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HBA1 hemoglobin, alpha 1 [ Homo sapiens (human) ]

Gene ID: 3039, updated on 26-Jul-2015
Official Symbol
HBA1provided by HGNC
Official Full Name
hemoglobin, alpha 1provided by HGNC
Primary source
HGNC:HGNC:4823
See related
Ensembl:ENSG00000206172; HPRD:00784; MIM:141800; Vega:OTTHUMG00000060138
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HBH; HBA-T3
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]
Annotation information
Note: We are aware that there is inconsistency among GenBank, RefSeq, and other browsers about the gene order in the alpha globin cluster. According to review by staff at HbVar (http://globin.bx.psu.edu/hbvar/menu.html), the gene order, telomere to centromere, for these loci is ...HBZ(HBZ2)..HBZP(HBZ1)..HBA2..HBA1... [13 Feb 2013]
Orthologs
See HBA1 in Epigenomics, MapViewer
Location:
16p13.3
Exon count:
3
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (176651..177522)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (226679..227520)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene hemoglobin, mu Neighboring gene hemoglobin, alpha 2 Neighboring gene hemoglobin, theta 1 Neighboring gene LUC7-like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
alpha Thalassemia
MedGen: C0002312 OMIM: 604131 GeneReviews: Alpha-Thalassemia
Compare labs
Heinz body anemias
MedGen: C0700299 OMIM: 140700 GeneReviews: Not available
Compare labs
Hemoglobin H disease
MedGen: C3161174 OMIM: 613978 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
  • African trypanosomiasis, organism-specific biosystem (from KEGG)
    African trypanosomiasis, organism-specific biosystemTrypanosoma brucei, the parasite responsible for African trypanosomiasis (sleeping sickness), are spread by the tsetse fly in sub-Saharan Africa. The parasites are able to pass through the blood-brai...
  • African trypanosomiasis, conserved biosystem (from KEGG)
    African trypanosomiasis, conserved biosystemTrypanosoma brucei, the parasite responsible for African trypanosomiasis (sleeping sickness), are spread by the tsetse fly in sub-Saharan Africa. The parasites are able to pass through the blood-brai...
  • Binding and Uptake of Ligands by Scavenger Receptors, organism-specific biosystem (from REACTOME)
    Binding and Uptake of Ligands by Scavenger Receptors, organism-specific biosystemScavenger receptors bind free extracellular ligands as the initial step in clearance of the ligands from the body (reviewed in Ascenzi et al. 2005, Areschoug and Gordon 2009, Nielsen et al. 2010). So...
  • Erythrocytes take up carbon dioxide and release oxygen, organism-specific biosystem (from REACTOME)
    Erythrocytes take up carbon dioxide and release oxygen, organism-specific biosystemCarbon dioxide (CO2) in plasma is hydrated to yield protons (H+) and bicarbonate (HCO3-) by carbonic anhydrase IV (CA4) located on the apical plasma membranes of endothelial cells. Plasma CO2 is also...
  • Erythrocytes take up oxygen and release carbon dioxide, organism-specific biosystem (from REACTOME)
    Erythrocytes take up oxygen and release carbon dioxide, organism-specific biosystemErythrocytes circulating through the capillaries of the lung must exchange carbon dioxide (CO2) for oxygen (O2) during their short (0.5-1 sec.) transit time in pulmonary tissue (Reviewed in Jensen 20...
  • Malaria, organism-specific biosystem (from KEGG)
    Malaria, organism-specific biosystemPlasmodium protozoa are parasites that account for malaria infection. Sporozoite forms of the parasite are injected by mosquito bites under the skin and are carried to the liver where they develop in...
  • Malaria, conserved biosystem (from KEGG)
    Malaria, conserved biosystemPlasmodium protozoa are parasites that account for malaria infection. Sporozoite forms of the parasite are injected by mosquito bites under the skin and are carried to the liver where they develop in...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • O2/CO2 exchange in erythrocytes, organism-specific biosystem (from REACTOME)
    O2/CO2 exchange in erythrocytes, organism-specific biosystemIn capillaries of the lungs erythrocytes release carbon dioxide (CO2) and acquire oxygen (O2). In other tissues of the body the reverse reaction occurs (reviewed in Nikinmaa 1997, Jensen 2004).In the...
  • Scavenging of heme from plasma, organism-specific biosystem (from REACTOME)
    Scavenging of heme from plasma, organism-specific biosystemFree heme is damaging to tissues as it intercalates into biologic membranes, perturbing lipid bilayers and promoting the conversion of low-density lipoprotein to cytotoxic oxidized products. Moreover...
  • Selenium Pathway, organism-specific biosystem (from WikiPathways)
    Selenium Pathway, organism-specific biosystem
    Selenium Pathway
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC126895, MGC126897

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to haptoglobin binding IDA
Inferred from Direct Assay
more info
PubMed 
heme binding IEA
Inferred from Electronic Annotation
more info
 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
oxygen binding IEA
Inferred from Electronic Annotation
more info
 
oxygen transporter activity IEA
Inferred from Electronic Annotation
more info
 
contributes_to peroxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
bicarbonate transport TAS
Traceable Author Statement
more info
 
hydrogen peroxide catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
oxidation-reduction process IDA
Inferred from Direct Assay
more info
PubMed 
oxygen transport TAS
Traceable Author Statement
more info
PubMed 
positive regulation of cell death IDA
Inferred from Direct Assay
more info
PubMed 
protein heterooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
receptor-mediated endocytosis TAS
Traceable Author Statement
more info
 
response to hydrogen peroxide IDA
Inferred from Direct Assay
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
blood microparticle IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
cytosolic small ribosomal subunit IDA
Inferred from Direct Assay
more info
PubMed 
endocytic vesicle lumen TAS
Traceable Author Statement
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
haptoglobin-hemoglobin complex IDA
Inferred from Direct Assay
more info
PubMed 
hemoglobin complex IDA
Inferred from Direct Assay
more info
PubMed 
hemoglobin complex TAS
Traceable Author Statement
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
hemoglobin subunit alpha
Names
alpha one globin
alpha-2 globin chain
delta globin
hemoglobin alpha 1 globin chain

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_000006.1 RefSeqGene

    Range
    37514..38385
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000558.4NP_000549.1  hemoglobin subunit alpha

    See identical proteins and their annotated locations for NP_000549.1

    Status: REVIEWED

    Source sequence(s)
    AI064720, BC101846, Z84721
    Consensus CDS
    CCDS10399.1
    UniProtKB/TrEMBL
    D1MGQ2
    UniProtKB/Swiss-Prot
    P69905
    Related
    ENSP00000322421, OTTHUMP00000066501, ENST00000320868, OTTHUMT00000133459
    Conserved Domains (1) summary
    cd08927
    Location:3142
    Hb-alpha_like; Hemoglobin alpha, zeta, mu, theta, and related Hb subunits

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    176651..177522
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    226657..227528
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)