ATP6V1C2

Protein identityUniProt · HPA

UniProt accession

Q8NEY4

Gene

ATP6V1C2

Ensembl

ENSG00000143882

Chromosome

2

Canonical length

427 aa

Protein class

Metabolic proteins, Predicted intracellular proteins, Transporters

Subcellular location

Mitochondria

OverviewNCBI Gene

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle 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,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

427 residues, UniProt reviewed canonical sequence.

>Q8NEY4|ATP6V1C2
     1  MSEFWLISAP GDKENLQALE RMNTVTSKSN LSYNTKFAIP DFKVGTLDSL VGLSDELGKL
    61  DTFAESLIRR MAQSVVEVME DSKGKVQEHL LANGVDLTSF VTHFEWDMAK YPVKQPLVSV
   121  VDTIAKQLAQ IEMDLKSRTA AYNTLKTNLE NLEKKSMGNL FTRTLSDIVS KEDFVLDSEY
   181  LVTLLVIVPK PNYSQWQKTY ESLSDMVVPR STKLITEDKE GGLFTVTLFR KVIEDFKTKA
   241  KENKFTVREF YYDEKEIERE REEMARLLSD KKQQYQTSCV ALKKGSSTFP DHKVKVTPLG
   301  NPDRPAAGQT DRERESEGEG EGPLLRWLKV NFSEAFIAWI HIKALRVFVE SVLRYGLPVN
   361  FQAVLLQPHK KSSTKRLREV LNSVFRHLDE VAATSILDAS VEIPGLQLNN QDYFPYVYFH
   421  IDLSLLD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATP6V1C2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.32

Highest tissue expression

97 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATP6V1C2.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 87 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Distal renal tubular acidosis

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.94

gnomAD pLI

0

gnomAD missense Z

0.83

DepMap mean gene effect

-0.02

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• positive regulation of Wnt signaling pathway
• regulation of macroautophagy

Molecular functions

• identical protein binding
• proton-transporting ATPase activity, rotational mechanism

Cellular components

• cytosol
• extracellular exosome
• lysosomal membrane
• vacuolar proton-transporting V-type ATPase, V1 domain

Protein domainsUniProt · Pfam · InterPro

• ATPase, V1 complex, subunit C
• Vacuolar ATP synthase subunit C superfamily
• V-ATPase subunit C

KeywordsUniProt

• Hydrogen ion transport
• Ion transport
• Transport

InteractionsUniProt · HPA

Protein binding partners of ATP6V1C2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ATP6V1A
• ATP6V1B2
• ATP6V1G1