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Description for Protein ATP6V1B1

ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
3 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 4)
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 B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
3.6.3.14
KEGG - Orthology:
K02147
KEGG - Pathway(s):
hsa00190; hsa01100; hsa04966; hsa05110; hsa05120
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
ATPase H+ transporting lysosomal beta polypeptide 58KD; H(+) transporting two sector ATPase 58KD subunit; H+ ATPase beta 1 subunit; Vacuolar proton pump subunit 3; Vacuolar ATP synthase subunit B, kidney isoform; V-ATPase B1 subunit; Vacuolar proton pump B, isoform 1; Endomembrane proton pump 58 kDa subunit; VATB; VPP3; ATP6B1; ATPase H+ transporting lysosomal 56/58 KD V1 subunit B, isoform 1
Approved Symbol:
ATP6V1B1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 0
No human (de-) phosphorylation sites; 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, with progressive deafness(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01887 Entrez Gene ID: 525 OMIM ID: 192132 Swissprot Accession: P15313;