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Description for Protein ATP6V0A4

ATPase, H+ transporting, lysosomal V0 subunit a4
1 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent 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. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.6.3.14
    KEGG - Orthology:
    K02154
    KEGG - Pathway(s):
    hsa00190; hsa01100; hsa04142; hsa04966; hsa05110; hsa05120
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    ATPase H+ transporting lysosomal noncatalytic accessory protein 1B; ATP6N1B; Vacuolar protein pump subunit 2; ATP6N2; VPP2; Vacuolar proton pump 116 kDa accessory subunit; H(+) transporting two sector ATPase noncatalytic accessory protein 1B; MGC130016; MGC130017; RDRTA2; RTADR; RTA1C; Vph1; Stv1; a4; ATPase, H+ transporting, lysosomal vacuolar proton pump non-catalytic accessory protein 2 38kD; Vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform; V-ATPase 116-kDa isoform a4
    Approved Symbol:
    ATP6V0A4
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 4
    Human (de-) phosphorylation sites: 4; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Renal tubular acidosis, distal, autosomal recessive(Pd);
  • Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 6
  • Isoform 2 : 6
  • Isoform 1 : 6
    • Additional Identifiers:

    HPRD: 05576 Entrez Gene ID: 50617 OMIM ID: 605239 Swissprot Accession: A4D1R4; Q9HBG4; Q32M47;