HBG1

Hemoglobin, gamma A
PDB rendering based on 1fdh.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1fdh​, 1i3d​, 1i3e​
Identifiers
Symbols	HBG1 ; HBGA; HBGR; HSGGL1; PRO2979
External IDs	Template:OMIM5 Template:MGI HomoloGene: 73883
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Hemoglobin, gamma A, also known as HBG1, is a human gene.

The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'.

Further reading

• Huisman TH, Kutlar F, Gu LH (1992). "Gamma chain abnormalities and gamma-globin gene rearrangements in newborn babies of various populations". Hemoglobin. 15 (5): 349–79. PMID 1802881.CS1 maint: Multiple names: authors list (link)
• Gelinas R, Yagi M, Endlich B; et al. (1985). "Sequences of G gamma, A gamma, and beta genes of the Greek (A gamma) HPFH mutant: evidence for a distal CCAAT box mutation in the A gamma gene". Prog. Clin. Biol. Res. 191: 125–39. PMID 2413469.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Higgs DR, Vickers MA, Wilkie AO; et al. (1989). "A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081–104. PMID 2649166.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Giardina B, Messana I, Scatena R, Castagnola M (1995). "The multiple functions of hemoglobin". Crit. Rev. Biochem. Mol. Biol. 30 (3): 165–96. PMID 7555018.CS1 maint: Multiple names: authors list (link)
• Anderson NL, Anderson NG (2003). "The human plasma proteome: history, character, and diagnostic prospects". Mol. Cell Proteomics. 1 (11): 845–67. PMID 12488461.
• Chang JC, Kan YW (1979). "beta 0 thalassemia, a nonsense mutation in man". Proc. Natl. Acad. Sci. U.S.A. 76 (6): 2886–9. PMID 88735.
• Saglio G, Ricco G, Mazza U; et al. (1979). "Human T gamma globin chain is a variant of A gamma chain (A gamma Sardinia)". Proc. Natl. Acad. Sci. U.S.A. 76 (7): 3420–4. PMID 291015.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Poon R, Kan YW, Boyer HW (1979). "Sequence of the 3'-noncoding and adjacent coding regions of human gamma-globin mRNA". Nucleic Acids Res. 5 (12): 4625–30. PMID 318163.CS1 maint: Multiple names: authors list (link)
• Grifoni V, Kamuzora H, Lehmann H, Charlesworth D (1975). "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 (6): 347–55. PMID 808940.CS1 maint: Multiple names: authors list (link)
• Proudfoot NJ, Brownlee GG (1976). "3' non-coding region sequences in eukaryotic messenger RNA". Nature. 263 (5574): 211–4. PMID 822353.
• Marotta CA, Forget BG, Cohne-Solal M; et al. (1977). "Human beta-globin messenger RNA. I. Nucleotide sequences derived from complementary RNA". J. Biol. Chem. 252 (14): 5019–31. PMID 873928.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Frier JA, Perutz MF (1977). "Structure of human foetal deoxyhaemoglobin". J. Mol. Biol. 112 (1): 97–112. PMID 881729.
• Ahern E, Holder W, Ahern V; et al. (1975). "Haemoglobin F Victoria Jubilee (alpha 2 A gamma 2 80 Asp-Try)". Biochim. Biophys. Acta. 393 (1): 188–94. PMID 1138921.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Waye JS, Cai SP, Eng B; et al. (1993). "Clinical course and molecular characterization of a compound heterozygote for sickle hemoglobin and hemoglobin Kenya". Am. J. Hematol. 41 (4): 289–91. PMID 1283810.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bailey WJ, Hayasaka K, Skinner CG; et al. (1994). "Reexamination of the African hominoid trichotomy with additional sequences from the primate beta-globin gene cluster". Mol. Phylogenet. Evol. 1 (2): 97–135. PMID 1342932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gottardi E, Losekoot M, Fodde R; et al. (1992). "Rapid identification by denaturing gradient gel electrophoresis of mutations in the gamma-globin gene promoters in non-deletion type HPFH". Br. J. Haematol. 80 (4): 533–8. PMID 1374633.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Berry M, Grosveld F, Dillon N (1992). "A single point mutation is the cause of the Greek form of hereditary persistence of fetal haemoglobin". Nature. 358 (6386): 499–502. doi:10.1038/358499a0. PMID 1379347.CS1 maint: Multiple names: authors list (link)
• Loudianos G, Moi P, Lavinha J; et al. (1993). "Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemia". Hemoglobin. 16 (6): 503–9. PMID 1487421.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fucharoen S, Shimizu K, Fukumaki Y (1990). "A novel C-T transition within the distal CCAAT motif of the G gamma-globin gene in the Japanese HPFH: implication of factor binding in elevated fetal globin expression". Nucleic Acids Res. 18 (17): 5245–53. PMID 1698280.CS1 maint: Multiple names: authors list (link)
• Plaseska D, Kutlar F, Wilson JB; et al. (1991). "Hb F-Jiangsu, the first gamma chain variant with a valine----methionine substitution: alpha 2A gamma 2 134(H12)Val----Met". Hemoglobin. 14 (2): 177–83. PMID 1703137.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)