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

    Gene ID: 3039, updated on 7-Oct-2018

    Summary

    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

    Genomic context

    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

    Genomic regions, transcripts, and products

    Expression

    • 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

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    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

    Pathways from BioSystems

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 
    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 carrier activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    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
      5030..5872
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000558.5NP_000549.1  hemoglobin subunit alpha

      See identical proteins and their annotated locations for NP_000549.1

      Status: REVIEWED

      Source sequence(s)
      BC005931
      Consensus CDS
      CCDS10399.1
      UniProtKB/Swiss-Prot
      P69905
      UniProtKB/TrEMBL
      D1MGQ2
      Related
      ENSP00000322421.5, OTTHUMP00000066501, ENST00000320868.9
      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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