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    ATP6V1A ATPase H+ transporting V1 subunit A [ Homo sapiens (human) ]

    Gene ID: 523, updated on 23-Nov-2023

    Summary

    Official Symbol
    ATP6V1Aprovided by HGNC
    Official Full Name
    ATPase H+ transporting V1 subunit Aprovided by HGNC
    Primary source
    HGNC:HGNC:851
    See related
    Ensembl:ENSG00000114573 MIM:607027; AllianceGenome:HGNC:851
    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
    HO68; VA68; VPP2; Vma1; DEE93; ARCL2D; ATP6A1; IECEE3; ATP6V1A1
    Summary
    This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 61.4), kidney (RPKM 46.5) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ATP6V1A in Genome Data Viewer
    Location:
    3q13.31
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (113747035..113812056)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (116467516..116533252)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (113465882..113530903)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene upstream transcription factor family member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14608 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14609 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:113463940-113464676 Neighboring gene N-alpha-acetyltransferase 50, NatE catalytic subunit Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:113464677-113465412 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:113465413-113466148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20263 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14611 Neighboring gene GRAM domain containing 1C Neighboring gene ribosomal protein S10 pseudogene 4 Neighboring gene CTDNEP1 pseudogene 1

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Autosomal recessive cutis laxa type 2D
    MedGen: C4479409 OMIM: 617403 GeneReviews: Not available
    Compare labs
    Epileptic encephalopathy, infantile or early childhood, 3
    MedGen: C4693934 OMIM: 618012 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables proton-transporting ATP synthase activity, rotational mechanism IEA
    Inferred from Electronic Annotation
    more info
     
    enables proton-transporting ATPase activity, rotational mechanism IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in Golgi membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in clathrin-coated vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endosome membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in extrinsic component of synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in lysosomal membrane HDA PubMed 
    is_active_in lysosomal membrane IC
    Inferred by Curator
    more info
    PubMed 
    located_in lysosomal membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microvillus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of proton-transporting V-type ATPase complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of proton-transporting two-sector ATPase complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in secretory granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transmembrane transporter complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of vacuolar proton-transporting V-type ATPase, V1 domain IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    V-type proton ATPase catalytic subunit A
    Names
    ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
    ATPase, H+ transporting, lysosomal, subunit A1
    H(+)-transporting two-sector ATPase, subunit A
    H+-transporting ATPase chain A, vacuolar (VA68 type)
    V-ATPase 69 kDa subunit 1
    V-ATPase A subunit 1
    V-ATPase subunit A
    V-type proton ATPase (V-ATPase) catalytic subunit A
    vacuolar proton pump alpha subunit 1
    vacuolar proton pump subunit alpha
    vacuolar-type H(+)-ATPase
    NP_001681.2
    XP_047304261.1
    XP_047304262.1
    XP_054202813.1
    XP_054202814.1
    XP_054202815.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_047012.1 RefSeqGene

      Range
      5017..70038
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001690.4NP_001681.2  V-type proton ATPase catalytic subunit A

      See identical proteins and their annotated locations for NP_001681.2

      Status: REVIEWED

      Source sequence(s)
      AF339827, AK314779, BC012169, DC350361
      Consensus CDS
      CCDS2976.1
      UniProtKB/Swiss-Prot
      B2RBR8, B7Z1R5, D3DN75, P38606, Q53YD9, Q96DY6, Q9UHY3
      UniProtKB/TrEMBL
      A0A994J738
      Related
      ENSP00000273398.3, ENST00000273398.8
      Conserved Domains (1) summary
      TIGR01042
      Location:17609
      V-ATPase_V1_A; V-type (H+)-ATPase V1, A subunit

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      113747035..113812056
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448306.1XP_047304262.1  V-type proton ATPase catalytic subunit A isoform X1

      UniProtKB/Swiss-Prot
      B2RBR8, B7Z1R5, D3DN75, P38606, Q53YD9, Q96DY6, Q9UHY3
      UniProtKB/TrEMBL
      A0A994J738
      Related
      ENSP00000515542.1, ENST00000703904.2
    2. XM_047448305.1XP_047304261.1  V-type proton ATPase catalytic subunit A isoform X1

      UniProtKB/Swiss-Prot
      B2RBR8, B7Z1R5, D3DN75, P38606, Q53YD9, Q96DY6, Q9UHY3
      UniProtKB/TrEMBL
      A0A994J738

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      116467516..116533252
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346838.1XP_054202813.1  V-type proton ATPase catalytic subunit A isoform X1

      UniProtKB/Swiss-Prot
      B2RBR8, B7Z1R5, D3DN75, P38606, Q53YD9, Q96DY6, Q9UHY3
      UniProtKB/TrEMBL
      A0A994J738
    2. XM_054346840.1XP_054202815.1  V-type proton ATPase catalytic subunit A isoform X1

      UniProtKB/Swiss-Prot
      B2RBR8, B7Z1R5, D3DN75, P38606, Q53YD9, Q96DY6, Q9UHY3
      UniProtKB/TrEMBL
      A0A994J738
    3. XM_054346839.1XP_054202814.1  V-type proton ATPase catalytic subunit A isoform X1

      UniProtKB/Swiss-Prot
      B2RBR8, B7Z1R5, D3DN75, P38606, Q53YD9, Q96DY6, Q9UHY3
      UniProtKB/TrEMBL
      A0A994J738