ATP6V1C1

Chr 8

ATPase H+ transporting V1 subunit C1

Also known as: ATP6C, ATP6D, VATC, Vma5

NCBI Gene: 528 ENSG00000155097 UniProt: P21283 OMIM: 603097

This protein is a subunit of vacuolar ATPase (V-ATPase) that hydrolyzes ATP to acidify intracellular compartments, which is essential for protein sorting, endocytosis, and synaptic vesicle function. Mutations cause autosomal recessive neuronal ceroid lipofuscinosis, a progressive neurodegenerative disorder affecting the brain with childhood onset. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

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. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.77

LOEUF

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Mechanism