Hemoglobin subunit alpha

Human hemoglobin protein From Wikipedia, the free encyclopedia

Hemoglobin subunit alpha

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

Quick Facts HBA1, Available structures ...
HBA1
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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; OMA:HBA1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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
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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 accounts for about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with fetal hemoglobin (HbF), composed of alpha and gamma chains, make 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

Further reading

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