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) [1] Band 8q22.3 Start 103,021,063 bp [1] End 103,073,051 bp [1]
Gene location (Mouse) Chr. Chromosome 15 (mouse) [2] Band 15|15 B3.1 Start 38,662,177 bp [2] End 38,692,690 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm prefrontal cortex islet of Langerhans superior frontal gyrus middle temporal gyrus Brodmann area 23 pons Brodmann area 9 parietal lobe postcentral gyrus Top expressed in hippocampus proper yolk sac hypothalamus superior frontal gyrus cerebellar cortex olfactory bulb proximal tubule secondary oocyte kidney neural tube More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transporter activity proton-transporting ATPase activity, rotational mechanism protein binding proton transmembrane transporter activity 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 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 Species Human Mouse Entrez 528 66335 Ensembl ENSG00000155097 ENSMUSG00000022295 UniProt P21283 Q9Z1G3 RefSeq (mRNA) NM_001695 NM_001007254 NM_025494 RefSeq (protein) NP_001686 NP_079770 Location (UCSC) Chr 8: 103.02 – 103.07 Mb Chr 15: 38.66 – 38.69 Mb PubMed search [3] [4]
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

1. GRCh38: Ensembl release 89: ENSG00000155097 - Ensembl, May 2017
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.
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.
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.
7. "Entrez Gene: ATP6V1C1 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1".
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.

Further reading

• Finbow ME, Harrison MA (1997). "The vacuolar H+-ATPase: a universal proton pump of eukaryotes". Biochem. J. 324 (3): 697–712. doi:10.1042/bj3240697. PMC   1218484 . PMID   9210392.
• Stevens TH, Forgac M (1998). "Structure, function and regulation of the vacuolar (H+)-ATPase". Annu. Rev. Cell Dev. Biol. 13: 779–808. doi:10.1146/annurev.cellbio.13.1.779. PMID   9442887.
• Nelson N, Harvey WR (1999). "Vacuolar and plasma membrane proton-adenosinetriphosphatases". Physiol. Rev. 79 (2): 361–85. doi:10.1152/physrev.1999.79.2.361. PMID   10221984. S2CID   1477911.
• Forgac M (1999). "Structure and properties of the vacuolar (H+)-ATPases". J. Biol. Chem. 274 (19): 12951–4. doi: 10.1074/jbc.274.19.12951 . PMID   10224039.
• Kane PM (1999). "Introduction: V-ATPases 1992-1998". J. Bioenerg. Biomembr. 31 (1): 3–5. doi:10.1023/A:1001884227654. PMID   10340843.
• Wieczorek H, Brown D, Grinstein S, et al. (1999). "Animal plasma membrane energization by proton-motive V-ATPases". BioEssays. 21 (8): 637–48. doi:10.1002/(SICI)1521-1878(199908)21:8<637::AID-BIES3>3.0.CO;2-W. PMID   10440860. S2CID   23505139.
• Nishi T, Forgac M (2002). "The vacuolar (H+)-ATPases--nature's most versatile proton pumps". Nat. Rev. Mol. Cell Biol. 3 (2): 94–103. doi: 10.1038/nrm729 . PMID   11836511. S2CID   21122465.
• Kawasaki-Nishi S, Nishi T, Forgac M (2003). "Proton translocation driven by ATP hydrolysis in V-ATPases". FEBS Lett. 545 (1): 76–85. doi:10.1016/S0014-5793(03)00396-X. PMID   12788495. S2CID   10507213.
• Morel N (2004). "Neurotransmitter release: the dark side of the vacuolar-H+ATPase". Biol. Cell. 95 (7): 453–7. doi: 10.1016/S0248-4900(03)00075-3 . PMID   14597263. S2CID   17519696.
• Nelson H, Mandiyan S, Noumi T, et al. (1990). "Molecular cloning of cDNA encoding the C subunit of H(+)-ATPase from bovine chromaffin granules". J. Biol. Chem. 265 (33): 20390–3. doi: 10.1016/S0021-9258(17)30516-1 . PMID   2147024.
• Xu XR, Huang J, Xu ZG, et al. (2002). "Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver". Proc. Natl. Acad. Sci. U.S.A. 98 (26): 15089–94. Bibcode:2001PNAS...9815089X. doi: 10.1073/pnas.241522398 . PMC   64988 . PMID   11752456.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.

External links

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