Hemoglobin subunit alpha

Hemoglobin subunit alpha, Hemoglobin, alpha 1,[5] is a hemoglobin protein that in humans is encoded by the HBA1 gene.[6]

HBA1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHBA1, HBA-T3, HBH, hemoglobin subunit alpha 1, METHBA, ECYT7
External IDsOMIM: 141800 MGI: 96015 HomoloGene: 469 GeneCards: HBA1
Orthologs
SpeciesHumanMouse
Entrez

3039

15122

Ensembl

ENSG00000206172

ENSMUSG00000069919

UniProt

P69905

Q91VB8

RefSeq (mRNA)

NM_000558

NM_008218

RefSeq (protein)

NP_000508
NP_000508.1
NP_000549.1

NP_001077424

Location (UCSC)Chr 16: 0.18 – 0.18 MbChr 11: 32.23 – 32.23 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Gene

The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1; this gene) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions.[6]

Protein

Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with fetal hemoglobin (HbF) makes up the remaining 3% of adult hemoglobin.[6]

Clinical significance

Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported.[6]

Interactions

Hemoglobin subunit alpha has been shown to interact with hemoglobin subunit beta (HBB).[7][8]

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000206172 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000069919 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "HBA1 gene: MedlinePlus Genetics".
  6. "Entrez Gene: HBA1 hemoglobin, alpha 1".
  7. Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE (September 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.
  8. Shaanan B (November 1983). "Structure of human oxyhaemoglobin at 2.1 A resolution". J. Mol. Biol. 171 (1): 31–59. doi:10.1016/S0022-2836(83)80313-1. PMID 6644819.

Further reading

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