HBA1 (hemoglobin subunit alpha 1)

Gene

• Entrez ID: 3039
• Gene name: Hemoglobin subunit alpha 1
• Gene symbol: HBA1
• Synonyms: ECYT7, HBA-T3, HBH, METHBA
• Chromosome: 16
• Chromosome location: 16p13.3
• Summary: 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) 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. 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. 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. [provided by RefSeq, Jul 2008]

Transcription factors

Transcription factor	Regulation	Reference
ATRX	Repression	7697714
GATA1	Unknown	12609092;20564185
KLF4	Activation	20331458

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004601	Function	Peroxidase activity	IBA	21873635
GO:0004601	Function	Peroxidase activity	IDA	19740759
GO:0005344	Function	Oxygen carrier activity	IBA	21873635
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	1552945, 6683087, 9441940, 9830011, 9894000, 10390349, 10930828, 11159543, 11724557, 12072504, 15550245, 15835899, 16169070, 23123858, 25156257, 25416956, 29997244, 32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	21805676
GO:0005829	Component	Cytosol	TAS
GO:0005833	Component	Hemoglobin complex	IBA	21873635
GO:0005833	Component	Hemoglobin complex	IDA	19740759
GO:0005833	Component	Hemoglobin complex	TAS	7555018
GO:0006898	Process	Receptor-mediated endocytosis	TAS
GO:0010942	Process	Positive regulation of cell death	IDA	19740759
GO:0015671	Process	Oxygen transport	TAS	7518430
GO:0015701	Process	Bicarbonate transport	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0019825	Function	Oxygen binding	IBA	21873635
GO:0020037	Function	Heme binding	IBA	21873635
GO:0022627	Component	Cytosolic small ribosomal subunit	IDA	8706699
GO:0031720	Function	Haptoglobin binding	IBA	21873635
GO:0031720	Function	Haptoglobin binding	IDA	19740759
GO:0031838	Component	Haptoglobin-hemoglobin complex	IBA	21873635
GO:0031838	Component	Haptoglobin-hemoglobin complex	IDA	19740759
GO:0042542	Process	Response to hydrogen peroxide	IDA	19740759
GO:0042744	Process	Hydrogen peroxide catabolic process	IBA	21873635
GO:0042744	Process	Hydrogen peroxide catabolic process	IDA	19740759
GO:0043177	Function	Organic acid binding	IBA	21873635
GO:0070062	Component	Extracellular exosome	HDA	20458337, 23533145
GO:0071682	Component	Endocytic vesicle lumen	TAS
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0098869	Process	Cellular oxidant detoxification	IEA

Other IDs

• MIM: 141800
• HGNC: 4823
• e!Ensembl: ENSG00000206172

Protein

• UniProt ID: P69905
• Protein name: Hemoglobin subunit alpha (Alpha-globin) (Hemoglobin alpha chain)
• Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
• PDB: 1A00, 1A01, 1A0U, 1A0Z, 1A3N, 1A3O, 1A9W, 1ABW, 1ABY, 1AJ9, 1B86, 1BAB, 1BBB, 1BIJ, 1BUW, 1BZ0, 1BZ1, 1BZZ, 1C7B, 1C7C, 1C7D, 1CLS, 1CMY, 1COH, 1DKE, 1DXT, 1DXU, 1DXV, 1FDH, 1FN3, 1G9V, 1GBU, 1GBV, 1GLI, 1GZX, 1HAB, 1HAC, 1HBA, 1HBB, 1HBS, 1HCO, 1HDB, 1HGA, 1HGB, 1HGC, 1HHO, 1IRD, 1J3Y, 1J3Z, 1J40, 1J41
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00042	Globin	7 → 107	Globin	Domain

• Sequence:

  MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHG
  KKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTP
  AVHASLDKFLASVSTVLTSKYR

• Sequence length: 142