Hemoglobin subunit gamma-1

NameHemoglobin subunit gamma-1
Synonyms
  • Gamma-1-globin
  • Hb F Agamma
  • Hemoglobin gamma-1 chain
  • Hemoglobin gamma-A chain
Gene NameHBG1
OrganismHuman
Amino acid sequence
>lcl|BSEQ0019590|Hemoglobin subunit gamma-1
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPK
VKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFG
KEFTPEVQASWQKMVTAVASALSSRYH
Number of residues147
Molecular Weight16140.37
Theoretical pINot Available
GO Classification
Functions
  • heme binding
  • oxygen binding
  • oxygen transporter activity
  • iron ion binding
Processes
  • blood coagulation
Components
  • hemoglobin complex
  • cytosol
General FunctionOxygen transporter activity
Specific FunctionGamma chains make up the fetal hemoglobin F, in combination with alpha chains.
Pfam Domain Function
Transmembrane RegionsNot Available
GenBank Protein IDNot Available
UniProtKB IDP69891
UniProtKB Entry NameHBG1_HUMAN
Cellular LocationNot Available
Gene sequence
>lcl|BSEQ0019591|Hemoglobin subunit gamma-1 (HBG1)
ATGGGTCATTTCACAGAGGAGGACAAGGCTACTATCACAAGCCTGTGGGGCAAGGTGAAT
GTGGAAGATGCTGGAGGAGAAACCCTGGGAAGGCTCCTGGTTGTCTACCCATGGACCCAG
AGGTTCTTTGACAGCTTTGGCAACCTGTCCTCTGCCTCTGCCATCATGGGCAACCCCAAA
GTCAAGGCACATGGCAAGAAGGTGCTGACTTCCTTGGGAGATGCCACAAAGCACCTGGAT
GATCTCAAGGGCACCTTTGCCCAGCTGAGTGAACTGCACTGTGACAAGCTGCATGTGGAT
CCTGAGAACTTCAAGCTCCTGGGAAATGTGCTGGTGACCGTTTTGGCAATCCATTTCGGC
AAAGAATTCACCCCTGAGGTGCAGGCTTCCTGGCAGAAGATGGTGACTGCAGTGGCCAGT
GCCCTGTCCTCCAGATACCACTGA
GenBank Gene IDNot Available
GeneCard IDNot Available
GenAtlas IDNot Available
HGNC IDHGNC:4831
Chromosome Location11
LocusNot Available
References
  1. Slightom JL, Blechl AE, 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. 1980 Oct;21(3):627-38. 7438203
  2. Shen SH, Slightom JL, Smithies O: A history of the human fetal globin gene duplication. Cell. 1981 Oct;26(2 Pt 2):191-203. 7332928
  3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. 15489334
  4. Wilson JB, Brennan SO, Allen J, Shaw JG, Gu LH, Huisman TH: 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. 1993 Jul 23;617(1):37-42. 7690768
  5. Blau CA, Barbas CF 3rd, Bomhoff AL, Neades R, Yan J, Navas PA, Peterson KR: {gamma}-Globin gene expression in chemical inducer of dimerization (CID)-dependent multipotential cells established from human {beta}-globin locus yeast artificial chromosome ({beta}-YAC) transgenic mice. J Biol Chem. 2005 Nov 4;280(44):36642-7. Epub 2005 Aug 30. 16131492
  6. Li TK, Leung KY, Lam YH, Tang MH, Chan V: Haemoglobin level, proportion of haemoglobin Bart's and haemoglobin Portland in fetuses affected by homozygous alpha0-thalassemia from 12 to 40 weeks' gestation. Prenat Diagn. 2010 Dec;30(12-13):1126-30. doi: 10.1002/pd.2619. 20925047
  7. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. 21269460
  8. Olufemi AE, Sola OB, Oluwaseyi BE, Ajani RA, Olusoji MO, Olubunmi HR: Hemoglobin F level in different hemoglobin variants. Korean J Hematol. 2011 Jun;46(2):118-22. doi: 10.5045/kjh.2011.46.2.118. Epub 2011 Jun 21. 21747884
  9. Musallam KM, Sankaran VG, Cappellini MD, Duca L, Nathan DG, Taher AT: Fetal hemoglobin levels and morbidity in untransfused patients with beta-thalassemia intermedia. Blood. 2012 Jan 12;119(2):364-7. doi: 10.1182/blood-2011-09-382408. Epub 2011 Nov 17. 22096240
  10. Kidd RD, Baker HM, Mathews AJ, Brittain T, Baker EN: 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. 2001 Sep;10(9):1739-49. 11514664
  11. Stegink LD, Meyer PD, Brummel MC: Human fetal hemoglobin F 1. Acetylation status. J Biol Chem. 1971 May 10;246(9):3001-7. 5554303
  12. Altay C, Gurgey A, Wilson JB, Hu H, Webber BB, Kutlar F, Huisman TH: Hb F-Baskent or alpha 2A gamma 128(H6)Ala----Thr. Hemoglobin. 1988;12(1):87-9. 2454900
  13. Chen SS, Wilson JB, Webber BB, Huisman TH: Hb F-Beech Island or alpha 2A gamma 2(53)(D4)Ala----Asp. Hemoglobin. 1985;9(5):525-9. 2417989
  14. Nakatsuji T, Headlee M, Lam H, Wilson JB, Huisman TH: 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. 1982;6(6):599-606. 6186637
  15. Nakatsuji T, Lam H, Huisman TH: Hb F-Calluna or alpha 2 gamma 2(12 Thr replaced by Arg; 75Ile; 136Ala) in a Caucasian baby. Hemoglobin. 1983;7(6):563-6. 6199326
  16. Chen SS, Webber BB, Kutlar A, Wilson JB, Huisman TH: Hb F-Cobb or alpha(2)A gamma(2)37(C3)Trp----Gly. Hemoglobin. 1985;9(6):617-9. 2419280
  17. Al-Awamy BH, Niazi GA, Al-Mouzan MI, Wilson JB, Chen SS, Webber BB, Huisman TH: Hb F-Dammam or alpha 2A gamma 2(79) (EF3) Asp----Asn. Hemoglobin. 1985;9(2):171-3. 2411679
  18. Schneider RG, Haggard ME, Gustavson LP, Brimhall B, Jones RT: Genetic haemoglobin abnormalities in about 9000 Black and 7000 White newborns; haemoglobin F Dickinson (Agamma97His-Arg), a new variant. Br J Haematol. 1974 Dec;28(4):515-24. 4455303
  19. Hidaka K, Iuchi I, Nakahara H, Iwakawa G: Hb F-Fukuyama or A gamma T43(CD2)Asp----Asn. Hemoglobin. 1989;13(1):93-6. 2467893
  20. Sacker LS, Beale D, Black AJ, Huntsman RG, Lehmann H, Lorkin PA: Haemoglobin F Hull (gamma-121 glutamic acid--lysine), homologous with haemoglobins O Arab and O Indonesia. Br Med J. 1967 Aug 26;3(5564):531-3. 6038320
  21. 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. 1981;5(2):139-51. 6163752
  22. 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. 1983 Dec 28;749(3):244-8. 6197997
  23. Ahern EJ, Jones RT, Brimhall B, Gray RH: Haemoglobin F Jamaica (alpha-2 gamma-2 61 Lys leads to Glu; 136 Ala). Br J Haematol. 1970 Mar;18(3):369-75. 5491586
  24. Plaseska D, Kutlar F, Wilson JB, Webber BB, Zeng YT, Huisman TH: Hb F-Jiangsu, the first gamma chain variant with a valine----methionine substitution: alpha 2A gamma 2 134(H12)Val----Met. Hemoglobin. 1990;14(2):177-83. 1703137
  25. 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. 1982;6(1):37-42. 6175602
  26. Luan Eng LI, Wiltshire BG, Lehmann H: Structural identification of haemoglobin F Kuala Lumpur: alpha2 gamma2 22(B4)Asp leads to Gly; 136 Ala. Biochim Biophys Acta. 1973 Oct 18;322(2):224-30. 4765089
  27. Plaseska D, Cepreganova-Krstik B, Momirovska A, Efremov GD: Hb F-Macedonia-I or alpha 2A gamma (2)2(NA2)His- > Gln. Hemoglobin. 1994 May;18(3):241-5. 7928382
  28. Chen SS, Wilson JB, Huisman TH: Hb F-Pendergrass, an A gamma I variant with a Pro----Arg substitution at position gamma 36(C2). Hemoglobin. 1985;9(1):73-7. 2581920
  29. Nakatsuji T, Webber B, Lam H, Wilson JB, Huisman TH, Sciarratta GV, Sansone G, Molaro GL: A new gamma chain variant: Hb F-Pordenone [gamma 6(A3) Glu replaced by Gln: 75ILE: 136ALA]. Hemoglobin. 1982;6(4):397-401. 6183236
  30. 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. Acta Haematol. 1975;53(6):347-55. 808940
  31. Care A, Marinucci M, Massa A, Maffi D, Sposi NM, Improta T, Tentori L: Hb F-Siena (alpha 2 a gamma t2 121 (GH4) Glu leads to Lys). A new fetal hemoglobin variant. Hemoglobin. 1983;7(1):79-83. 6188719
  32. Jenkins GC, Beale D, Black AJ, Huntsman GR, Lehmann H: Haemoglobin F Texas I(alpha-2,gamma-2-5glu-lys): a variant of haemoglobin F. Br J Haematol. 1967 Mar;13(2):252-5. 6019034
  33. Ahern E, Holder W, Ahern V, Serjeant GR, Serjeant BE, Forbes M, Brimhall B, Jones RT: Haemoglobin F Victoria Jubilee (alpha 2 A gamma 2 80 Asp-Try). Biochim Biophys Acta. 1975 May 30;393(1):188-94. 1138921
  34. Huisman TH, Kutlar F, Gu LH: Gamma chain abnormalities and gamma-globin gene rearrangements in newborn babies of various populations. Hemoglobin. 1991;15(5):349-79. 1802881
  35. Ma M, Hu H, Kutlar F, Wilson JB, Huisman TH: Hb F-Xin-Su or A gamma I73(E17)Asp----His: a new slow-moving fetal hemoglobin variant. Hemoglobin. 1987;11(5):473-9. 2448269
  36. Hu H, Ma M: Hb F-Xinjiang or A gamma T25(B7)Gly----Arg: a new slow-moving unstable fetal hemoglobin variant. Hemoglobin. 1987;11(5):465-72. 2448268
  37. Nakatsuji T, Ohba Y, Huisman TH: HB F-Yamaguchi (gamma 75Thr, gamma 80Asn, gamma 136Ala) is associated with G gamma-thalassemia. Am J Hematol. 1984 Feb;16(2):189-92. 6198905