ATP6V1C2

ATP6V1C2
Identifiers
Aliases	ATP6V1C2 , ATP6C2, VMA5, ATPase H+ transporting V1 subunit C2
External IDs	OMIM: 618070 MGI: 1916025 HomoloGene: 15866 GeneCards: ATP6V1C2
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2p25.1 Start 10,721,100 bp [1] End 10,785,110 bp [1]
Gene location (Mouse) Chr. Chromosome 12 (mouse) [2] Band 12|12 A1.1 Start 17,334,722 bp [2] End 17,379,360 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of abdomen secondary oocyte minor salivary gland anterior pituitary kidney parotid gland placenta vulva human penis corpus epididymis Top expressed in lip esophagus olfactory epithelium left lung left lung lobe right lung right lung lobe skin of back morula stria vascularis More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding protein dimerization activity proton transmembrane transporter activity P-type proton-exporting transporter activity proton-transporting ATPase activity, rotational mechanism Cellular component proton-transporting V-type ATPase, V1 domain lysosomal membrane cytosol extracellular exosome vacuolar proton-transporting V-type ATPase, V1 domain Biological process positive regulation of Wnt signaling pathway insulin receptor signaling pathway ion transmembrane transport ion transport transferrin transport regulation of macroautophagy phagosome acidification transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 245973 68775 Ensembl ENSG00000143882 ENSMUSG00000020566 UniProt Q8NEY4 Q99L60 RefSeq (mRNA) NM_001039362 NM_144583 NM_001159632 NM_133699 RefSeq (protein) NP_001034451 NP_653184 NP_001153104 NP_598460 Location (UCSC) Chr 2: 10.72 – 10.79 Mb Chr 12: 17.33 – 17.38 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

V-type proton ATPase subunit C 2 is an enzyme that in humans is encoded by the ATP6V1C2 gene. ^{[5] [6]}

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, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000143882 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020566 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Smith AN, Borthwick KJ, Karet FE (Oct 2002). "Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis". Gene. 297 (1–2): 169–77. doi:10.1016/S0378-1119(02)00884-3. PMID   12384298.
6. "Entrez Gene: ATP6V1C2 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2".

External links

• Human ATP6V1C2 genome location and ATP6V1C2 gene details page in the UCSC Genome Browser .