HBG1

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HBG1
HBG1
Structure of the HBG1 protein
Identifier
Gene name (s) HBG1; HBGA; HBGR; HSGGL1
External IDs

The subunit hemoglobin gamma-1 is a protein encoded by the HBG1 gene present in humans.

function

The gammaglobin genes (HBG1 and HBG2) are usually expressed in the fetal liver , spleen, and bone marrow . Two gamma chains together with two alpha chains form fetal hemoglobin ( HbF ), which is normally replaced by adult hemoglobin ( HbA ) at birth . With some beta thalassemia and the associated conditions, the production of gamma chains continues into adulthood. The two types of gamma chains differ at residue 136, where glycine is found in G-gamma production (HBG2) and alanine in A-gamma production (HBG1) . The former is predominant at birth . The order of the genes in the beta-globin cluster is: 5 '- ε - γ-G - γ-A - δ - β - 3'.

Individual evidence

  1. ↑ Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ: A review of the molecular genetics of the human alpha-globin gene cluster . In: Blood . 73, No. 5, May 1989, pp. 1081-104. PMID 2649166 .
  2. ↑ Entrez: hbg1 hemoglobin, gamma A . Retrieved May 19, 2012.

literature

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  • Gelinas R, Yagi M, Finally B, et al. : 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. . In: Prog. Clin. Biol. Res . 191, 1985, pp. 125-39. PMID 2413469 .
  • Giardina B, Messana I, Scatena R, Castagnola M: The multiple functions of hemoglobin. . In: Crit. Rev. Biochem. Mol. Biol . 30, No. 3, 1995, pp. 165-96. doi : 10.3109 / 10409239509085142 . PMID 7555018 .
  • Anderson NL, Anderson NG: The human plasma proteome: history, character, and diagnostic prospects. . In: Mol. Cell Proteomics . 1, No. 11, 2003, pp. 845-67. doi : 10.1074 / mcp.R200007-MCP200 . PMID 12488461 .
  • Chang JC, Kan YW: beta 0 thalassemia, a nonsense mutation in man . In: Proc. Natl. Acad. Sci. USA . 76, No. 6, 1979, pp. 2886-9. doi : 10.1073 / pnas.76.6.2886 . PMID 88735 . PMC 383714 (free full text).
  • Saglio G, Ricco G, Mazza U, et al. : Human T gamma globin chain is a variant of A gamma chain (A gamma Sardinia) . In: Proc. Natl. Acad. Sci. USA . 76, No. 7, 1979, pp. 3420-4. doi : 10.1073 / pnas.76.7.3420 . PMID 291015 . PMC 383837 (free full text).
  • Poon R, Kan YW, Boyer HW: Sequence of the 3'-noncoding and adjacent coding regions of human gamma-globin mRNA . In: Nucleic Acids Res . . 5, No. 12, 1979, pp. 4625-30. PMID 318163 . PMC 342777 (free full text).
  • Grifoni 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 . In: Acta Haematol. . 53, No. 6, 1975, pp. 347-55. doi : 10.1159 / 000208204 . PMID 808940 .
  • Proudfoot NJ, Brownlee GG: 3 'non-coding region sequences in eukaryotic messenger RNA . In: Nature . 263, No. 5574, 1976, pp. 211-4. doi : 10.1038 / 263211a0 . PMID 822353 .
  • Marotta CA, Forget BG, Cohne-Solal M, et al. : Human beta-globin messenger RNA. I. Nucleotide sequences derived from complementary RNA . In: J. Biol. Chem. . 252, No. 14, 1977, pp. 5019-31. PMID 873928 .
  • Frier JA, Perutz MF: Structure of human fetal deoxyhaemoglobin . In: J. Mol. Biol. . 112, No. 1, 1977, pp. 97-112. doi : 10.1016 / S0022-2836 (77) 80158-7 . PMID 881729 .
  • Ahern E, Holder W, Ahern V, et al. : Hemoglobin F Victoria Jubilee (alpha 2 A gamma 2 80 Asp-Try) . In: Biochim. Biophys. Acta . 393, No. 1, 1975, pp. 188-94. PMID 1138921 .
  • Waye JS, Cai SP, Eng B, et al. : Clinical course and molecular characterization of a compound heterozygote for sickle hemoglobin and hemoglobin Kenya . In: Am. J. Hematol. . 41, No. 4, 1993, pp. 289-91. doi : 10.1002 / ajh.2830410413 . PMID 1283810 .
  • Bailey WJ, Hayasaka K, Skinner CG, et al. : Reexamination of the African hominoid trichotomy with additional sequences from the primate beta-globin gene cluster . In: Mol. Phylogenet. Evol. . 1, No. 2, 1994, pp. 97-135. doi : 10.1016 / 1055-7903 (92) 90024-B . PMID 1342932 .
  • Gottardi E, Losekoot M, Fodde R, et al. : Rapid identification by denaturing gradient gel electrophoresis of mutations in the gamma-globin gene promoters in non-deletion type HPFH . In: Br. J. Haematol. . 80, No. 4, 1992, pp. 533-8. doi : 10.1111 / j.1365-2141.1992.tb04569.x . PMID 1374633 .
  • Berry M, Grosveld F, Dillon N: A single point mutation is the cause of the Greek form of hereditary persistence of fetal hemoglobin . In: Nature . 358, No. 6386, 1992, pp. 499-502. doi : 10.1038 / 358499a0 . PMID 1379347 .
  • Loudianos G, Moi P, Lavinha J, et al. : Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemia . In: Hemoglobin . 16, No. 6, 1993, pp. 503-9. doi : 10.3109 / 03630269208993118 . PMID 1487421 .
  • Fucharoen S, Shimizu K, Fukumaki Y: A novel CT 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 . In: Nucleic Acids Res . 18, No. 17, 1990, pp. 5245-53. doi : 10.1093 / nar / 18.17.5245 . PMID 1698280 . PMC 332148 (free full text).
  • Plaseska D, Kutlar F, Wilson JB, et al. : Hb F-Jiangsu, the first gamma chain variant with a valine ---- methionine substitution: alpha 2A gamma 2 134 (H12) Val ---- Met . In: Hemoglobin . 14, No. 2, 1991, pp. 177-83. doi : 10.3109 / 03630269009046959 . PMID 1703137 .