HBG1_HUMAN
ID HBG1_HUMAN Reviewed; 147 AA.
AC P69891; P02096; P62027; Q549G1; Q8TDA1; Q96FH7;
DT 21-JUL-1986, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2007, sequence version 2.
DT 03-AUG-2022, entry version 178.
DE RecName: Full=Hemoglobin subunit gamma-1;
DE AltName: Full=Gamma-1-globin;
DE AltName: Full=Hb F Agamma;
DE AltName: Full=Hemoglobin gamma-1 chain;
DE AltName: Full=Hemoglobin gamma-A chain;
GN Name=HBG1; ORFNames=PRO2979;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX 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 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].
RC TISSUE=Fetal liver;
RA Zhang C., Yu Y., Zhang S., Wei H., Bi J., Zhou G., Dong C., Zai Y., Xu W.,
RA Gao F., Liu M., He F.;
RT "Functional prediction of the coding sequences of 75 new genes deduced by
RT analysis of cDNA clones from human fetal liver.";
RL Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-30.
RA Seelig H.-P., Vogel M., Wiemann C., Renz M.;
RT "Homo sapiens HBG1 gene with a 4 bp deletion upstream of the promoter
RT region.";
RL Submitted (FEB-2002) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP PROTEIN SEQUENCE OF 2-60; 67-77 AND 84-145, AND IDENTIFICATION BY MASS
RP SPECTROMETRY.
RC TISSUE=Brain, Cajal-Retzius cell, and Fetal brain cortex;
RA Lubec G., Afjehi-Sadat L., Chen W.-Q., Sun Y.;
RL Submitted (DEC-2008) to UniProtKB.
RN [8]
RP MODIFICATION AT LEU-142.
RX PubMed=7690768; DOI=10.1016/0378-4347(93)80418-4;
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 an in
RT vitro modification of gamma 141 leucine to hydroxyleucine.";
RL J. Chromatogr. A 617:37-42(1993).
RN [9]
RP INDUCTION.
RX PubMed=16131492; DOI=10.1074/jbc.m504402200;
RA Blau C.A., Barbas C.F., Bomhoff A.L., Neades R., Yan J., Navas P.A.,
RA Peterson K.R.;
RT "{gamma}-Globin gene expression in chemical inducer of dimerization (CID)-
RT dependent multipotential cells established from human {beta}-globin locus
RT yeast artificial chromosome ({beta}-YAC) transgenic mice.";
RL J. Biol. Chem. 280:36642-36647(2005).
RN [10]
RP SUBUNIT, AND DEVELOPMENTAL STAGE.
RX PubMed=20925047; DOI=10.1002/pd.2619;
RA Li T.K., Leung K.Y., Lam Y.H., Tang M.H., Chan V.;
RT "Haemoglobin level, proportion of haemoglobin Bart's and haemoglobin
RT Portland in fetuses affected by homozygous alpha0-thalassemia from 12 to 40
RT weeks' gestation.";
RL Prenat. Diagn. 30:1126-1130(2010).
RN [11]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [12]
RP SUBUNIT, AND DEVELOPMENTAL STAGE.
RX PubMed=21747884; DOI=10.5045/kjh.2011.46.2.118;
RA Olufemi A.E., Sola O.B., Oluwaseyi B.E., Ajani R.A., Olusoji M.O.,
RA Olubunmi H.R.;
RT "Hemoglobin F level in different hemoglobin variants.";
RL Korean J. Hematol. 46:118-122(2011).
RN [13]
RP FUNCTION, SUBUNIT, AND DEVELOPMENTAL STAGE.
RX PubMed=22096240; DOI=10.1182/blood-2011-09-382408;
RA Musallam K.M., Sankaran V.G., Cappellini M.D., Duca L., Nathan D.G.,
RA Taher A.T.;
RT "Fetal hemoglobin levels and morbidity in untransfused patients with beta-
RT thalassemia intermedia.";
RL Blood 119:364-367(2012).
RN [14]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-45; SER-51; SER-53 AND
RP SER-140, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [15]
RP X-RAY CRYSTALLOGRAPHY (1.70 ANGSTROMS) OF 2-147 IN COMPLEX WITH HEME,
RP FUNCTION, SUBUNIT, AND 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: two
RT high-resolution crystal structures of hemoglobin Bart's (gamma(4)), a
RT marker for alpha-thalassemia.";
RL Protein Sci. 10:1739-1749(2001).
RN [16]
RP ACETYLATION AT GLY-2.
RX PubMed=5554303; DOI=10.1016/s0021-9258(18)62282-3;
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 [17]
RP VARIANT BASKENT THR-129.
RX PubMed=2454900; DOI=10.3109/03630268808996888;
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 [18]
RP VARIANT BEECH ISLAND ASP-54.
RX PubMed=2417989; DOI=10.3109/03630268508997032;
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 [19]
RP VARIANT BONAIRE ARG-40.
RX PubMed=6186637; DOI=10.3109/03630268209046453;
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 microsequencing
RT procedures.";
RL Hemoglobin 6:599-606(1982).
RN [20]
RP VARIANT CALLUNA ARG-13.
RX PubMed=6199326; DOI=10.3109/03630268309027936;
RA Nakatsuji T., Lam H., Huisman T.H.J.;
RT "Hb F-Calluna or alpha 2 gamma 2(12 Thr replaced by Arg; 75Ile; 136Ala) in
RT a Caucasian baby.";
RL Hemoglobin 7:563-566(1983).
RN [21]
RP VARIANT COBB GLY-38.
RX PubMed=2419280; DOI=10.3109/03630268508997043;
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 [22]
RP VARIANT DAMMAM ASN-80.
RX PubMed=2411679; DOI=10.3109/03630268508996998;
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 [23]
RP VARIANT DICKINSON ARG-98.
RX PubMed=4455303; DOI=10.1111/j.1365-2141.1974.tb06670.x;
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 [24]
RP VARIANT FUKUYAMA ASN-44.
RX PubMed=2467893; DOI=10.3109/03630268908998058;
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 [25]
RP VARIANT HULL LYS-122.
RX PubMed=6038320; DOI=10.1136/bmj.3.5564.531;
RA Sacker L.S., Beale D., Black A.J., Huntsman R.G., Lehmann H., Lorkin P.A.;
RT "Haemoglobin F Hull (gamma-121 glutamic acid-->lysine), homologous with
RT haemoglobins O Arab and O Indonesia.";
RL BMJ 3:531-533(1967).
RN [26]
RP VARIANT IWATA ARG-73.
RX PubMed=6163752; DOI=10.3109/03630268108996920;
RA Fuyuno K., Torigoe T., Ohba Y., Matsuoka M., Miyaji T.;
RT "Survey of cord blood hemoglobin in Japan and identification of two new
RT gamma chain variants.";
RL Hemoglobin 5:139-151(1981).
RN [27]
RP VARIANT IZUMI GLY-7.
RX PubMed=6197997; DOI=10.1016/0167-4838(83)90231-5;
RA Wada Y., Hayashi A., Masanori F., Katakuse I., Ichihara T., Nakabushi H.,
RA Matsuo T., Sakurai T., Matsuda H.;
RT "Characterization of a new fetal hemoglobin variant, Hb F Izumi A gamma
RT 6Glu replaced by Gly, by molecular secondary ion mass spectrometry.";
RL Biochim. Biophys. Acta 749:244-248(1983).
RN [28]
RP VARIANT JAMAICA GLU-62.
RX PubMed=5491586; DOI=10.1111/j.1365-2141.1970.tb01450.x;
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 Ala).";
RL Br. J. Haematol. 18:369-375(1970).
RN [29]
RP VARIANT JIANGSU MET-135.
RX PubMed=1703137; DOI=10.3109/03630269009046959;
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 [30]
RP VARIANT KOTOBUKI GLY-7.
RX PubMed=6175602; DOI=10.3109/03630268208996931;
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 to
RT Gly.";
RL Hemoglobin 6:37-42(1982).
RN [31]
RP VARIANT KUALA LUMPUR GLY-23.
RX PubMed=4765089; DOI=10.1016/0005-2795(73)90297-3;
RA Lie-Injo L.E., Wiltshire B.B., Lehmann H.;
RT "Structural identification of haemoglobin F Kuala Lumpur: alpha2 gamma2
RT 22(B4)Asp leads to Gly; 136 Ala.";
RL Biochim. Biophys. Acta 322:224-230(1973).
RN [32]
RP VARIANT MACEDONIA-I GLN-3.
RX PubMed=7928382; DOI=10.3109/03630269409043626;
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 [33]
RP VARIANT PENDERGRASS ARG-37.
RX PubMed=2581920; DOI=10.3109/03630268508996985;
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 at
RT position gamma 36(C2).";
RL Hemoglobin 9:73-77(1985).
RN [34]
RP VARIANT PORDENONE GLN-7.
RX PubMed=6183236; DOI=10.3109/03630268208996945;
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 by
RT Gln: 75ILE: 136ALA].";
RL Hemoglobin 6:397-401(1982).
RN [35]
RP VARIANT SARDINIA THR-76.
RX PubMed=808940; DOI=10.1159/000208204;
RA Grifone V., Kamuzora H., Lehmann H., Charlesworth D.;
RT "A new Hb variant: Hb F Sardinia gamma75(E19) isoleucine leads to threonine
RT found in a family with Hb G Philadelphia, beta-chain deficiency and a
RT Lepore-like haemoglobin indistinguishable from Hb A2.";
RL Acta Haematol. 53:347-355(1975).
RN [36]
RP VARIANT SIENA LYS-122.
RX PubMed=6188719; DOI=10.3109/03630268309038403;
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 fetal
RT hemoglobin variant.";
RL Hemoglobin 7:79-83(1983).
RN [37]
RP VARIANT TEXAS-1 LYS-6.
RX PubMed=6019034; DOI=10.1111/j.1365-2141.1967.tb08737.x;
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 haemoglobin
RT F.";
RL Br. J. Haematol. 13:252-255(1967).
RN [38]
RP VARIANT VICTORIA JUBILEE TYR-81.
RX PubMed=1138921; DOI=10.1016/0005-2795(75)90230-5;
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 [39]
RP VARIANT WOODSTOCK LYS-41.
RX PubMed=1802881; DOI=10.3109/03630269108998857;
RA Huisman T.H.J., Kutlar F., Gu L.H.;
RT "Gamma chain abnormalities and gamma-globin gene rearrangements in newborn
RT babies of various populations.";
RL Hemoglobin 15:349-379(1991).
RN [40]
RP VARIANT XIN-SU HIS-74.
RX PubMed=2448269; DOI=10.3109/03630268708998007;
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 [41]
RP VARIANT XINJIANG ARG-26.
RX PubMed=2448268; DOI=10.3109/03630268708998006;
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 [42]
RP FUNCTION, AND VARIANT YAMAGUCHI ASN-81.
RX PubMed=6198905; DOI=10.1002/ajh.2830160212;
RA Nakatsuji T., Ohba Y., Huisman T.H.J.;
RT "HB F-Yamaguchi (gamma 75Thr, gamma 80Asn, gamma 136Ala) is associated with
RT G gamma-thalassemia.";
RL Am. J. Hematol. 16:189-192(1984).
CC -!- FUNCTION: Gamma chains make up the fetal hemoglobin F, in combination
CC with alpha chains. {ECO:0000269|PubMed:11514664,
CC ECO:0000269|PubMed:22096240, ECO:0000269|PubMed:6198905}.
CC -!- SUBUNIT: Heterotetramer of two alpha chains and two gamma chains in
CC fetal hemoglobin (Hb F). In the case of deletions affecting one or more
CC of the alpha chains, the excess gamma chains form homotetramers that
CC exhibit neither Bohr effect nor heme-heme cooperativity (hemoglobin
CC Bart's). {ECO:0000269|PubMed:11514664, ECO:0000269|PubMed:20925047,
CC ECO:0000269|PubMed:21747884, ECO:0000269|PubMed:22096240}.
CC -!- TISSUE SPECIFICITY: Red blood cells.
CC -!- DEVELOPMENTAL STAGE: Expressed until four or five weeks after birth.
CC Detected at very low levels in adults, where it constitutes about 1% of
CC the total hemoglobin. In contrast, the levels of fetal hemoglobin F
CC (two alpha chains and two gamma chains) are increased in children and
CC adults with beta-thalassemia or sickle-cell disease. In cases of
CC homozygous alpha-thalassemia, homotetrameric hemoglobin Bart's is
CC highly expressed and is the predominant form of hemoglobin after 10
CC weeks of gestation. Its levels increase steadily after 10 weeks of
CC gestation and until birth (at protein level).
CC {ECO:0000269|PubMed:20925047, ECO:0000269|PubMed:21747884,
CC ECO:0000269|PubMed:22096240}.
CC -!- INDUCTION: By 5-azacytidine. {ECO:0000269|PubMed:16131492}.
CC -!- PTM: Acetylation of Gly-2 converts Hb F to the minor Hb F1.
CC {ECO:0000269|PubMed:5554303}.
CC -!- SIMILARITY: Belongs to the globin family. {ECO:0000255|PROSITE-
CC ProRule:PRU00238}.
CC -!- CAUTION: The modification form of Leu-142 is subject of controversy and
CC could be the artifactual result of sample handling.
CC {ECO:0000305|PubMed:7690768}.
CC -!- WEB RESOURCE: Name=HbVar; Note=Human hemoglobin variants and
CC thalassemias;
CC URL="https://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBG1";
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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; AF130098; AAG35523.1; -; mRNA.
DR EMBL; CH471064; EAW68804.1; -; Genomic_DNA.
DR EMBL; BC010913; AAH10913.1; -; mRNA.
DR EMBL; BC020719; AAH20719.1; -; mRNA.
DR EMBL; AF487523; AAL99545.1; -; Genomic_DNA.
DR CCDS; CCDS7754.1; -.
DR PIR; A90803; HGHUA.
DR RefSeq; NP_000550.2; NM_000559.2.
DR PDB; 1I3D; X-ray; 1.70 A; A/B=2-147.
DR PDB; 1I3E; X-ray; 1.86 A; A/B=2-147.
DR PDBsum; 1I3D; -.
DR PDBsum; 1I3E; -.
DR AlphaFoldDB; P69891; -.
DR SMR; P69891; -.
DR BioGRID; 109297; 14.
DR ComplexPortal; CPX-2930; Hemoglobin Portland-1 Variant 1 complex.
DR ComplexPortal; CPX-2932; Hemoglobin HbF Variant 1 complex.
DR ComplexPortal; CPX-2934; Hemoglobin Bart's complex.
DR IntAct; P69891; 3.
DR iPTMnet; P69891; -.
DR PhosphoSitePlus; P69891; -.
DR BioMuta; HBG1; -.
DR DMDM; 56749860; -.
DR jPOST; P69891; -.
DR MassIVE; P69891; -.
DR MaxQB; P69891; -.
DR PeptideAtlas; P69891; -.
DR PRIDE; P69891; -.
DR ProteomicsDB; 57545; -.
DR ABCD; P69891; 1 sequenced antibody.
DR Antibodypedia; 23583; 177 antibodies from 28 providers.
DR DNASU; 3047; -.
DR Ensembl; ENST00000330597.5; ENSP00000327431.4; ENSG00000213934.9.
DR GeneID; 3047; -.
DR KEGG; hsa:3047; -.
DR UCSC; uc001mah.2; human.
DR CTD; 3047; -.
DR DisGeNET; 3047; -.
DR GeneCards; HBG1; -.
DR HGNC; HGNC:4831; HBG1.
DR HPA; ENSG00000213934; Tissue enriched (placenta).
DR MalaCards; HBG1; -.
DR MIM; 142200; gene.
DR neXtProt; NX_P69891; -.
DR Orphanet; 231237; Delta-beta-thalassemia.
DR Orphanet; 46532; Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome.
DR Orphanet; 251380; Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome.
DR PharmGKB; PA29206; -.
DR VEuPathDB; HostDB:ENSG00000213934; -.
DR GeneTree; ENSGT00940000162659; -.
DR HOGENOM; CLU_003827_10_0_1; -.
DR InParanoid; P69891; -.
DR OrthoDB; 1370439at2759; -.
DR PhylomeDB; P69891; -.
DR TreeFam; TF333268; -.
DR PathwayCommons; P69891; -.
DR Reactome; R-HSA-983231; Factors involved in megakaryocyte development and platelet production.
DR SignaLink; P69891; -.
DR SIGNOR; P69891; -.
DR BioGRID-ORCS; 3047; 9 hits in 979 CRISPR screens.
DR ChiTaRS; HBG1; human.
DR EvolutionaryTrace; P69891; -.
DR GenomeRNAi; 3047; -.
DR Pharos; P69891; Tbio.
DR PRO; PR:P69891; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; P69891; protein.
DR Bgee; ENSG00000213934; Expressed in placenta and 86 other tissues.
DR ExpressionAtlas; P69891; baseline and differential.
DR Genevisible; P69891; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0031838; C:haptoglobin-hemoglobin complex; IBA:GO_Central.
DR GO; GO:0005833; C:hemoglobin complex; IPI:ComplexPortal.
DR GO; GO:0020037; F:heme binding; IBA:GO_Central.
DR GO; GO:0031721; F:hemoglobin alpha binding; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0043177; F:organic acid binding; IBA:GO_Central.
DR GO; GO:0019825; F:oxygen binding; IBA:GO_Central.
DR GO; GO:0005344; F:oxygen carrier activity; IBA:GO_Central.
DR GO; GO:0015670; P:carbon dioxide transport; IC:ComplexPortal.
DR GO; GO:0098869; P:cellular oxidant detoxification; IEA:GOC.
DR GO; GO:0042744; P:hydrogen peroxide catabolic process; IBA:GO_Central.
DR GO; GO:0015671; P:oxygen transport; IDA:ComplexPortal.
DR GO; GO:0010942; P:positive regulation of cell death; IC:ComplexPortal.
DR CDD; cd08925; Hb-beta-like; 1.
DR Gene3D; 1.10.490.10; -; 1.
DR InterPro; IPR000971; Globin.
DR InterPro; IPR009050; Globin-like_sf.
DR InterPro; IPR012292; Globin/Proto.
DR InterPro; IPR002337; Hemoglobin_b.
DR Pfam; PF00042; Globin; 1.
DR PRINTS; PR00814; BETAHAEM.
DR SUPFAM; SSF46458; SSF46458; 1.
DR PROSITE; PS01033; GLOBIN; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Direct protein sequencing; Disease variant;
KW Heme; Iron; Metal-binding; Oxygen transport; Phosphoprotein;
KW Reference proteome; S-nitrosylation; Transport.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0000250|UniProtKB:P61920"
FT CHAIN 2..147
FT /note="Hemoglobin subunit gamma-1"
FT /id="PRO_0000053253"
FT BINDING 64
FT /ligand="heme b"
FT /ligand_id="ChEBI:CHEBI:60344"
FT /ligand_part="Fe"
FT /ligand_part_id="ChEBI:CHEBI:18248"
FT /note="distal binding residue"
FT /evidence="ECO:0000250|UniProtKB:P80044"
FT BINDING 93
FT /ligand="heme b"
FT /ligand_id="ChEBI:CHEBI:60344"
FT /ligand_part="Fe"
FT /ligand_part_id="ChEBI:CHEBI:18248"
FT /note="proximal binding residue"
FT /evidence="ECO:0000269|PubMed:11514664,
FT ECO:0007744|PDB:1I3D, ECO:0007744|PDB:1I3E"
FT MOD_RES 2
FT /note="N-acetylglycine; in form Hb F1"
FT /evidence="ECO:0000269|PubMed:5554303"
FT MOD_RES 13
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:P68871"
FT MOD_RES 45
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 51
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 53
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 60
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000250|UniProtKB:P68871"
FT MOD_RES 83
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000250|UniProtKB:P68871"
FT MOD_RES 94
FT /note="S-nitrosocysteine"
FT /evidence="ECO:0000250|UniProtKB:P68871"
FT MOD_RES 140
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VARIANT 3
FT /note="H -> Q (in Macedonia-I; dbSNP:rs35315638)"
FT /evidence="ECO:0000269|PubMed:7928382"
FT /id="VAR_003124"
FT VARIANT 6
FT /note="E -> K (in Texas-1; dbSNP:rs34427034)"
FT /evidence="ECO:0000269|PubMed:6019034"
FT /id="VAR_003125"
FT VARIANT 7
FT /note="E -> G (in Izumi/Kotobuki; dbSNP:rs34432567)"
FT /evidence="ECO:0000269|PubMed:6175602,
FT ECO:0000269|PubMed:6197997"
FT /id="VAR_003127"
FT VARIANT 7
FT /note="E -> Q (in Pordenone; dbSNP:rs33924825)"
FT /evidence="ECO:0000269|PubMed:6183236"
FT /id="VAR_003128"
FT VARIANT 13
FT /note="T -> R (in Calluna; dbSNP:rs33992775)"
FT /evidence="ECO:0000269|PubMed:6199326"
FT /id="VAR_003130"
FT VARIANT 23
FT /note="D -> G (in Kuala Lumpur; dbSNP:rs33970907)"
FT /evidence="ECO:0000269|PubMed:4765089"
FT /id="VAR_003135"
FT VARIANT 26
FT /note="G -> R (in Xinjiang; unstable; dbSNP:rs35957832)"
FT /evidence="ECO:0000269|PubMed:2448268"
FT /id="VAR_003138"
FT VARIANT 37
FT /note="P -> R (in Pendergrass; dbSNP:rs41404150)"
FT /evidence="ECO:0000269|PubMed:2581920"
FT /id="VAR_003141"
FT VARIANT 38
FT /note="W -> G (in Cobb; dbSNP:rs35700518)"
FT /evidence="ECO:0000269|PubMed:2419280"
FT /id="VAR_003142"
FT VARIANT 40
FT /note="Q -> R (in Bonaire; dbSNP:rs35977759)"
FT /evidence="ECO:0000269|PubMed:6186637"
FT /id="VAR_003143"
FT VARIANT 41
FT /note="R -> K (in Woodstock; dbSNP:rs33974602)"
FT /evidence="ECO:0000269|PubMed:1802881"
FT /id="VAR_003145"
FT VARIANT 44
FT /note="D -> N (in Fukuyama; dbSNP:rs41475844)"
FT /evidence="ECO:0000269|PubMed:2467893"
FT /id="VAR_003147"
FT VARIANT 54
FT /note="A -> D (in Beech island; dbSNP:rs35746147)"
FT /evidence="ECO:0000269|PubMed:2417989"
FT /id="VAR_003149"
FT VARIANT 62
FT /note="K -> E (in Jamaica; dbSNP:rs34747494)"
FT /evidence="ECO:0000269|PubMed:5491586"
FT /id="VAR_003153"
FT VARIANT 73
FT /note="G -> R (in Iwata; dbSNP:rs34049890)"
FT /evidence="ECO:0000269|PubMed:6163752"
FT /id="VAR_003158"
FT VARIANT 74
FT /note="D -> H (in Xin-su; dbSNP:rs33965337)"
FT /evidence="ECO:0000269|PubMed:2448269"
FT /id="VAR_003160"
FT VARIANT 74
FT /note="D -> N (in Forest Park; associated with T-76;
FT dbSNP:rs33965337)"
FT /id="VAR_003159"
FT VARIANT 76
FT /note="I -> T (in Sardinia/Forest Park; associated with N-
FT 74; dbSNP:rs1061234)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:808940"
FT /id="VAR_003161"
FT VARIANT 80
FT /note="D -> N (in Dammam; dbSNP:rs34435255)"
FT /evidence="ECO:0000269|PubMed:2411679"
FT /id="VAR_003163"
FT VARIANT 81
FT /note="D -> N (in Yamaguchi; dbSNP:rs33947112)"
FT /evidence="ECO:0000269|PubMed:6198905"
FT /id="VAR_003165"
FT VARIANT 81
FT /note="D -> Y (in Victoria jubilee; dbSNP:rs33947112)"
FT /evidence="ECO:0000269|PubMed:1138921"
FT /id="VAR_003164"
FT VARIANT 98
FT /note="H -> R (in Dickinson; dbSNP:rs34127117)"
FT /evidence="ECO:0000269|PubMed:4455303"
FT /id="VAR_003168"
FT VARIANT 122
FT /note="E -> K (in Siena/Hull; dbSNP:rs33963857)"
FT /evidence="ECO:0000269|PubMed:6038320,
FT ECO:0000269|PubMed:6188719"
FT /id="VAR_003173"
FT VARIANT 129
FT /note="A -> T (in Baskent; dbSNP:rs41330850)"
FT /evidence="ECO:0000269|PubMed:2454900"
FT /id="VAR_003175"
FT VARIANT 135
FT /note="V -> M (in Jiangsu; dbSNP:rs35849660)"
FT /evidence="ECO:0000269|PubMed:1703137"
FT /id="VAR_003177"
FT HELIX 6..17
FT /evidence="ECO:0007829|PDB:1I3D"
FT HELIX 21..35
FT /evidence="ECO:0007829|PDB:1I3D"
FT HELIX 37..46
FT /evidence="ECO:0007829|PDB:1I3D"
FT HELIX 52..57
FT /evidence="ECO:0007829|PDB:1I3D"
FT HELIX 59..75
FT /evidence="ECO:0007829|PDB:1I3D"
FT HELIX 76..81
FT /evidence="ECO:0007829|PDB:1I3D"
FT HELIX 82..85
FT /evidence="ECO:0007829|PDB:1I3D"
FT HELIX 87..94
FT /evidence="ECO:0007829|PDB:1I3D"
FT TURN 95..97
FT /evidence="ECO:0007829|PDB:1I3D"
FT HELIX 101..119
FT /evidence="ECO:0007829|PDB:1I3D"
FT HELIX 120..122
FT /evidence="ECO:0007829|PDB:1I3D"
FT HELIX 125..142
FT /evidence="ECO:0007829|PDB:1I3D"
FT HELIX 144..146
FT /evidence="ECO:0007829|PDB:1I3D"
SQ SEQUENCE 147 AA; 16140 MW; 8FCDC3DA1B416DDE CRC64;
MGHFTEEDKA TITSLWGKVN VEDAGGETLG RLLVVYPWTQ RFFDSFGNLS SASAIMGNPK
VKAHGKKVLT SLGDAIKHLD DLKGTFAQLS ELHCDKLHVD PENFKLLGNV LVTVLAIHFG
KEFTPEVQAS WQKMVTAVAS ALSSRYH
