ATP6V1C1

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ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1
Identifiers
Symbols ATP6V1C1 ; ATP6C; ATP6D; VATC; Vma5
External IDs OMIM603097 MGI1913585 HomoloGene1281 GeneCards: ATP6V1C1 Gene
EC number 3.6.3.14
RNA expression pattern
PBB GE ATP6V1C1 202872 at tn.png
PBB GE ATP6V1C1 202873 at tn.png
PBB GE ATP6V1C1 202874 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 528 66335
Ensembl ENSG00000155097 ENSMUSG00000022295
UniProt P21283 Q9Z1G3
RefSeq (mRNA) NM_001007254 NM_025494
RefSeq (protein) NP_001686 NP_079770
Location (UCSC) Chr 8:
104.03 – 104.09 Mb
Chr 15:
38.66 – 38.69 Mb
PubMed search [1] [2]

V-type proton ATPase subunit C 1 is an enzyme that in humans is encoded by the ATP6V1C1 gene.[1][2][3]

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.[3]

In melanocytic cells ATP6V1C1 gene expression may be regulated by MITF.[4]

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: ATP6V1C1 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1". 
  4. ^ 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. 

Further reading[edit]