ATP6V0C
V-type proton ATPase 16 kDa proteolipid subunit c
Also known as: ATP6C, ATP6L, ATPL, VATL, VATL_HUMAN, Vma3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P27449
- Gene
- ATP6V0C
- Ensembl
- ENSG00000185883
- Chromosome
- 16
- Canonical length
- 155 aa
- Protein class
- Metabolic proteins, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Vesicles
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 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. This gene encodes the V0 subunit c. Alternative splicing results in transcript variants. Pseudogenes have been identified on chromosomes 6 and 17. [provided by RefSeq, Nov 2010]
Canonical amino-acid sequenceUniProt
155 residues, UniProt reviewed canonical sequence.
>P27449|ATP6V0C
1 MSESKSGPEY ASFFAVMGAS AAMVFSALGA AYGTAKSGTG IAAMSVMRPE QIMKSIIPVV
61 MAGIIAIYGL VVAVLIANSL NDDISLYKSF LQLGAGLSVG LSGLAAGFAI GIVGDAGVRG
121 TAQQPRLFVG MILILIFAEV LGLYGLIVAL ILSTKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ATP6V0C 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
- Intracellular
- Secreted
- No
- Transmembrane segments
- 4
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 598 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 598 nTPM
- cerebellum: 467 nTPM
- hypothalamus: 419 nTPM
- kidney: 411 nTPM
- basal ganglia: 401 nTPM
- hippocampal formation: 391 nTPM
Single-cell type
- other brain neurons: 308 nCPM
- brain inhibitory neurons: 239 nCPM
- brain excitatory neurons: 200 nCPM
- oligodendrocytes: 113 nCPM
- microglia: 83 nCPM
- oligodendrocyte progenitor cells: 81 nCPM
Immune cell
- eosinophil: 204 nTPM
- non-classical monocyte: 173 nTPM
- neutrophil: 167 nTPM
- intermediate monocyte: 140 nTPM
- classical monocyte: 124 nTPM
- plasmacytoid DC: 105 nTPM
Brain region
- hypothalamus: 692 nTPM
- cerebral cortex: 689 nTPM
- hippocampal formation: 633 nTPM
- basal ganglia: 628 nTPM
- thalamus: 583 nTPM
- pons: 579 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ATP6V0C.
Disease | AllUniProt
Conditions ATP6V0C is implicated in, by any mechanism.
- Epilepsy, early-onset, 3, with or without developmental delay (EPEO3) MIM:620465
Disease | GeneticClinVar
19 pathogenic / likely-pathogenic of 55 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY
- Epilepsy, early-onset, 3, with or without developmental delay
- Seizure
- See cases
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)
- 0.67
- gnomAD pLI
- 0.74
- gnomAD missense Z
- 2.99
- DepMap mean gene effect
- -2.18
- DepMap dependency class
- pan
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
- endosomal lumen acidification
- Golgi lumen acidification
- intracellular pH reduction
- lysosomal lumen acidification
- positive regulation of Wnt signaling pathway
- proton transmembrane transport
- regulation of macroautophagy
- synaptic vesicle lumen acidification
- vacuolar acidification
Molecular functions
- proton-transporting ATP synthase activity, rotational mechanism
- proton-transporting ATPase activity, rotational mechanism
- ubiquitin protein ligase binding
Cellular components
- azurophil granule membrane
- clathrin-coated vesicle membrane
- endosome membrane
- extracellular exosome
- ficolin-1-rich granule membrane
- focal adhesion
- Golgi membrane
- lysosomal membrane
- membrane
- phagocytic vesicle membrane
- plasma membrane
- proton-transporting V-type ATPase complex
- synaptic vesicle membrane
- tertiary granule membrane
- vacuolar proton-transporting V-type ATPase, V0 domain
Protein domainsUniProt · Pfam · InterPro
- V-ATPase proteolipid subunit
- V-ATPase proteolipid subunit C-like domain
- F/V-ATP synthase subunit C superfamily
- ATP synthase subunit C
- V-ATPase proteolipid subunit C, eukaryotic
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ATP6V0C in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ATP6V0C as an antibody target. Whether an autoantibody or antibody against ATP6V0C could matter depends on whether native ATP6V0C is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ATP6V0C is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ATP6V0C as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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