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MGP005065

Record overview

MGPD IDMGP005065
Gene ID50617
SpeciesHomo sapiens (Human)
Gene NameATPase, H+ transporting, lysosomal V0 subunit a4
Gene Symbol ATP6V0A4
SynonymsA4; STV1; VPH1; VPP2; RTA1C; RTADR; ATP6N2; RDRTA2; ATP6N1B;
Alternate namesV-type proton ATPase 116 kDa subunit a isoform 4; ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B; ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 2 (38kD); H(+)-transporting two-sector ATPase, noncatalytic accessory protein 1B; V-ATPase 116 kDa; V-type proton ATPase 116 kDa subunit a; vacuolar proton pump 116 kDa accessory subunit; vacuolar proton pump, subunit 2; vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform;
Chromosome7
Map Location7q34
SummaryThis 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, Jul 2008]
OrthologsView orthologs and multiple alignments for ATP6V0A4

Proteins

V-type proton ATPase 116 kDa subunit a isoform 4
Refseq ID:NP_065683
Protein GI:85386053
UniProt ID:Q9HBG4
mRNA ID:NM_020632
Length:840
RefSeq Status:
MVSVFRSEEMCLSQLFLQVEAAYCCVAELGELGLVQFKDLNMNVNSFQRKFVNEVRRCESLERILRFLEDEMQNEIVVQLLEKSPLTPLPREMITLETVL
EKLEGELQEANQNQQALKQSFLELTELKYLLKKTQDFFETETNLADDFFTEDTSGLLELKAVPAYMTGKLGFIAGVINRERMASFERLLWRICRGNVYLK
FSEMDAPLEDPVTKEEIQKNIFIIFYQGEQLRQKIKKICDGFRATVYPCPEPAVERREMLESVNVRLEDLITVITQTESHRQRLLQEAAANWHSWLIKVQ
KMKAVYHILNMCNIDVTQQCVIAEIWFPVADATRIKRALEQGMELSGSSMAPIMTTVQSKTAPPTFNRTNKFTAGFQNIVDAYGVGSYREINPAPYTIIT
FPFLFAVMFGDCGHGTVMLLAALWMILNERRLLSQKTDNEIWNTFFHGRYLILLMGIFSIYTGLIYNDCFSKSLNIFGSSWSVQPMFRNGTWNTHVMEES
LYLQLDPAIPGVYFGNPYPFGIDPIWNLASNKLTFLNSYKMKMSVILGIVQMVFGVILSLFNHIYFRRTLNIILQFIPEMIFILCLFGYLVFMIIFKWCC
FDVHVSQHAPSILIHFINMFLFNYSDSSNAPLYKHQQEVQSFFVVMALISVPWMLLIKPFILRASHRKSQLQASRIQEDATENIEGDSSSPSSRSGQRTS
ADTHGALDDHGEEFNFGDVFVHQAIHTIEYCLGCISNTASYLRLWALSLAHAQLSEVLWTMVMNSGLQTRGWGGIVGVFIIFAVFAVLTVAILLIMEGLS
AFLHALRLHWVEFQNKFYVGDGYKFSPFSFKHILDGTAEE
 
V-type proton ATPase 116 kDa subunit a isoform 4
Refseq ID:NP_570855
Protein GI:85386056
UniProt ID:Q9HBG4
mRNA ID:NM_130840
Length:840
RefSeq Status:
Protein sequence is identical to GI:85386053 (mRNA isoform)
 
V-type proton ATPase 116 kDa subunit a isoform 4
Refseq ID:NP_570856
Protein GI:85386547
UniProt ID:Q9HBG4
mRNA ID:NM_130841
Length:840
RefSeq Status:
Protein sequence is identical to GI:85386053 (mRNA isoform)
 
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