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TRANSPORTERS FROM HUMANS:
Transporter Information:
Name: ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2
Symbol: ATP6V1C2
TC: 3.A.2.2.3
Locations: 2p25.1
Aliases: VMA5, ATP6C2
GenBank: AY039759
Swiss-Prot: Q8NEY4
Accession Number: NM_144583
Old Name: ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2
GDBGDB:11508947
LocusLink245973
PubMed (12384298): Smith AN, Borthwick KJ, Karet FE. Molecular cloning and characterization of novel tissue-specific isoforms of thehuman vacuolar H(+)-ATPase C, G and d subunits, and their evaluation inautosomal recessive distal renal tubular acidosis.Gene. 2002 Sep 4;297(1-2):169-77. PMID: 12384298 [PubMed - indexed for MEDLINE]

Several of the 13 subunits comprising mammalian H(+)-ATPases have multiple isoforms, encoded by separate genes and with differing tissue expression patterns, which may play an important role in the intracellular localization and activity of H(+)-ATPases. Here we report the cloning of three previously uncharacterized human genes, ATP6V1C2, ATP6V1G3 and ATP6V0D2, encoding novel H(+)-ATPase subunit isoforms C2, G3 and d2, respectively. We demonstrate that these novel genes are expressed in kidney and few other tissues, and confirm previous reports that the C1, G1 and d1 isoforms are ubiquitously expressed, while G2 is brain-specific. Previously we have shown that mutations in two kidney-specific genes, ATP6V1B1 and ATP6V0A4, encoding the H(+)-ATPase B1 and a4 subunit isoforms, cause recessive distal renal tubular acidosis (dRTA). As the genes reported here are expressed mainly in kidney, we assessed their candidacy as causative genes for recessive dRTA in eight kindreds unlinked to either known disease locus. Although no potential disease-causing mutations were seen in this cohort, this does not rule out a role for these genes in other families. The identification of these three novel tissue-specific isoforms supports the hypothesis that subunit differences may play a key role in the structure, site and function of H(+)-ATPases within the cell.

>Q8NEY4|VATC2_HUMAN Vacuolar ATP synthase subunit C 2 - Homo sapiens (Human).
MSEFWLISAPGDKENLQALERMNTVTSKSNLSYNTKFAIPDFKVGTLDSLVGLSDELGKLDTFAESLIRRMAQSVVEVME
DSKGKVQEHLLANGVDLTSFVTHFEWDMAKYPVKQPLVSVVDTIAKQLAQIEMDLKSRTAAYNTLKTNLENLEKKSMGNL
FTRTLSDIVSKEDFVLDSEYLVTLLVIVPKPNYSQWQKTYESLSDMVVPRSTKLITEDKEGGLFTVTLFRKVIEDFKTKA
KENKFTVREFYYDEKEIEREREEMARLLSDKKQQYQTSCVALKKGSSTFPDHKVKVTPLGNPDRPAAGQTDRERESEGEG
EGPLLRWLKVNFSEAFIAWIHIKALRVFVESVLRYGLPVNFQAVLLQPHKKSSTKRLREVLNSVFRHLDEVAATSILDAS
VEIPGLQLNNQDYFPYVYFHIDLSLLD