Hemoglobin subunit delta

NameHemoglobin subunit delta
Synonyms
  • Delta-globin
  • Hemoglobin delta chain
Gene NameHBD
OrganismHuman
Amino acid sequence
>lcl|BSEQ0013396|Hemoglobin subunit delta
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPK
VKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFG
KEFTPQMQAAYQKVVAGVANALAHKYH
Number of residues147
Molecular Weight16055.41
Theoretical pINot Available
GO Classification
Functions
  • iron ion binding
  • heme binding
  • oxygen binding
  • oxygen transporter activity
Processes
  • blood coagulation
Components
  • hemoglobin complex
  • cytosol
  • blood microparticle
General FunctionOxygen transporter activity
Specific FunctionInvolved in oxygen transport from the lung to the various peripheral tissues.
Pfam Domain Function
Transmembrane RegionsNot Available
GenBank Protein IDNot Available
UniProtKB IDP02042
UniProtKB Entry NameHBD_HUMAN
Cellular LocationNot Available
Gene sequence
>lcl|BSEQ0013397|Hemoglobin subunit delta (HBD)
ATGGTGCATCTGACTCCTGAGGAGAAGACTGCTGTCAATGCCCTGTGGGGCAAAGTGAAC
GTGGATGCAGTTGGTGGTGAGGCCCTGGGCAGATTACTGGTGGTCTACCCTTGGACCCAG
AGGTTCTTTGAGTCCTTTGGGGATCTGTCCTCTCCTGATGCTGTTATGGGCAACCCTAAG
GTGAAGGCTCATGGCAAGAAGGTGCTAGGTGCCTTTAGTGATGGCCTGGCTCACCTGGAC
AACCTCAAGGGCACTTTTTCTCAGCTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGAT
CCTGAGAACTTCAGGCTCTTGGGCAATGTGCTGGTGTGTGTGCTGGCCCGCAACTTTGGC
AAGGAATTCACCCCACAAATGCAGGCTGCCTATCAGAAGGTGGTGGCTGGTGTGGCTAAT
GCCCTGGCTCACAAGTACCATTGA
GenBank Gene IDNot Available
GeneCard IDNot Available
GenAtlas IDNot Available
HGNC IDHGNC:4829
Chromosome Location11
LocusNot Available
References
  1. Spritz RA, DeRiel JK, Forget BG, Weissman SM: Complete nucleotide sequence of the human delta-globin gene. Cell. 1980 Oct;21(3):639-46. 7438204
  2. Eram SM, Azimifar B, Abolghasemi H, Foulady P, Lotfi V, Masrouri M, Hosseini M, Abdolhosseini A, Zeinali S: The IVS-II-1 (G-->a) beta0-thalassemia mutation in cis with HbA2-Troodos [delta116(G18)Arg-->Cys (CGC-->TGC)] causes a complex prenatal diagnosis in an Iranian family. Hemoglobin. 2005;29(4):289-92. 16370491
  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. Braunitzer G, Schrank B, Stangl A, Grillemeier M: [Hemoglobin XXIII: note on the sequence of the delta-chains of human hemoglobin (author's transl)]. Hoppe Seylers Z Physiol Chem. 1978 Jul;359(7):777-83. 680638
  5. 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
  6. Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J Proteomics. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. 24275569
  7. Sen U, Dasgupta J, Choudhury D, Datta P, Chakrabarti A, Chakrabarty SB, Chakrabarty A, Dattagupta JK: Crystal structures of HbA2 and HbE and modeling of hemoglobin delta 4: interpretation of the thermal stability and the antisickling effect of HbA2 and identification of the ferrocyanide binding site in Hb. Biochemistry. 2004 Oct 5;43(39):12477-88. 15449937
  8. Ball EW, Meynell MJ, Beale D, Kynoch P, Lehmann H, Stretton AO: Haemoglobin A2: alpha-2-delta-2-16 glycine--arginine. Nature. 1966 Mar 19;209(5029):1217-8. 5956309
  9. de Jong WW, Bernini LF: Haemoglobin Babinga (delta 136 glycine-aspartic acid): a new delta chain variant. Nature. 1968 Sep 28;219(5161):1360-2. 5678016
  10. Ranney HM, Jacobs AS, Ramot B, Bradley TB Jr: Hemoglobin NYU, a delta chain variant, alpha 2 delta 2 lys. J Clin Invest. 1969 Nov;48(11):2057-62. 5824070
  11. Eng LI, Pribadi W, Westendorp Boerma F, Efremov GD, Wilson JB, Reynolds CA, Huisman TH: Hemoglobin A2-Indonesia or alpha 2 delta 2 69(E13) Gly--Arg. Biochim Biophys Acta. 1971 Feb 16;229(2):335-42. 4995018
  12. Sharma RS, Harding DL, Wong SC, Wilson JB, Gravely ME, Huisman TH: A new delta chain variant, haemoglobin-A2-Melbourne or alpha2 delta2 43Glu-Lys(CD2). Biochim Biophys Acta. 1974 Aug 8;359(2):233-5. 4850239
  13. Sharma RS, Williams L, Wilson JB, Huisman TH: Hemoglobin-A2-Coburg or alpha2delta2116Arg leads to His (G18). Biochim Biophys Acta. 1975 Jun 26;393(2):379-82. 1148221
  14. Rieder RF, Clegg JB, Weiss HJ, Christy NP, Rabinowitz R: Hemoglobin A2-Roosevelt: alpha 2 delta 2 20Val replaced by Glu. Biochim Biophys Acta. 1976 Aug 9;439(2):501-4. 952968
  15. Salkie ML, Gordon PA, Rigal WM, Lam H, Wilson JB, Headlee ME, Huisman TH: Hb A2-Canada or alpha 2 delta 2 99(G1) Asp replaced by Asn, a newly discovered delta chain variant with increased oxygen affinity occurring in cis to beta-thalassemia. Hemoglobin. 1982;6(3):223-31. 7129931
  16. Romero Garcia C, Navarro JL, Lam H, Webber BB, Headlee MG, Wilson JB, Huisman TH: Hb A2-Manzanares or alpha 2 delta 2 121 (GH4) Glu replaced by Val, an unstable delta chain variant observed in a Spanish family. Hemoglobin. 1983;7(5):435-42. 6629825
  17. Juricic D, Crepinko I, Efremov GD, Lam H, Webber BB, Headlee MG, Huisman TH: Hb A2-Zagreb or alpha 2 delta 2(125)(H3)Gln replaced by Glu, a new delta chain variant in association with delta beta-thalassemia. Hemoglobin. 1983;7(5):443-8. 6629826
  18. Brennan SO, Williamson D, Smith MB, Cauchi MN, Macphee A, Carrell RW: HbA2 Victoria delta 24 (B6) Gly----Asp. A new delta chain variant occurring with beta-thalassemia. Hemoglobin. 1984;8(2):163-8. 6469695
  19. Williamson D, Brennan SO, Strosberg H, Whitty J, Carrell RW: Hemoglobin A2 Fitzroy delta 142 Ala----Asp: a new delta-chain variant. Hemoglobin. 1984;8(4):325-32. 6548205
  20. Fujita S, Ohta Y, Saito S, Kobayashi Y, Naritomi Y, Kawaguchi T, Imamura T, Wada Y, Hayashi A: Hemoglobin A2 Honai (alpha 2 delta 2(90)(F6)Glu----Val): a new delta chain variant. Hemoglobin. 1985;9(6):597-607. 2869009
  21. Ohba Y, Igarashi M, Tsukahara M, Nakashima M, Sanada C, Ami M, Arai Y, Miyaji T: Hb A2 Yokoshima, alpha(2)delta(2)25(B7)Gly----Asp, a new delta chain variant found in a Japanese family. Hemoglobin. 1985;9(6):613-5. 3841531
  22. Codrington JF, Kutlar F, Harris HF, Wilson JB, Stoming TA, Huisman TH: Hb A2-Wrens or alpha 2 delta 2 98(FG5) Val----Met, an unstable delta chain variant identified by sequence analysis of amplified DNA. Biochim Biophys Acta. 1989 Sep 21;1009(1):87-9. 2477064
  23. Trifillis P, Ioannou P, Schwartz E, Surrey S: Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis. Blood. 1991 Dec 15;78(12):3298-305. 1742490
  24. Harano T, Harano K, Kushida Y, Ueda S, Kawakami H: Hb A2-Niigata [delta 1(NA1)Val----Ala]: a new delta chain variant found in the Japanese population. Hemoglobin. 1991;15(4):335-9. 1787103
  25. Leung H, Gilbert AT, Fleming PJ, Wong J, Hughes WG, Hussein S, Nash AR: Hb A2-Parkville or delta 47(CD6)Asp----Val, a new delta chain variant. Hemoglobin. 1991;15(5):407-16. 1802883
  26. Loudianos G, Murru S, Kanavakis E, Metaxotou-Mavromati A, Theodoropoulou D, Kattamis C, Cao A, Pirastu M: A new delta chain variant hemoglobin A2-Corfu or alpha 2 delta 2 116 Arg----Cys (G18), detected by delta-globin gene analysis in a Greek family. Hum Genet. 1991 Jun;87(2):237-8. 2066116
  27. Trifillis P, Kyrri A, Kalogirou E, Kokkofitou A, Ioannou P, Schwartz E, Surrey S: Analysis of delta-globin gene mutations in Greek cypriots. Blood. 1993 Sep 1;82(5):1647-51. 8364213
  28. Molchanova TP, Postnikov YV, Gu LH, Huisman TH: Hb A2-Grovetown or alpha 2 delta (2)75(E19)Leu-->Val. Hemoglobin. 1993 Jun;17(3):289-91. 8330984
  29. Loudianos G, Porcu S, Cossu P, Tannoia N, Vitucci A, Campanale D, Cao A, Pirastu M: A new delta-chain variant hemoglobin A2-Puglia or alpha 2 delta 2 26 Glu-->Asp (B8), detected by DNA analysis in a family of southern Italian origin. Hum Mutat. 1993;2(4):327-9. 8401543
  30. Galanello R, Gasperini D, Perseu L, Barella S, Ideo A, Cao A: Hb A2-Sant' Antioco [alpha 2 delta (2)93(F9)Cys-->Gly]: a new delta chain variant identified by sequencing of amplified DNA. Hemoglobin. 1994 Nov;18(6):437-9. 7713748
  31. Papadakis M, Drakoulakou O, Papapanagiotou E, Pessini D, Loutradi-Anagnostou A: Hb A2-Agrinio [delta 43(CD2)Glu-->Gly(GAG-->GGG)]: a new delta chain variant detected in a Greek family. Hemoglobin. 1995 Sep;19(5):295-9. 8537235
  32. Drakoulakou O, Papapanagiotou E, Loutradi-Anagnostou A, Papadakis M: delta-Thalassemic phenotype due to two "novel" delta-globin gene mutations: CD11[GTC-->GGC (A8)-HbA2-Pylos] and CD 85[TTT-->TCT(F1)-HbA2-Etolia]. Hum Mutat. 1997;9(4):344-7. 9101295
  33. De Angioletti M, Di Girgenti C, Messineo R, Capra M, Carestia C: Hb A2-Monreale [delta146(HC3)His-->Arg], a novel delta chain variant detected in west Sicily. Hemoglobin. 2002 Feb;26(1):1-5. 11939506
  34. De Angioletti M, Lacerra G, Gaudiano C, Mastrolonardo G, Pagano L, Mastrullo L, Masciandaro S, Carestia C: Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features. Hum Mutat. 2002 Nov;20(5):358-67. 12402333
  35. Frischknecht H, Dutly F: Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a delta(+)-thalassemia mutation [-31 (A --> G)] in the TATA box of the delta-globin gene. Hemoglobin. 2005;29(2):151-4. 15921167
  36. Walker L, Patterson M, Eng B, McFarlane A, Waye JS: Identification of a new delta chain hemoglobin variant in a beta-thalassemia carrier: Hb A2-mumc [delta13(a10)Ala-->Asp]. Hemoglobin. 2005;29(4):285-7. 16370490
  37. Giambona A, Passarello C, Ruggeri G, Renda D, Teresi P, Anza M, Maggio A: Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations. Haematologica. 2006 Dec;91(12):1681-4. 17145605