Homo sapiens Gene: HBA1
Summary
InnateDB Gene IDBG-7127.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HBA1
Gene Name hemoglobin, alpha 1
Synonyms HBA-T2; HBA-T3; HBH;
Species Homo sapiens
Ensembl Gene ENSG00000206172
Encoded Proteins
hemoglobin, alpha 1
hemoglobin, alpha 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:176680-177522
Strand Forward strand
Band p13.3
Transcripts
ENST00000320868 ENSP00000322421
ENST00000397797 ENSP00000380899
ENST00000472694
ENST00000487791
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
Experimentally validated
Total 23 [view]
Protein-Protein 20 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004601 peroxidase activity
GO:0005344 oxygen transporter activity
GO:0005506 iron ion binding
GO:0005515 protein binding
GO:0019825 oxygen binding
GO:0020037 heme binding
GO:0031720 haptoglobin binding
Biological Process
GO:0010942 positive regulation of cell death
GO:0015671 oxygen transport
GO:0015701 bicarbonate transport
GO:0042542 response to hydrogen peroxide
GO:0042744 hydrogen peroxide catabolic process
GO:0044281 small molecule metabolic process
GO:0051291 protein heterooligomerization
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005576 extracellular region
GO:0005829 cytosol
GO:0005833 hemoglobin complex
GO:0016020 membrane
GO:0022627 cytosolic small ribosomal subunit
GO:0031838 haptoglobin-hemoglobin complex
GO:0070062 extracellular vesicular exosome
GO:0071682 endocytic vesicle lumen
GO:0072562 blood microparticle
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
O2/CO2 exchange in erythrocytes pathway
Scavenging of heme from plasma pathway
Erythrocytes take up oxygen and release carbon dioxide pathway
Binding and Uptake of Ligands by Scavenger Receptors pathway
Erythrocytes take up carbon dioxide and release oxygen pathway
Metabolism pathway
KEGG
African trypanosomiasis pathway
Malaria pathway
INOH
PID BIOCARTA
Hemoglobins chaperone [Biocarta view]
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_000558
HUGO
OMIM
CCDS CCDS10399
HPRD 00784
IMGT
EMBL
GenPept
RNA Seq Atlas