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]
End	10,785,110 bp[1]
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)[2]
End	17,329,359 bp[2]
Gene ontology
Molecular function	• GO:0001948 protein binding; • protein dimerization activity; • hydrogen ion transmembrane transporter activity; • GO:0036442 hydrogen-exporting ATPase activity, phosphorylative mechanism; • 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
	245973
	68775
	ENSG00000143882
	ENSMUSG00000020566
	Q8NEY4
	Q99L60
	NM_001039362; NM_144583
	NM_001159632; NM_133699
	NP_001034451; NP_653184
	NP_001153104; NP_598460
	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

GRCh38: Ensembl release 89: ENSG00000143882 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000020566 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
"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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000143882 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid12384298-5] 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.

[entrez-6] "Entrez Gene: ATP6V1C2 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2".