ExPASy logo ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot
Notice: This page will be replaced with www.uniprot.org. Please send us your feedback!
Search for

UniProtKB/Swiss-Prot entry P69891


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents.
Entry information
Entry name HBG1_HUMAN
Primary accession number P69891
Secondary accession numbers P02096 P62027 Q96FH7
Integrated into Swiss-Prot on July 21, 1986
Sequence was last modified on January 23, 2007 (Sequence version 2)
Annotations were last modified on    July 22, 2008 (Entry version 57)
Name and origin of the protein
Protein name Hemoglobin subunit gamma-1
Synonyms Hemoglobin gamma-1 chain
Gamma-1-globin
Hemoglobin gamma-A chain
Hb F Agamma
Gene name
Name: HBG1
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1016/0092-8674(80)90426-2; PubMed=7438203 [NCBI, ExPASy, EBI, Israel, Japan]
Slightom J.L., Blechl A.E., Smithies O.;
"Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes.";
Cell 21:627-638(1980).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1016/0092-8674(81)90302-0; PubMed=7332928 [NCBI, ExPASy, EBI, Israel, Japan]
Shen S., Slightom J.L., Smithies O.;
"A history of the human fetal globin gene duplication.";
Cell 26:191-203(1981).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT THR-76.
TISSUE=Lung, and Placenta;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[4]
PROTEIN SEQUENCE OF 32-60 AND 106-121, AND MASS SPECTROMETRY.
TISSUE=Brain, and Cajal-Retzius cell;
Lubec G., Afjehi-Sadat L.;
Submitted (MAR-2007) to UniProtKB.
[5]
OXIDATION AT LEU-142.
PubMed=7690768 [NCBI, ExPASy, EBI, Israel, Japan]
Wilson J.B., Brennan S.O., Allen J., Shaw J.G., Gu L.H., Huisman T.H.;
"The M gamma chain of human fetal hemoglobin is an A gamma chain with an in vitro modification of gamma 141 leucine to hydroxyleucine.";
J. Chromatogr. A 617:37-42(1993).
[6]
X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF HOMOTETRAMER.
DOI=10.1110/ps.11701; PubMed=11514664 [NCBI, ExPASy, EBI, Israel, Japan]
Kidd R.D., Baker H.M., Mathews A.J., Brittain T., Baker E.N.;
"Oligomerization and ligand binding in a homotetrameric hemoglobin: two high-resolution crystal structures of hemoglobin Bart's (gamma(4)), a marker for alpha-thalassemia.";
Protein Sci. 10:1739-1749(2001).
[7]
ACETYLATION AT GLY-2.
PubMed=5554303 [NCBI, ExPASy, EBI, Israel, Japan]
Stegink L.D., Meyer P.D., Brummel M.C.;
"Human fetal hemoglobin F 1. Acetylation status.";
J. Biol. Chem. 246:3001-3007(1971).
[8]
VARIANT BASKENT THR-129.
PubMed=2454900 [NCBI, ExPASy, EBI, Israel, Japan]
Altay C., Gurgey A., Wilson J.B., Hu H., Webber B.B., Kutlar F., Huisman T.H.J.;
"Hb F-Baskent or alpha 2A gamma 128(H6)Ala-->Thr.";
Hemoglobin 12:87-89(1988).
[9]
VARIANT BEECH ISLAND ASP-54.
PubMed=2417989 [NCBI, ExPASy, EBI, Israel, Japan]
Chen S.S., Wilson J.B., Webber B.B., Huisman T.H.J.;
"Hb F-Beech Island or alpha 2A gamma 2(53)(D4)Ala-->Asp.";
Hemoglobin 9:525-529(1985).
[10]
VARIANT BONAIRE ARG-40.
PubMed=6186637 [NCBI, ExPASy, EBI, Israel, Japan]
Nakatsuji T., Headlee M., Lam H., Wilson J.B., Huisman T.H.J.;
"Hb F-Bonaire-Ga or alpha 2 A gamma 2 39(C5) Gln replaced by Arg, characterized by high pressure liquid chromatographic and microsequencing procedures.";
Hemoglobin 6:599-606(1982).
[11]
VARIANT CALLUNA ARG-13.
PubMed=6199326 [NCBI, ExPASy, EBI, Israel, Japan]
Nakatsuji T., Lam H., Huisman T.H.J.;
"Hb F-Calluna or alpha 2 gamma 2(12 Thr replaced by Arg; 75Ile; 136Ala) in a Caucasian baby.";
Hemoglobin 7:563-566(1983).
[12]
VARIANT COBB GLY-38.
PubMed=2419280 [NCBI, ExPASy, EBI, Israel, Japan]
Chen S.S., Webber B.B., Kutlar A., Wilson J.B., Huisman T.H.J.;
"Hb F-Cobb or alpha(2)A gamma(2)37(C3)Trp-->Gly.";
Hemoglobin 9:617-619(1985).
[13]
VARIANT DAMMAM ASN-80.
PubMed=2411679 [NCBI, ExPASy, EBI, Israel, Japan]
Al-Awamy B.H., Niazi G.A., Al-Mouzan M.I., Wilson J.B., Chen S.S., Webber B.B., Huisman T.H.J.;
"Hb F-Dammam or alpha 2A gamma 2(79) (EF3) Asp-->Asn.";
Hemoglobin 9:171-173(1985).
[14]
VARIANT DICKINSON ARG-98.
PubMed=4455303 [NCBI, ExPASy, EBI, Israel, Japan]
Schneider R.G., Haggard M.E., Gustavson L.P., Brimhall B., Jones R.T.;
"Genetic haemoglobin abnormalities in about 9000 Black and 7000 White newborns; haemoglobin F Dickinson (Agamma97His-Arg), a new variant.";
Br. J. Haematol. 28:515-524(1974).
[15]
VARIANT FUKUYAMA ASN-44.
PubMed=2467893 [NCBI, ExPASy, EBI, Israel, Japan]
Hidaka K., Iuchi I., Nakahara H., Iwakawa G.;
"Hb F-Fukuyama or A gamma T43(CD2)Asp-->Asn.";
Hemoglobin 13:93-96(1989).
[16]
VARIANT HULL LYS-122.
PubMed=6038320 [NCBI, ExPASy, EBI, Israel, Japan]
Sacker L.S., Beale D., Black A.J., Huntsman R.G., Lehmann H., Lorkin P.A.;
"Haemoglobin F Hull (gamma-121 glutamic acid-->lysine), homologous with haemoglobins O Arab and O Indonesia.";
BMJ 3:531-533(1967).
[17]
VARIANT IWATA ARG-73.
PubMed=6163752 [NCBI, ExPASy, EBI, Israel, Japan]
Fuyuno K., Torigoe T., Ohba Y., Matsuoka M., Miyaji T.;
"Survey of cord blood hemoglobin in Japan and identification of two new gamma chain variants.";
Hemoglobin 5:139-151(1981).
[18]
VARIANT IZUMI GLY-7.
DOI=10.1016/0167-4838(83)90231-5; PubMed=6197997 [NCBI, ExPASy, EBI, Israel, Japan]
Wada Y., Hayashi A., Masanori F., Katakuse I., Ichihara T., Nakabushi H., Matsuo T., Sakurai T., Matsuda H.;
"Characterization of a new fetal hemoglobin variant, Hb F Izumi A gamma 6Glu replaced by Gly, by molecular secondary ion mass spectrometry.";
Biochim. Biophys. Acta 749:244-248(1983).
[19]
VARIANT JAMAICA GLU-62.
PubMed=5491586 [NCBI, ExPASy, EBI, Israel, Japan]
Ahern E.J., Jones R.T., Brimhall B., Gray R.H.;
"Haemoglobin F Jamaica (alpha-2 gamma-2 61 Lys leads to Glu; 136 Ala).";
Br. J. Haematol. 18:369-375(1970).
[20]
VARIANT JIANGSU MET-135.
PubMed=1703137 [NCBI, ExPASy, EBI, Israel, Japan]
Plaseska D., Kutlar F., Wilson J.B., Webber B.B., Zeng Y.-T., Huisman T.H.J.;
"Hb F-Jiangsu, the first gamma chain variant with a valine->methionine substitution: alpha 2A gamma 2 134(H12)Val->Met.";
Hemoglobin 14:177-183(1990).
[21]
VARIANT KOTOBUKI GLY-7.
PubMed=6175602 [NCBI, ExPASy, EBI, Israel, Japan]
Yoshinaka H., Ohba Y., Hattori Y., Matsuoka M., Miyaji T., Fuyuno K.;
"A new gamma chain variant, HB F Kotobuki or AI gamma 6 (A3) Glu leads to Gly.";
Hemoglobin 6:37-42(1982).
[22]
VARIANT KUALA LUMPUR GLY-23.
PubMed=4765089 [NCBI, ExPASy, EBI, Israel, Japan]
Lie-Injo L.E., Wiltshire B.B., Lehmann H.;
"Structural identification of haemoglobin F Kuala Lumpur: alpha2 gamma2 22(B4)Asp leads to Gly; 136 Ala.";
Biochim. Biophys. Acta 322:224-230(1973).
[23]
VARIANT MACEDONIA-I GLN-3.
PubMed=7928382 [NCBI, ExPASy, EBI, Israel, Japan]
Plaseska D., Cepreganova-Krstik B., Momirovska A., Efremov G.D.;
"Hb F-Macedonia-I or alpha 2A gamma (2)2(NA2)His-->Gln.";
Hemoglobin 18:241-245(1994).
[24]
VARIANT PENDERGRASS ARG-37.
PubMed=2581920 [NCBI, ExPASy, EBI, Israel, Japan]
Chen S.S., Wilson J.B., Huisman T.H.J.;
"Hb F-Pendergrass, an A gamma I variant with a Pro-->Arg substitution at position gamma 36(C2).";
Hemoglobin 9:73-77(1985).
[25]
VARIANT PORDENONE GLN-7.
PubMed=6183236 [NCBI, ExPASy, EBI, Israel, Japan]
Nakatsuji T., Webber B., Lam H., Wilson J.B., Huisman T.H.J., Sciarratta G.V., Sansone G., Molaro G.L.;
"A new gamma chain variant: Hb F-Pordenone [gamma 6(A3) Glu replaced by Gln: 75ILE: 136ALA].";
Hemoglobin 6:397-401(1982).
[26]
VARIANT SARDINIA THR-76.
PubMed=808940 [NCBI, ExPASy, EBI, Israel, Japan]
Grifone V., Kamuzora H., Lehmann H., Charlesworth D.;
"A new Hb variant: Hb F Sardinia gamma75(E19) isoleucine leads to threonine found in a family with Hb G Philadelphia, beta-chain deficiency and a Lepore-like haemoglobin indistinguishable from Hb A2.";
Acta Haematol. 53:347-355(1975).
[27]
VARIANT SIENA LYS-122.
PubMed=6188719 [NCBI, ExPASy, EBI, Israel, Japan]
Care A., Marinucci M., Massa A., Maffi D., Sposi N.M., Improta T., Tentori L.;
"Hb F-Siena (alpha 2 a gamma t2 121 (GH4) Glu leads to Lys). A new fetal hemoglobin variant.";
Hemoglobin 7:79-83(1983).
[28]
VARIANT TEXAS-1 LYS-6.
PubMed=6019034 [NCBI, ExPASy, EBI, Israel, Japan]
Jenkins G.C., Beale D., Black A.J., Huntsman R.G., Lehmann H.;
"Haemoglobin F Texas I(alpha-2,gamma-2-5glu-lys): a variant of haemoglobin F.";
Br. J. Haematol. 13:252-255(1967).
[29]
VARIANT VICTORIA JUBILEE TYR-81.
PubMed=1138921 [NCBI, ExPASy, EBI, Israel, Japan]
Ahern E., Holder W., Ahern V., Serjeant G.R., Serjeant B., Forbes M., Brimhall B., Jones R.T.;
"Haemoglobin F Victoria Jubilee (alpha 2 A gamma 2 80 Asp-Try).";
Biochim. Biophys. Acta 393:188-194(1975).
[30]
VARIANT WOODSTOCK LYS-41.
PubMed=1802881 [NCBI, ExPASy, EBI, Israel, Japan]
Huisman T.H.J., Kutlar F., Gu L.H.;
"Gamma chain abnormalities and gamma-globin gene rearrangements in newborn babies of various populations.";
Hemoglobin 15:349-379(1991).
[31]
VARIANT XIN-SU HIS-74.
PubMed=2448269 [NCBI, ExPASy, EBI, Israel, Japan]
Ma M., Hu H., Kutlar F., Wilson J.B., Huisman T.H.J.;
"Hb F-Xin-Su or A gamma I73(E17)Asp-->His: a new slow-moving fetal hemoglobin variant.";
Hemoglobin 11:473-479(1987).
[32]
VARIANT XINJIANG ARG-26.
PubMed=2448268 [NCBI, ExPASy, EBI, Israel, Japan]
Hu H., Ma M.;
"Hb F-Xinjiang or A gamma T25(B7)Gly-->Arg: a new slow-moving unstable fetal hemoglobin variant.";
Hemoglobin 11:465-472(1987).
[33]
VARIANT YAMAGUCHI ASN-81.
PubMed=6198905 [NCBI, ExPASy, EBI, Israel, Japan]
Nakatsuji T., Ohba Y., Huisman T.H.J.;
"HB F-Yamaguchi (gamma 75Thr, gamma 80Asn, gamma 136Ala) is associated with G gamma-thalassemia.";
Am. J. Hematol. 16:189-192(1984).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
M91036; AAB59429.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
M91037; AAA58493.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
V00513; CAA23771.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
V00514; CAA23772.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
J00176; AAA52637.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U01317; AAA16332.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC010913; AAH10913.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC020719; AAH20719.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
PIR A90803; HGHUA.
UniGene Hs.705371
3D structure databases
PDB
1I3D; X-ray; 1.70 A; A/B=1-147.[ExPASy / RCSB / EBI]
1I3E; X-ray; 1.86 A; A/B=1-147.[ExPASy / RCSB / EBI]
Detailed list of linked structures.
PDBsum 1I3D; -.
1I3E; -.
ModBase P69891.
Protein-protein interaction databases
IntAct P69891; -.
PTM databases
PhosphoSite P69891; -.
Organism-specific databases
HGNC HGNC:4831; HBG1.
GenAtlas HBG1.
MIM 142200; gene. [NCBI / EBI]
PharmGKB PA29206; -.
GeneCards P69891.
Gene expression databases
ArrayExpress P69891; -.
CleanEx HS_HBG1; -.
GermOnline ENSG00000196565; Homo sapiens.
Ontologies
GO
GO:0005515; Molecular function: protein binding (inferred from physical interaction from IntAct).
QuickGo view.
Family and domain databases
InterPro IPR012292; Globin.
IPR000971; Globin_subset.
IPR002337; Haemoglobin_b.
Graphical view of domain structure.
Gene3D G3DSA:1.10.490.10; Globin_related; 1.
PANTHER PTHR11442:SF7; Beta_haem; 1.
Pfam PF00042; Globin; 1.
Pfam graphical view of domain structure.
PRINTS PR00814; BETAHAEM.
PROSITE PS01033; GLOBIN; 1.
PROSITE graphical view of domain structure (profiles).
BLOCKS P69891.
Genome annotation databases
Ensembl ENSG00000196565; Homo sapiens. [Contig view]
Phylogenomic databases
HOVERGEN P69891; -.
Other
LinkHub P69891; -.
SOURCE HBG1; Homo sapiens.
ProtoNet P69891.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
3D-structure; Acetylation; Direct protein sequencing; Disease mutation; Heme; Iron; Metal-binding; Oxygen transport; Polymorphism; Transport.
Features
SEVIEWER logo Feature table viewer
KeyFrom   To Length Description FTId
INIT_MET   1     1        Removed (By similarity). 
CHAIN   2   147  146     Hemoglobin subunit gamma-1. PRO_0000053253
METAL   64    64        Iron (heme distal ligand). 
METAL   93    93        Iron (heme proximal ligand). 
SITE   142   142  1     Susceptible to oxidation; in form M (Probable). 
MOD_RES   2     2        N-acetylglycine; in form Hb F1. 
VARIANT   3     3  1     H -> Q (in Macedonia-I). VAR_003124 [3D]
VARIANT   6     6  1     E -> K (in Texas-1). VAR_003125 [3D]
VARIANT   7     7  1     E -> G (in Izumi/Kotobuki). VAR_003127 [3D]
VARIANT   7     7  1     E -> Q (in Pordenone). VAR_003128 [3D]
VARIANT   13    13  1     T -> R (in Calluna). VAR_003130 [3D]
VARIANT   23    23  1     D -> G (in Kuala Lumpur). VAR_003135 [3D]
VARIANT   26    26  1     G -> R (in Xinjiang; unstable). VAR_003138 [3D]
VARIANT   37    37  1     P -> R (in Pendergrass). VAR_003141 [3D]
VARIANT   38    38  1     W -> G (in Cobb). VAR_003142 [3D]
VARIANT   40    40  1     Q -> R (in Bonaire). VAR_003143 [3D]
VARIANT   41    41  1     R -> K (in Woodstock). VAR_003145 [3D]
VARIANT   44    44  1     D -> N (in Fukuyama). VAR_003147 [3D]
VARIANT   54    54  1     A -> D (in Beech island). VAR_003149 [3D]
VARIANT   62    62  1     K -> E (in Jamaica). VAR_003153 [3D]
VARIANT   73    73  1     G -> R (in Iwata). VAR_003158 [3D]
VARIANT   74    74  1     D -> H (in Xin-su). VAR_003160 [3D]
VARIANT   74    74  1     D -> N (in Forest Park; associated with T-76). VAR_003159 [3D]
VARIANT   76    76  1     I -> T (in Sardinia/Forest Park; associated with N-74; dbSNP:rs1061234 [NCBI]). VAR_003161 [3D]
VARIANT   80    80  1     D -> N (in Dammam). VAR_003163 [3D]
VARIANT   81    81  1     D -> N (in Yamaguchi). VAR_003165 [3D]
VARIANT   81    81  1     D -> Y (in Victoria jubilee). VAR_003164 [3D]
VARIANT   98    98  1     H -> R (in Dickinson). VAR_003168 [3D]
VARIANT   122   122  1     E -> K (in Siena/Hull). VAR_003173 [3D]
VARIANT   129   129  1     A -> T (in Baskent). VAR_003175 [3D]
VARIANT   135   135  1     V -> M (in Jiangsu). VAR_003177 [3D]
HELIX   6    17  12      
HELIX   21    35  15      
HELIX   37    46  10      
HELIX   52    57  6      
HELIX   59    75  17      
HELIX   76    81  6      
HELIX   82    85  4      
HELIX   87    94  8      
TURN   95    97  3      
HELIX   101   119  19      
HELIX   120   122  3      
HELIX   125   142  18      
HELIX   144   146  3      
Sequence information
Length: 147 AA [This is the length of the unprocessed precursor] Molecular weight: 16140 Da [This is the MW of the unprocessed precursor] CRC64: 8FCDC3DA1B416DDE [This is a checksum on the sequence]
        10         20         30         40         50         60 
MGHFTEEDKA TITSLWGKVN VEDAGGETLG RLLVVYPWTQ RFFDSFGNLS SASAIMGNPK 

        70         80         90        100        110        120 
VKAHGKKVLT SLGDAIKHLD DLKGTFAQLS ELHCDKLHVD PENFKLLGNV LVTVLAIHFG 

       130        140 
KEFTPEVQAS WQKMVTAVAS ALSSRYH 

P69891 in FASTA format

View entry in original UniProtKB/Swiss-Prot format
View entry in raw text format (no links)
Report form for errors/updates in this UniProtKB/Swiss-Prot entry

BLAST logo BLAST submission on ExPASy/SIB
or at NCBI (USA)
Tools Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
PROSITE logo ScanProsite, MotifScan SWISS-MODEL Submit a homology modeling request to SWISS-MODEL
NPSA logo NPSA Sequence analysis tools

ExPASy logo ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot
 Hosted by ca flag CBR Canada Mirror sites: Australia  Brazil  China  Korea  Switzerland
Notice: This page will be replaced with www.uniprot.org. Please send us your feedback!