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    ATP6AP1 ATPase H+ transporting accessory protein 1 [ Homo sapiens (human) ]

    Gene ID: 537, updated on 2-Aug-2021

    Summary

    Official Symbol
    ATP6AP1provided by HGNC
    Official Full Name
    ATPase H+ transporting accessory protein 1provided by HGNC
    Primary source
    HGNC:HGNC:868
    See related
    Ensembl:ENSG00000071553 MIM:300197
    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
    16A; CF2; Ac45; XAP3; XAP-3; ATP6S1; VATPS1; ATP6IP1
    Summary
    This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013]
    Expression
    Ubiquitous expression in brain (RPKM 59.1), thyroid (RPKM 48.0) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ATP6AP1 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (154428669..154436516)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153657023..153664862)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene deoxyribonuclease 1 like 1 Neighboring gene tafazzin, phospholipid-lysophospholipid transacylase Neighboring gene uncharacterized protein BC009467 Neighboring gene GDP dissociation inhibitor 1 Neighboring gene family with sequence similarity 50 member A Neighboring gene microRNA 6858

    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?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of ATP6AP1 by shRNA significantly inhibits HIV-1 replication in CD4+ T-cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Genome-wide shRNA screening identifies ATP6AP1, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC129781

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small GTPase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in cellular iron ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to increased oxygen levels IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in establishment of organelle localization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pH reduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of ERK1 and ERK2 cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of bone resorption ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of exocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of osteoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of osteoclast development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cellular pH IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    V-type proton ATPase subunit S1
    Names
    ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1
    ATPase, H+ transporting, lysosomal accessory protein 1
    ATPase, H+ transporting, lysosomal interacting protein 1
    H-ATPase subunit
    V-ATPase Ac45 subunit
    V-ATPase S1 accessory protein
    V-ATPase subunit S1
    X-associated protein 3
    epididymis secretory sperm binding protein
    protein XAP-3
    vacuolar ATPase subunit S1
    vacuolar proton pump subunit S1
    NP_001174.2
    XP_011529481.1

    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_052807.1 RefSeqGene

      Range
      5046..12885
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001183.6NP_001174.2  V-type proton ATPase subunit S1 precursor

      See identical proteins and their annotated locations for NP_001174.2

      Status: REVIEWED

      Source sequence(s)
      AK075284, AK289452
      Consensus CDS
      CCDS35451.1
      UniProtKB/Swiss-Prot
      Q15904
      Related
      ENSP00000358777.2, ENST00000369762.7
      Conserved Domains (1) summary
      pfam05827
      Location:321468
      ATP-synt_S1; Vacuolar ATP synthase subunit S1 (ATP6S1)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

      Range
      154428669..154436516
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531179.1XP_011529481.1  V-type proton ATPase subunit S1 isoform X1

      See identical proteins and their annotated locations for XP_011529481.1

      UniProtKB/Swiss-Prot
      Q15904
      UniProtKB/TrEMBL
      A0A0C4DGX8
      Related
      ENSP00000482243.2, ENST00000619046.5
      Conserved Domains (1) summary
      pfam05827
      Location:232260
      ATP-synt_S1; Vacuolar ATP synthase subunit S1 (ATP6S1)
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