Reviewed,
UniProtKB/Swiss-Prot P69891 (HBG1_HUMAN)
Last modified
July 7, 2009.
Version 67.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Hemoglobin subunit gamma-1 Alternative name(s): Hemoglobin gamma-1 chain Gamma-1-globin Hemoglobin gamma-A chain Hb F Agamma | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Complete proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 147 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Gamma chains make up the fetal hemoglobin F, in combination with alpha chains. |
| Subunit structure | Heterotetramer of two alpha chains and two gamma chains in fetal hemoglobin (Hb F). In the case of deletions affecting one or more of the alpha chains the excess gamma chains form homotetramers that exhibit neither Bohr effect nor heme-heme cooperativity (hemoglobin Bart's). |
| Tissue specificity | Red blood cells. |
| Developmental stage | Expressed until four or five weeks after birth. |
| Post-translational modification | Acetylation of Gly-2 converts Hb F to the minor Hb F1. |
| Involvement in disease | Some gamma variants can cause severe jaundice and cyanosis in premature and new born babies. |
| Sequence similarities | Belongs to the globin family. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Oxygen transport Transport |
| Coding sequence diversity | Polymorphism |
| Disease | Disease mutation |
| Ligand | Heme Iron Metal-binding |
| PTM | Acetylation |
| Technical term | 3D-structure Complete proteome Direct protein sequencing |
| Gene Ontology (GO) | |
| Biological process | oxygen transport Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | hemoglobin complex Inferred from electronic annotation. Source: InterPro |
| Molecular function | heme binding Inferred from electronic annotation. Source: InterPro oxygen bindingInferred from electronic annotation. Source: InterPro oxygen transporter activityInferred from electronic annotation. Source: UniProtKB-KW protein bindingInferred from physical interaction. Source: IntAct |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||||||||||||||
Molecule processing | |||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed By similarity | ||||||||||||||||||||||||||||
| Chain | 2 – 147 | 146 | Hemoglobin subunit gamma-1 | PRO_0000053253 | |||||||||||||||||||||||||||
Sites | |||||||||||||||||||||||||||||||
| Metal binding | 64 | 1 | Iron (heme distal ligand) | ||||||||||||||||||||||||||||
| Metal binding | 93 | 1 | Iron (heme proximal ligand) | ||||||||||||||||||||||||||||
| Site | 142 | 1 | Susceptible to oxidation; in form M Probable | ||||||||||||||||||||||||||||
Amino acid modifications | |||||||||||||||||||||||||||||||
| Modified residue | 2 | 1 | N-acetylglycine; in form Hb F1 Ref.8 | ||||||||||||||||||||||||||||
Natural variations | |||||||||||||||||||||||||||||||
| Natural variant | 3 | 1 | H → Q in Macedonia-I. | VAR_003124 | |||||||||||||||||||||||||||
| Natural variant | 6 | 1 | E → K in Texas-1. | VAR_003125 | |||||||||||||||||||||||||||
| Natural variant | 7 | 1 | E → G in Izumi/Kotobuki. | VAR_003127 | |||||||||||||||||||||||||||
| Natural variant | 7 | 1 | E → Q in Pordenone. | VAR_003128 | |||||||||||||||||||||||||||
| Natural variant | 13 | 1 | T → R in Calluna. | VAR_003130 | |||||||||||||||||||||||||||
| Natural variant | 23 | 1 | D → G in Kuala Lumpur. | VAR_003135 | |||||||||||||||||||||||||||
| Natural variant | 26 | 1 | G → R in Xinjiang; unstable. | VAR_003138 | |||||||||||||||||||||||||||
| Natural variant | 37 | 1 | P → R in Pendergrass. | VAR_003141 | |||||||||||||||||||||||||||
| Natural variant | 38 | 1 | W → G in Cobb. | VAR_003142 | |||||||||||||||||||||||||||
| Natural variant | 40 | 1 | Q → R in Bonaire. | VAR_003143 | |||||||||||||||||||||||||||
| Natural variant | 41 | 1 | R → K in Woodstock. | VAR_003145 | |||||||||||||||||||||||||||
| Natural variant | 44 | 1 | D → N in Fukuyama. | VAR_003147 | |||||||||||||||||||||||||||
| Natural variant | 54 | 1 | A → D in Beech island. | VAR_003149 | |||||||||||||||||||||||||||
| Natural variant | 62 | 1 | K → E in Jamaica. | VAR_003153 | |||||||||||||||||||||||||||
| Natural variant | 73 | 1 | G → R in Iwata. | VAR_003158 | |||||||||||||||||||||||||||
| Natural variant | 74 | 1 | D → H in Xin-su. | VAR_003160 | |||||||||||||||||||||||||||
| Natural variant | 74 | 1 | D → N in Forest Park; associated with T-76. | VAR_003159 | |||||||||||||||||||||||||||
| Natural variant | 76 | 1 | I → T in Sardinia/Forest Park; associated with N-74. dbSNP rs1061234. | VAR_003161 | |||||||||||||||||||||||||||
| Natural variant | 80 | 1 | D → N in Dammam. | VAR_003163 | |||||||||||||||||||||||||||
| Natural variant | 81 | 1 | D → N in Yamaguchi. | VAR_003165 | |||||||||||||||||||||||||||
| Natural variant | 81 | 1 | D → Y in Victoria jubilee. | VAR_003164 | |||||||||||||||||||||||||||
| Natural variant | 98 | 1 | H → R in Dickinson. | VAR_003168 | |||||||||||||||||||||||||||
| Natural variant | 122 | 1 | E → K in Siena/Hull. | VAR_003173 | |||||||||||||||||||||||||||
| Natural variant | 129 | 1 | A → T in Baskent. | VAR_003175 | |||||||||||||||||||||||||||
| Natural variant | 135 | 1 | V → M in Jiangsu. | VAR_003177 | |||||||||||||||||||||||||||
Secondary structure | |||||||||||||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||||||||||||
| 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 | |||||||||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes." Slightom J.L., Blechl A.E., Smithies O. Cell 21:627-638(1980) [PubMed: 7438203] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [2] | "A history of the human fetal globin gene duplication." Shen S., Slightom J.L., Smithies O. Cell 26:191-203(1981) [PubMed: 7332928] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [3] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT THR-76. Tissue: Lung and Placenta. |
| [4] | Lubec G., Afjehi-Sadat L., Chen W.-Q., Sun Y. Submitted (DEC-2008) to UniProtKB Cited for: PROTEIN SEQUENCE OF 2-60; 67-77 AND 84-145, MASS SPECTROMETRY. Tissue: Brain, Cajal-Retzius cell and Fetal brain cortex. |
| [5] | "The M gamma chain of human fetal hemoglobin is an A gamma chain with an in vitro modification of gamma 141 leucine to hydroxyleucine." Wilson J.B., Brennan S.O., Allen J., Shaw J.G., Gu L.H., Huisman T.H. J. Chromatogr. A 617:37-42(1993) [PubMed: 7690768] [Abstract] Cited for: OXIDATION AT LEU-142. |
| [6] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| [7] | "Oligomerization and ligand binding in a homotetrameric hemoglobin: two high-resolution crystal structures of hemoglobin Bart's (gamma(4)), a marker for alpha-thalassemia." Kidd R.D., Baker H.M., Mathews A.J., Brittain T., Baker E.N. Protein Sci. 10:1739-1749(2001) [PubMed: 11514664] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF HOMOTETRAMER. |
| [8] | "Human fetal hemoglobin F 1. Acetylation status." Stegink L.D., Meyer P.D., Brummel M.C. J. Biol. Chem. 246:3001-3007(1971) [PubMed: 5554303] [Abstract] Cited for: ACETYLATION AT GLY-2. |
| [9] | "Hb F-Baskent or alpha 2A gamma 128(H6)Ala-->Thr." Altay C., Gurgey A., Wilson J.B., Hu H., Webber B.B., Kutlar F., Huisman T.H.J. Hemoglobin 12:87-89(1988) [PubMed: 2454900] [Abstract] Cited for: VARIANT BASKENT THR-129. |
| [10] | "Hb F-Beech Island or alpha 2A gamma 2(53)(D4)Ala-->Asp." Chen S.S., Wilson J.B., Webber B.B., Huisman T.H.J. Hemoglobin 9:525-529(1985) [PubMed: 2417989] [Abstract] Cited for: VARIANT BEECH ISLAND ASP-54. |
| [11] | "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." Nakatsuji T., Headlee M., Lam H., Wilson J.B., Huisman T.H.J. Hemoglobin 6:599-606(1982) [PubMed: 6186637] [Abstract] Cited for: VARIANT BONAIRE ARG-40. |
| [12] | "Hb F-Calluna or alpha 2 gamma 2(12 Thr replaced by Arg; 75Ile; 136Ala) in a Caucasian baby." Nakatsuji T., Lam H., Huisman T.H.J. Hemoglobin 7:563-566(1983) [PubMed: 6199326] [Abstract] Cited for: VARIANT CALLUNA ARG-13. |
| [13] | "Hb F-Cobb or alpha(2)A gamma(2)37(C3)Trp-->Gly." Chen S.S., Webber B.B., Kutlar A., Wilson J.B., Huisman T.H.J. Hemoglobin 9:617-619(1985) [PubMed: 2419280] [Abstract] Cited for: VARIANT COBB GLY-38. |
| [14] | "Hb F-Dammam or alpha 2A gamma 2(79) (EF3) Asp-->Asn." Al-Awamy B.H., Niazi G.A., Al-Mouzan M.I., Wilson J.B., Chen S.S., Webber B.B., Huisman T.H.J. Hemoglobin 9:171-173(1985) [PubMed: 2411679] [Abstract] Cited for: VARIANT DAMMAM ASN-80. |
| [15] | "Genetic haemoglobin abnormalities in about 9000 Black and 7000 White newborns; haemoglobin F Dickinson (Agamma97His-Arg), a new variant." Schneider R.G., Haggard M.E., Gustavson L.P., Brimhall B., Jones R.T. Br. J. Haematol. 28:515-524(1974) [PubMed: 4455303] [Abstract] Cited for: VARIANT DICKINSON ARG-98. |
| [16] | "Hb F-Fukuyama or A gamma T43(CD2)Asp-->Asn." Hidaka K., Iuchi I., Nakahara H., Iwakawa G. Hemoglobin 13:93-96(1989) [PubMed: 2467893] [Abstract] Cited for: VARIANT FUKUYAMA ASN-44. |
| [17] | "Haemoglobin F Hull (gamma-121 glutamic acid-->lysine), homologous with haemoglobins O Arab and O Indonesia." Sacker L.S., Beale D., Black A.J., Huntsman R.G., Lehmann H., Lorkin P.A. BMJ 3:531-533(1967) [PubMed: 6038320] [Abstract] Cited for: VARIANT HULL LYS-122. |
| [18] | "Survey of cord blood hemoglobin in Japan and identification of two new gamma chain variants." Fuyuno K., Torigoe T., Ohba Y., Matsuoka M., Miyaji T. Hemoglobin 5:139-151(1981) [PubMed: 6163752] [Abstract] Cited for: VARIANT IWATA ARG-73. |
| [19] | "Characterization of a new fetal hemoglobin variant, Hb F Izumi A gamma 6Glu replaced by Gly, by molecular secondary ion mass spectrometry." Wada Y., Hayashi A., Masanori F., Katakuse I., Ichihara T., Nakabushi H., Matsuo T., Sakurai T., Matsuda H. Biochim. Biophys. Acta 749:244-248(1983) [PubMed: 6197997] [Abstract] Cited for: VARIANT IZUMI GLY-7. |
| [20] | "Haemoglobin F Jamaica (alpha-2 gamma-2 61 Lys leads to Glu; 136 Ala)." Ahern E.J., Jones R.T., Brimhall B., Gray R.H. Br. J. Haematol. 18:369-375(1970) [PubMed: 5491586] [Abstract] Cited for: VARIANT JAMAICA GLU-62. |
| [21] | "Hb F-Jiangsu, the first gamma chain variant with a valine->methionine substitution: alpha 2A gamma 2 134(H12)Val->Met." Plaseska D., Kutlar F., Wilson J.B., Webber B.B., Zeng Y.-T., Huisman T.H.J. Hemoglobin 14:177-183(1990) [PubMed: 1703137] [Abstract] Cited for: VARIANT JIANGSU MET-135. |
| [22] | "A new gamma chain variant, HB F Kotobuki or AI gamma 6 (A3) Glu leads to Gly." Yoshinaka H., Ohba Y., Hattori Y., Matsuoka M., Miyaji T., Fuyuno K. Hemoglobin 6:37-42(1982) [PubMed: 6175602] [Abstract] Cited for: VARIANT KOTOBUKI GLY-7. |
| [23] | "Structural identification of haemoglobin F Kuala Lumpur: alpha2 gamma2 22(B4)Asp leads to Gly; 136 Ala." Lie-Injo L.E., Wiltshire B.B., Lehmann H. Biochim. Biophys. Acta 322:224-230(1973) [PubMed: 4765089] [Abstract] Cited for: VARIANT KUALA LUMPUR GLY-23. |
| [24] | "Hb F-Macedonia-I or alpha 2A gamma (2)2(NA2)His-->Gln." Plaseska D., Cepreganova-Krstik B., Momirovska A., Efremov G.D. Hemoglobin 18:241-245(1994) [PubMed: 7928382] [Abstract] Cited for: VARIANT MACEDONIA-I GLN-3. |
| [25] | "Hb F-Pendergrass, an A gamma I variant with a Pro-->Arg substitution at position gamma 36(C2)." Chen S.S., Wilson J.B., Huisman T.H.J. Hemoglobin 9:73-77(1985) [PubMed: 2581920] [Abstract] Cited for: VARIANT PENDERGRASS ARG-37. |
| [26] | "A new gamma chain variant: Hb F-Pordenone [gamma 6(A3) Glu replaced by Gln: 75ILE: 136ALA]." Nakatsuji T., Webber B., Lam H., Wilson J.B., Huisman T.H.J., Sciarratta G.V., Sansone G., Molaro G.L. Hemoglobin 6:397-401(1982) [PubMed: 6183236] [Abstract] Cited for: VARIANT PORDENONE GLN-7. |
| [27] | "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." Grifone V., Kamuzora H., Lehmann H., Charlesworth D. Acta Haematol. 53:347-355(1975) [PubMed: 808940] [Abstract] Cited for: VARIANT SARDINIA THR-76. |
| [28] | "Hb F-Siena (alpha 2 a gamma t2 121 (GH4) Glu leads to Lys). A new fetal hemoglobin variant." Care A., Marinucci M., Massa A., Maffi D., Sposi N.M., Improta T., Tentori L. Hemoglobin 7:79-83(1983) [PubMed: 6188719] [Abstract] Cited for: VARIANT SIENA LYS-122. |
| [29] | "Haemoglobin F Texas I(alpha-2,gamma-2-5glu-lys): a variant of haemoglobin F." Jenkins G.C., Beale D., Black A.J., Huntsman R.G., Lehmann H. Br. J. Haematol. 13:252-255(1967) [PubMed: 6019034] [Abstract] Cited for: VARIANT TEXAS-1 LYS-6. |
| [30] | "Haemoglobin F Victoria Jubilee (alpha 2 A gamma 2 80 Asp-Try)." Ahern E., Holder W., Ahern V., Serjeant G.R., Serjeant B., Forbes M., Brimhall B., Jones R.T. Biochim. Biophys. Acta 393:188-194(1975) [PubMed: 1138921] [Abstract] Cited for: VARIANT VICTORIA JUBILEE TYR-81. |
| [31] | "Gamma chain abnormalities and gamma-globin gene rearrangements in newborn babies of various populations." Huisman T.H.J., Kutlar F., Gu L.H. Hemoglobin 15:349-379(1991) [PubMed: 1802881] [Abstract] Cited for: VARIANT WOODSTOCK LYS-41. |
| [32] | "Hb F-Xin-Su or A gamma I73(E17)Asp-->His: a new slow-moving fetal hemoglobin variant." Ma M., Hu H., Kutlar F., Wilson J.B., Huisman T.H.J. Hemoglobin 11:473-479(1987) [PubMed: 2448269] [Abstract] Cited for: VARIANT XIN-SU HIS-74. |
| [33] | "Hb F-Xinjiang or A gamma T25(B7)Gly-->Arg: a new slow-moving unstable fetal hemoglobin variant." Hu H., Ma M. Hemoglobin 11:465-472(1987) [PubMed: 2448268] [Abstract] Cited for: VARIANT XINJIANG ARG-26. |
| [34] | "HB F-Yamaguchi (gamma 75Thr, gamma 80Asn, gamma 136Ala) is associated with G gamma-thalassemia." Nakatsuji T., Ohba Y., Huisman T.H.J. Am. J. Hematol. 16:189-192(1984) [PubMed: 6198905] [Abstract] Cited for: VARIANT YAMAGUCHI ASN-81. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M91036 Genomic DNA. Translation: AAB59429.1. M91037 Genomic DNA. Translation: AAA58493.1. V00513 Genomic DNA. Translation: CAA23771.1. V00514 Genomic DNA. Translation: CAA23772.1. J00176 Genomic DNA. Translation: AAA52637.1. U01317 Genomic DNA. Translation: AAA16332.1. BC010913 mRNA. Translation: AAH10913.1. BC020719 mRNA. Translation: AAH20719.1. | |||||||||||||||||||
| IPI | IPI00220706. | ||||||||||||||||||
| PIR | HGHUA. A90803. | ||||||||||||||||||
| UniGene | Hs.712539 | ||||||||||||||||||
3D structure databases | |||||||||||||||||||
| |||||||||||||||||||
| ModBase | Search... | ||||||||||||||||||
Protein-protein interaction databases | |||||||||||||||||||
| IntAct | P69891. 1 interaction. | ||||||||||||||||||
PTM databases | |||||||||||||||||||
| PhosphoSite | P69891. | ||||||||||||||||||
Proteomic databases | |||||||||||||||||||
| PRIDE | P69891. | ||||||||||||||||||
Genome annotation databases | |||||||||||||||||||
| Ensembl | ENSG00000196565. Homo sapiens. [Contig view] | ||||||||||||||||||
| UCSC | uc001mai.1. human. | ||||||||||||||||||
Organism-specific databases | |||||||||||||||||||
| GeneCards | GC11M005226. | ||||||||||||||||||
| HGNC | HGNC:4831. HBG1. | ||||||||||||||||||
| MIM | 142200. gene. | ||||||||||||||||||
| PharmGKB | PA29206. | ||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||
| HOVERGEN | P69891. | ||||||||||||||||||
Gene expression databases | |||||||||||||||||||
| ArrayExpress | P69891. | ||||||||||||||||||
| CleanEx | HS_HBG1. | ||||||||||||||||||
| GermOnline | ENSG00000196565. Homo sapiens. | ||||||||||||||||||
Family and domain databases | |||||||||||||||||||
| InterPro | IPR012292. Globin. IPR000971. Globin_subset. IPR002337. Haemoglobin_b. [Graphical view] | ||||||||||||||||||
| Gene3D | G3DSA:1.10.490.10. Globin_related. 1 hit. | ||||||||||||||||||
| PANTHER | PTHR11442:SF7. Beta_haem. 1 hit. | ||||||||||||||||||
| Pfam | PF00042. Globin. 1 hit. [Graphical view] | ||||||||||||||||||
| PRINTS | PR00814. BETAHAEM. | ||||||||||||||||||
| PROSITE | PS01033. GLOBIN. 1 hit. [Graphical view] | ||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||
Other Resources | |||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||
Entry information
| Entry name | HBG1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P69891 Secondary accession number(s): P02096, P62027, Q96FH7 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 11 Human chromosome 11: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with


