT new gamma chain variants."; RL Hemoglobin 5:139-151(1981). RN [18] RP VARIANT IZUMI GLY-7. RX MEDLINE=84104888; PubMed=6197997; DOI=10.1016/0167-4838(83)90231-5; RA Wada Y., Hayashi A., Masanori F., Katakuse I., Ichihara T., RA Nakabushi H., Matsuo T., Sakurai T., Matsuda H.; RT "Characterization of a new fetal hemoglobin variant, Hb F Izumi A RT gamma 6Glu replaced by Gly, by molecular secondary ion mass RT spectrometry."; RL Biochim. Biophys. Acta 749:244-248(1983). RN [19] RP VARIANT JAMAICA GLU-62. RX MEDLINE=71076040; PubMed=5491586; RA Ahern E.J., Jones R.T., Brimhall B., Gray R.H.; RT "Haemoglobin F Jamaica (alpha-2 gamma-2 61 Lys leads to Glu; 136 RT Ala)."; RL Br. J. Haematol. 18:369-375(1970). RN [20] RP VARIANT JIANGSU MET-135. RX MEDLINE=91107342; PubMed=1703137; RA Plaseska D., Kutlar F., Wilson J.B., Webber B.B., Zeng Y.-T., RA Huisman T.H.J.; RT "Hb F-Jiangsu, the first gamma chain variant with a valine->methionine RT substitution: alpha 2A gamma 2 134(H12)Val->Met."; RL Hemoglobin 14:177-183(1990). RN [21] RP VARIANT KOTOBUKI GLY-7. RX MEDLINE=82166887; PubMed=6175602; RA Yoshinaka H., Ohba Y., Hattori Y., Matsuoka M., Miyaji T., Fuyuno K.; RT "A new gamma chain variant, HB F Kotobuki or AI gamma 6 (A3) Glu leads RT to Gly."; RL Hemoglobin 6:37-42(1982). RN [22] RP VARIANT KUALA LUMPUR GLY-23. RX MEDLINE=74062194; PubMed=4765089; RA Lie-Injo L.E., Wiltshire B.B., Lehmann H.; RT "Structural identification of haemoglobin F Kuala Lumpur: alpha2 RT gamma2 22(B4)Asp leads to Gly; 136 Ala."; RL Biochim. Biophys. Acta 322:224-230(1973). RN [23] RP VARIANT MACEDONIA-I GLN-3. RX PubMed=7928382; RA Plaseska D., Cepreganova-Krstik B., Momirovska A., Efremov G.D.; RT "Hb F-Macedonia-I or alpha 2A gamma (2)2(NA2)His-->Gln."; RL Hemoglobin 18:241-245(1994). RN [24] RP VARIANT PENDERGRASS ARG-37. RX MEDLINE=85206967; PubMed=2581920; RA Chen S.S., Wilson J.B., Huisman T.H.J.; RT "Hb F-Pendergrass, an A gamma I variant with a Pro-->Arg substitution RT at position gamma 36(C2)."; RL Hemoglobin 9:73-77(1985). RN [25] RP VARIANT PORDENONE GLN-7. RX MEDLINE=83056271; PubMed=6183236; RA Nakatsuji T., Webber B., Lam H., Wilson J.B., Huisman T.H.J., RA Sciarratta G.V., Sansone G., Molaro G.L.; RT "A new gamma chain variant: Hb F-Pordenone [gamma 6(A3) Glu replaced RT by Gln: 75ILE: 136ALA]."; RL Hemoglobin 6:397-401(1982). RN [26] RP VARIANT SARDINIA THR-76. RX MEDLINE=76015698; PubMed=808940; RA Grifone V., Kamuzora H., Lehmann H., Charlesworth D.; RT "A new Hb variant: Hb F Sardinia gamma75(E19) isoleucine leads to RT threonine found in a family with Hb G Philadelphia, beta-chain RT deficiency and a Lepore-like haemoglobin indistinguishable from Hb RT A2."; RL Acta Haematol. 53:347-355(1975). RN [27] RP VARIANT SIENA LYS-122. RX MEDLINE=83185443; PubMed=6188719; RA Care A., Marinucci M., Massa A., Maffi D., Sposi N.M., Improta T., RA Tentori L.; RT "Hb F-Siena (alpha 2 a gamma t2 121 (GH4) Glu leads to Lys). A new RT fetal hemoglobin variant."; RL Hemoglobin 7:79-83(1983). RN [28] RP VARIANT TEXAS-1 LYS-6. RX MEDLINE=67095305; PubMed=6019034; RA Jenkins G.C., Beale D., Black A.J., Huntsman R.G., Lehmann H.; RT "Haemoglobin F Texas I(alpha-2,gamma-2-5glu-lys): a variant of RT haemoglobin F."; RL Br. J. Haematol. 13:252-255(1967). RN [29] RP VARIANT VICTORIA JUBILEE TYR-81. RX MEDLINE=75184108; PubMed=1138921; RA Ahern E., Holder W., Ahern V., Serjeant G.R., Serjeant B., Forbes M., RA Brimhall B., Jones R.T.; RT "Haemoglobin F Victoria Jubilee (alpha 2 A gamma 2 80 Asp-Try)."; RL Biochim. Biophys. Acta 393:188-194(1975). RN [30] RP VARIANT WOODSTOCK LYS-41. RX PubMed=1802881; RA Huisman T.H.J., Kutlar F., Gu L.H.; RT "Gamma chain abnormalities and gamma-globin gene rearrangements in RT newborn babies of various populations."; RL Hemoglobin 15:349-379(1991). RN [31] RP VARIANT XIN-SU HIS-74. RX MEDLINE=88114686; PubMed=2448269; RA Ma M., Hu H., Kutlar F., Wilson J.B., Huisman T.H.J.; RT "Hb F-Xin-Su or A gamma I73(E17)Asp-->His: a new slow-moving fetal RT hemoglobin variant."; RL Hemoglobin 11:473-479(1987). RN [32] RP VARIANT XINJIANG ARG-26. RX MEDLINE=88114685; PubMed=2448268; RA Hu H., Ma M.; RT "Hb F-Xinjiang or A gamma T25(B7)Gly-->Arg: a new slow-moving unstable RT fetal hemoglobin variant."; RL Hemoglobin 11:465-472(1987). RN [33] RP VARIANT YAMAGUCHI ASN-81. RX PubMed=6198905; RA Nakatsuji T., Ohba Y., Huisman T.H.J.; RT "HB F-Yamaguchi (gamma 75Thr, gamma 80Asn, gamma 136Ala) is associated RT with G gamma-thalassemia."; RL Am. J. Hematol. 16:189-192(1984). CC -!- FUNCTION: Gamma chains make up the fetal hemoglobin F, in CC combination with alpha chains. CC -!- SUBUNIT: Heterotetramer of two alpha chains and two gamma chains CC in fetal hemoglobin (Hb F). In the case of deletions affecting one CC or more of the alpha chains the excess gamma chains form CC homotetramers that exhibit neither Bohr effect nor heme-heme CC cooperativity (hemoglobin Bart's). CC -!- INTERACTION: CC P60520:GABARAPL2; NbExp=1; IntAct=EBI-1056789, EBI-720116; CC -!- TISSUE SPECIFICITY: Red blood cells. CC -!- DEVELOPMENTAL STAGE: Expressed until four or five weeks after CC birth. CC -!- PTM: Acetylation of Gly-2 converts Hb F to the minor Hb F1. CC -!- DISEASE: Some gamma variants can cause severe jaundice and CC cyanosis in premature and new born babies. CC -!- SIMILARITY: Belongs to the globin family. CC -!- WEB RESOURCE: Name=HbVar; Note=Human hemoglobin variants and CC thalassemias; CC URL="http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBG1"; CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; M91036; AAB59429.1; -; Genomic_DNA. DR EMBL; M91037; AAA58493.1; -; Genomic_DNA. DR EMBL; V00513; CAA23771.1; -; Genomic_DNA. DR EMBL; V00514; CAA23772.1; -; Genomic_DNA. DR EMBL; J00176; AAA52637.1; -; Genomic_DNA. DR EMBL; U01317; AAA16332.1; -; Genomic_DNA. DR EMBL; BC010913; AAH10913.1; -; mRNA. DR EMBL; BC020719; AAH20719.1; -; mRNA. DR PIR; A90803; HGHUA. DR UniGene; Hs.705371; -. DR PDB; 1I3D; X-ray; 1.70 A; A/B=1-147. DR PDB; 1I3E; X-ray; 1.86 A; A/B=1-147. DR PDBsum; 1I3D; -. DR PDBsum; 1I3E; -. DR IntAct; P69891; -. DR PhosphoSite; P69891; -. DR Ensembl; ENSG00000196565; Homo sapiens. DR HGNC; HGNC:4831; HBG1. DR MIM; 142200; gene. DR PharmGKB; PA29206; -. DR HOVERGEN; P69891; -. DR LinkHub; P69891; -. DR ArrayExpress; P69891; -. DR CleanEx; HS_HBG1; -. DR GermOnline; ENSG00000196565; Homo sapiens. DR GO; GO:0005515; F:protein binding; IPI:IntAct. DR InterPro; IPR012292; Globin. DR InterPro; IPR000971; Globin_subset. DR InterPro; IPR002337; Haemoglobin_b. DR Gene3D; G3DSA:1.10.490.10; Globin_related; 1. DR PANTHER; PTHR11442:SF7; Beta_haem; 1. DR Pfam; PF00042; Globin; 1. DR PRINTS; PR00814; BETAHAEM. DR PROSITE; PS01033; GLOBIN; 1. PE 1: Evidence at protein level; KW 3D-structure; Acetylation; Direct protein sequencing; KW Disease mutation; Heme; Iron; Metal-binding; Oxygen transport; KW Polymorphism; Transport. FT INIT_MET 1 1 Removed (By similarity). FT CHAIN 2 147 Hemoglobin subunit gamma-1. FT /FTId=PRO_0000053253. FT METAL 64 64 Iron (heme distal ligand). FT METAL 93 93 Iron (heme proximal ligand). FT SITE 142 142 Susceptible to oxidation; in form M FT (Probable). FT MOD_RES 2 2 N-acetylglycine; in form Hb F1. FT VARIANT 3 3 H -> Q (in Macedonia-I). FT /FTId=VAR_003124. FT VARIANT 6 6 E -> K (in Texas-1). FT /FTId=VAR_003125. FT VARIANT 7 7 E -> G (in Izumi/Kotobuki). FT /FTId=VAR_003127. FT VARIANT 7 7 E -> Q (in Pordenone). FT /FTId=VAR_003128. FT VARIANT 13 13 T -> R (in Calluna). FT /FTId=VAR_003130. FT VARIANT 23 23 D -> G (in Kuala Lumpur). FT /FTId=VAR_003135. FT VARIANT 26 26 G -> R (in Xinjiang; unstable). FT /FTId=VAR_003138. FT VARIANT 37 37 P -> R (in Pendergrass). FT /FTId=VAR_003141. FT VARIANT 38 38 W -> G (in Cobb). FT /FTId=VAR_003142. FT VARIANT 40 40 Q -> R (in Bonaire). FT /FTId=VAR_003143. FT VARIANT 41 41 R -> K (in Woodstock). FT /FTId=VAR_003145. FT VARIANT 44 44 D -> N (in Fukuyama). FT /FTId=VAR_003147. FT VARIANT 54 54 A -> D (in Beech island). FT /FTId=VAR_003149. FT VARIANT 62 62 K -> E (in Jamaica). FT /FTId=VAR_003153. FT VARIANT 73 73 G -> R (in Iwata). FT /FTId=VAR_003158. FT VARIANT 74 74 D -> H (in Xin-su). FT /FTId=VAR_003160. FT VARIANT 74 74 D -> N (in Forest Park; associated with FT T-76). FT /FTId=VAR_003159. FT VARIANT 76 76 I -> T (in Sardinia/Forest Park; FT associated with N-74; dbSNP:rs1061234). FT /FTId=VAR_003161. FT VARIANT 80 80 D -> N (in Dammam). FT /FTId=VAR_003163. FT VARIANT 81 81 D -> N (in Yamaguchi). FT /FTId=VAR_003165. FT VARIANT 81 81 D -> Y (in Victoria jubilee). FT /FTId=VAR_003164. FT VARIANT 98 98 H -> R (in Dickinson). FT /FTId=VAR_003168. FT VARIANT 122 122 E -> K (in Siena/Hull). FT /FTId=VAR_003173. FT VARIANT 129 129 A -> T (in Baskent). FT /FTId=VAR_003175. FT VARIANT 135 135 V -> M (in Jiangsu). FT /FTId=VAR_003177. FT HELIX 6 17 FT HELIX 21 35 FT HELIX 37 46 FT HELIX 52 57 FT HELIX 59 75 FT HELIX 76 81 FT HELIX 82 85 FT HELIX 87 94 FT TURN 95 97 FT HELIX 101 119 FT HELIX 120 122 FT HELIX 125 142 FT HELIX 144 146 SQ SEQUENCE 147 AA; 16140 MW; 8FCDC3DA1B416DDE CRC64; MGHFTEEDKA TITSLWGKVN VEDAGGETLG RLLVVYPWTQ RFFDSFGNLS SASAIMGNPK VKAHGKKVLT SLGDAIKHLD DLKGTFAQLS ELHCDKLHVD PENFKLLGNV LVTVLAIHFG KEFTPEVQAS WQKMVTAVAS ALSSRYH //