Hemoglobin, alpha 1

HBA1
Available structures
PDBHuman UniProt search: PDBe RCSB
Identifiers
Aliases HBA1, HBA-T3, HBH, hemoglobin subunit alpha 1
External IDs MGI: 96015 HomoloGene: 469 GeneCards: HBA1
Orthologs
Species Human Mouse
Entrez

3039

15122

Ensembl

ENSG00000206172

ENSMUSG00000069919

UniProt

P69905

n/a

RefSeq (mRNA)

NM_000558

NM_008218

RefSeq (protein)

NP_000508.1
NP_000549.1
NP_000508.1
NP_000549.1

n/a

Location (UCSC) Chr 16: 0.18 – 0.18 Mb Chr 11: 32.28 – 32.28 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Hemoglobin, alpha 1, also known as HBA1, is a hemoglobin protein that in humans is encoded by the HBA1 gene.[3]

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.[3]

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 HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin.[3]

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.[3]

Interactions

Hemoglobin, alpha 1 has been shown to interact with HBB.[4][5]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 1 2 3 4 "Entrez Gene: HBA1 hemoglobin, alpha 1".
  4. 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. PMID 16169070.
  5. 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

External links

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