ATP6V1C1
V-type proton ATPase subunit C 1
Also known as: ATP6C, ATP6D, VATC, VATC1_HUMAN, Vma5
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P21283
- Gene
- ATP6V1C1
- Ensembl
- ENSG00000155097
- Chromosome
- 8
- Canonical length
- 382 aa
- Protein class
- FDA approved drug targets, Metabolic proteins, Predicted intracellular proteins, Transporters
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
382 residues, UniProt reviewed canonical sequence.
>P21283|ATP6V1C1
1 MTEFWLISAP GEKTCQQTWE KLHAATSKNN NLAVTSKFNI PDLKVGTLDV LVGLSDELAK
61 LDAFVEGVVK KVAQYMADVL EDSKDKVQEN LLANGVDLVT YITRFQWDMA KYPIKQSLKN
121 ISEIIAKGVT QIDNDLKSRA SAYNNLKGNL QNLERKNAGS LLTRSLAEIV KKDDFVLDSE
181 YLVTLLVVVP KLNHNDWIKQ YETLAEMVVP RSSNVLSEDQ DSYLCNVTLF RKAVDDFRHK
241 ARENKFIVRD FQYNEEEMKA DKEEMNRLST DKKKQFGPLV RWLKVNFSEA FIAWIHVKAL
301 RVFVESVLRY GLPVNFQAML LQPNKKTLKK LREVLHELYK HLDSSAAAII DAPMDIPGLN
361 LSQQEYYPYV YYKIDCNLLE FKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ATP6V1C1 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
- 0
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 56 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 56 nTPM
- kidney: 48 nTPM
- parathyroid gland: 37 nTPM
- thyroid gland: 35 nTPM
- retina: 34 nTPM
- adrenal gland: 30 nTPM
Single-cell type
- neutrophils: 539 nCPM
- late spermatids: 279 nCPM
- early spermatids: 196 nCPM
- hofbauer cells: 172 nCPM
- monocytes: 142 nCPM
- macrophages: 120 nCPM
Immune cell
- neutrophil: 50 nTPM
- intermediate monocyte: 45 nTPM
- non-classical monocyte: 43 nTPM
- eosinophil: 38 nTPM
- classical monocyte: 31 nTPM
- myeloid DC: 29 nTPM
Brain region
- cerebral cortex: 87 nTPM
- basal ganglia: 82 nTPM
- pons: 73 nTPM
- hippocampal formation: 68 nTPM
- hypothalamus: 67 nTPM
- white matter: 61 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ATP6V1C1.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 59 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
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)
- 0.77
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.71
- DepMap mean gene effect
- -1.09
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 20% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- rotational mechanism
- proton-transporting ATPase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ATP6V1C1 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 ATP6V1C1 as an antibody target. Whether an autoantibody or antibody against ATP6V1C1 could matter depends on whether native ATP6V1C1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ATP6V1C1 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 ATP6V1C1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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