ATP6V1C1

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ATP6V1C1
Identifiers
Aliases ATP6V1C1, ATP6C, ATP6D, VATC, Vma5, ATPase H+ transporting V1 subunit C1
External IDs MGI: 1913585 HomoloGene: 1281 GeneCards: 528
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
Ensembl
UniProt
RefSeq (mRNA)

NM_001695
NM_001007254

NM_025494

RefSeq (protein)

NP_001686.1

NP_079770.2

Location (UCSC) Chr 8: 103.02 – 103.07 Mb Chr 15: 38.66 – 38.69 Mb
PubMed search [1] [2]
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.[3][4][5]

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.[5]

In melanocytic cells ATP6V1C1 gene expression may be regulated by MITF.[6]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: ATP6V1C1 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1". 
  6. ^ 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]