ATP6V1C1

ATP6V1C1
Identifiers
Aliases	ATP6V1C1, ATP6C, ATP6D, VATC, Vma5, ATPase H+ transporting V1 subunit C1
External IDs	OMIM: 603097 MGI: 1913585 HomoloGene: 1281 GeneCards: ATP6V1C1
Gene location (Human)
Chr.	Chromosome 8 (human)
End	103,073,051 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	38,692,690 bp
RNA expression pattern
	Top expressed in
	corpus callosum; ; prefrontal cortex; ; superior frontal gyrus; ; dorsolateral prefrontal cortex; ; cerebral cortex; ; caudate nucleus; ; brain; ; Brodmann area 46;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	transporter activity; proton-transporting ATPase activity, rotational mechanism; GO:0001948 protein binding; proton transmembrane transporter activity; GO:0036442 P-type proton-exporting transporter activity;
Cellular component	cytoplasm; proton-transporting V-type ATPase, V1 domain; cytosol; plasma membrane; proton-transporting two-sector ATPase complex; apical part of cell; lysosomal membrane; extracellular exosome; GO:0016023 cytoplasmic vesicle; vacuolar proton-transporting V-type ATPase, V1 domain;
Biological process	insulin receptor signaling pathway; transferrin transport; ion transport; ion transmembrane transport; regulation of macroautophagy; phagosome acidification; transport; proton transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	528
	66335
	ENSG00000155097
	ENSMUSG00000022295
	P21283
	Q9Z1G3
	NM_001695; NM_001007254
	NM_025494
	NP_001686
	NP_079770
	Wikidata
View/Edit Human	View/Edit Mouse

V-type proton ATPase subunit C 1 is an enzyme that in humans is encoded by the ATP6V1C1 gene.^[5]^[6]^[7]

This 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. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene is one of two genes that encode the V1 domain C subunit proteins and is found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously, this gene was designated ATP6D.^[7]

In melanocytic cells ATP6V1C1 gene expression may be regulated by MITF.^[8]

References[]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000155097 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000022295 - 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.
^ van Hille B, Vanek M, Richener H, Green JR, Bilbe G (Jan 1994). "Cloning and tissue distribution of subunits C, D, and E of the human vacuolar H(+)-ATPase". Biochem Biophys Res Commun. 197 (1): 15–21. doi:10.1006/bbrc.1993.2434. PMID 8250920.
^ Smith AN, Lovering RC, Futai M, Takeda J, Brown D, Karet FE (Oct 2003). "Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes". Mol Cell. 12 (4): 801–3. doi:10.1016/S1097-2765(03)00397-6. PMID 14580332.
^ ^a ^b "Entrez Gene: ATP6V1C1 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1".
^ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. S2CID 24698373.

External links[]

Human ATP6V1C1 genome location and ATP6V1C1 gene details page in the UCSC Genome Browser.

This article on a gene on human chromosome 8 is a stub. You can help Wikipedia by .

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000155097 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000022295 - 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.

[pmid8250920-5] van Hille B, Vanek M, Richener H, Green JR, Bilbe G (Jan 1994). "Cloning and tissue distribution of subunits C, D, and E of the human vacuolar H(+)-ATPase". Biochem Biophys Res Commun. 197 (1): 15–21. doi:10.1006/bbrc.1993.2434. PMID 8250920.

[pmid14580332-6] Smith AN, Lovering RC, Futai M, Takeda J, Brown D, Karet FE (Oct 2003). "Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes". Mol Cell. 12 (4): 801–3. doi:10.1016/S1097-2765(03)00397-6. PMID 14580332.

[entrez-7] "Entrez Gene: ATP6V1C1 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1".

[pmid19067971-8] Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. S2CID 24698373.

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ATP6V1C1

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