Hmdb loader
Survey

Showing Protein Hemoglobin subunit delta (HMDBP08651)

IdentificationBiological propertiesGene propertiesProtein propertiesExternal linksReferencesXMLShow 2 metabolites
Identification
HMDB Protein ID HMDBP08651
Secondary Accession Numbers
  • 14370
Name Hemoglobin subunit delta
Synonyms
  1. Delta-globin
  2. Hemoglobin delta chain
Gene Name HBD
Protein Type Unknown
Biological Properties
General Function Involved in iron ion binding
Specific Function Involved in oxygen transport from the lung to the various peripheral tissues
Pathways Not Available
Reactions Not Available
GO Classification
Component
macromolecular complex
protein complex
hemoglobin complex
Function
ion binding
cation binding
metal ion binding
binding
transition metal ion binding
iron ion binding
heme binding
oxygen binding
Process
establishment of localization
transport
gas transport
oxygen transport
Cellular Location Not Available
Gene Properties
Chromosome Location Chromosome:1
Locus 11p15.5
SNPs HBD
Gene Sequence 
>444 bp
ATGGTGCATCTGACTCCTGAGGAGAAGACTGCTGTCAATGCCCTGTGGGGCAAAGTGAAC
GTGGATGCAGTTGGTGGTGAGGCCCTGGGCAGATTACTGGTGGTCTACCCTTGGACCCAG
AGGTTCTTTGAGTCCTTTGGGGATCTGTCCTCTCCTGATGCTGTTATGGGCAACCCTAAG
GTGAAGGCTCATGGCAAGAAGGTGCTAGGTGCCTTTAGTGATGGCCTGGCTCACCTGGAC
AACCTCAAGGGCACTTTTTCTCAGCTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGAT
CCTGAGAACTTCAGGCTCTTGGGCAATGTGCTGGTGTGTGTGCTGGCCCGCAACTTTGGC
AAGGAATTCACCCCACAAATGCAGGCTGCCTATCAGAAGGTGGTGGCTGGTGTGGCTAAT
GCCCTGGCTCACAAGTACCATTGA
Protein Properties
Number of Residues 147
Molecular Weight 16055.4
Theoretical pI 8.26
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence 
>Hemoglobin subunit delta
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPK
VKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFG
KEFTPQMQAAYQKVVAGVANALAHKYH
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID P02042
UniProtKB/Swiss-Prot Entry Name HBD_HUMAN
PDB IDs
GenBank Gene ID AY034468
GeneCard ID HBD
GenAtlas ID HBD
HGNC ID HGNC:4829
References
General References
  1. 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. [PubMed:15489334 ]
  2. Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ: Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer. Cell. 2007 Dec 14;131(6):1190-203. [PubMed:18083107 ]
  3. Spritz RA, DeRiel JK, Forget BG, Weissman SM: Complete nucleotide sequence of the human delta-globin gene. Cell. 1980 Oct;21(3):639-46. [PubMed:7438204 ]
  4. 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. [PubMed:16370491 ]
  5. 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. [PubMed:680638 ]
  6. 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. [PubMed:5956309 ]
  7. 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. [PubMed:5678016 ]
  8. 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. [PubMed:5824070 ]
  9. 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. [PubMed:4995018 ]
  10. 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. [PubMed:4850239 ]
  11. 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. [PubMed:1148221 ]
  12. 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. [PubMed:952968 ]
  13. 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. [PubMed:7129931 ]
  14. 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. [PubMed:6629825 ]
  15. 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. [PubMed:6629826 ]
  16. 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. [PubMed:6469695 ]
  17. 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. [PubMed:6548205 ]
  18. 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. [PubMed:2869009 ]
  19. 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. [PubMed:3841531 ]
  20. 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. [PubMed:2477064 ]
  21. 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. [PubMed:1742490 ]
  22. 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. [PubMed:1787103 ]
  23. 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. [PubMed:1802883 ]
  24. 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. [PubMed:2066116 ]
  25. 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. [PubMed:8364213 ]
  26. 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. [PubMed:8330984 ]
  27. 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. [PubMed:8401543 ]
  28. 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. [PubMed:7713748 ]
  29. 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. [PubMed:8537235 ]
  30. 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. [PubMed:9101295 ]
  31. 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. [PubMed:11939506 ]
  32. 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. [PubMed:12402333 ]
  33. 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. [PubMed:15921167 ]
  34. 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. [PubMed:16370490 ]
  35. 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. [PubMed:17145605 ]