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MGP000266

Record overview

MGPD IDMGP000266
Gene ID525
SpeciesHomo sapiens (Human)
Gene NameATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
Gene Symbol ATP6V1B1
SynonymsVATB; VMA2; VPP3; RTA1B; ATP6B1;
Alternate namesV-type proton ATPase subunit B, kidney isoform; V-ATPase B1 subunit; V-ATPase subunit B 1; vacuolar proton pump 3; H+-ATPase beta 1 subunit; vacuolar proton pump, subunit 3; vacuolar proton pump subunit B 1; endomembrane proton pump 58 kDa subunit; H(+)-transporting two-sector ATPase, 58kD subunit;
Chromosome2
Map Location2p13.1
SummaryThis 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, Jul 2008]
OrthologsView orthologs and multiple alignments for ATP6V1B1

Proteins

V-type proton ATPase subunit B, kidney isoform
Refseq ID:NP_001683
Protein GI:19913426
UniProt ID:P15313
mRNA ID:NM_001692
Length:513
RefSeq Status:
MAMEIDSRPGGLPGSSCNLGAAREHMQAVTRNYITHPRVTYRTVCSVNGPLVVLDRVKFAQYAEIVHFTLPDGTQRSGQVLEVAGTKAIVQVFEGTSGID
ARKTTCEFTGDILRTPVSEDMLGRVFNGSGKPIDKGPVVMAEDFLDINGQPINPHSRIYPEEMIQTGISPIDVMNSIARGQKIPIFSAAGLPHNEIAAQI
CRQAGLVKKSKAVLDYHDDNFAIVFAAMGVNMETARFFKSDFEQNGTMGNVCLFLNLANDPTIERIITPRLALTTAEFLAYQCEKHVLVILTDMSSYAEA
LREVSAAREEVPGRRGFPGYMYTDLATIYERAGRVEGRGGSITQIPILTMPNDDITHPIPDLTGFITEGQIYVDRQLHNRQIYPPINVLPSLSRLMKSAI
GEGMTRKDHGDVSNQLYACYAIGKDVQAMKAVVGEEALTSEDLLYLEFLQKFEKNFINQGPYENRSVFESLDLGWKLLRIFPKEMLKRIPQAVIDEFYSR
EGALQDLAPDTAL
 
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