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

Gene ID: 3039, updated on 9-Jun-2018
Official Symbol
HBA1provided by HGNC
Official Full Name
hemoglobin subunit alpha 1provided by HGNC
Primary source
HGNC:HGNC:4823
See related
Ensembl:ENSG00000206172 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; ECYT7; HBA-T3; METHBA
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 Genome Data Viewer
Location:
16p13.3
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 subunit alpha 2 recombination region Neighboring gene hemoglobin subunit alpha pseudogene 1 Neighboring gene hemoglobin subunit alpha 1 recombination region Neighboring gene hemoglobin subunit alpha 2 Neighboring gene hemoglobin subunit theta 1 Neighboring gene LUC7 like

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
alpha Thalassemia
MedGen: C0002312 OMIM: 604131 GeneReviews: Alpha-Thalassemia
Compare labs
ERYTHROCYTOSIS, FAMILIAL, 7
MedGen: CN244942 OMIM: 617981 GeneReviews: Not available
not available
Heinz body anemia
MedGen: C0700299 OMIM: 140700 GeneReviews: Not available
Compare labs
Hemoglobin H
MedGen: C3161174 OMIM: 613978 GeneReviews: Not available
Compare labs
METHEMOGLOBINEMIA, ALPHA TYPE
MedGen: CN244922 OMIM: 617973 GeneReviews: Not available
not available

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...
  • Effects of Nitric Oxide, organism-specific biosystem (from WikiPathways)
    Effects of Nitric Oxide, organism-specific biosystemNO (Nitric oxide) is an important signalling molecule with vasodilatory and anti-inflammatory effects, indicating a postive role in reducing hypertension and cardiovascular disease. At the same time,...
  • 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...
  • Folate Metabolism, organism-specific biosystem (from WikiPathways)
    Folate Metabolism, organism-specific biosystem
    Folate Metabolism
  • 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 Micronutrient Network, organism-specific biosystem (from WikiPathways)
    Selenium Micronutrient Network, organism-specific biosystem
    Selenium Micronutrient Network
  • 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...
  • Vitamin B12 Metabolism, organism-specific biosystem (from WikiPathways)
    Vitamin B12 Metabolism, organism-specific biosystem
    Vitamin B12 Metabolism
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC14541, MGC126895, MGC126897

Gene Ontology Provided by GOA

Function Evidence Code Pubs
CONTRIBUTES_TO haptoglobin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to haptoglobin binding IDA
Inferred from Direct Assay
more info
PubMed 
heme binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heme binding IEA
Inferred from Electronic Annotation
more info
 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
organic acid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxygen binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxygen binding IEA
Inferred from Electronic Annotation
more info
 
oxygen carrier activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxygen carrier activity IEA
Inferred from Electronic Annotation
more info
 
CONTRIBUTES_TO peroxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to peroxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IBA
Inferred from Biological aspect of Ancestor
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
 
cellular oxidant detoxification IEA
Inferred from Electronic Annotation
more info
 
hydrogen peroxide catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hydrogen peroxide catabolic 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 IBA
Inferred from Biological aspect of Ancestor
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 
Component Evidence Code Pubs
blood microparticle HDA 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 HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
haptoglobin-hemoglobin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
haptoglobin-hemoglobin complex IDA
Inferred from Direct Assay
more info
PubMed 
hemoglobin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hemoglobin complex IDA
Inferred from Direct Assay
more info
PubMed 
hemoglobin complex TAS
Traceable Author Statement
more info
PubMed 
membrane HDA PubMed 
Preferred Names
hemoglobin subunit alpha
Names
alpha globin chain
alpha one globin
alpha-2 globin chain
delta globin
hemoglobin alpha 1 globin chain
hemoglobin, alpha 1

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_059186.1 RefSeqGene

    Range
    5001..5872
    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/Swiss-Prot
    P69905
    UniProtKB/TrEMBL
    D1MGQ2
    Related
    ENSP00000322421.5, OTTHUMP00000066501, ENST00000320868.9, 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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

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