ATP6V0C
entrez
527
canonical
uniprot
P27449
canonical
ensembl
ENSG00000185883
resolver
ensp
ENSP00000329757
resolver
ensp
ENSP00000600161
resolver
enst
ENST00000330398
resolver
enst
ENST00000930102
resolver
genesymbol
ATP6V0C
resolver
genesymbol_syn
ATP6C
resolver
genesymbol_syn
ATP6L
resolver
genesymbol_syn
ATPL
resolver
hgnc
HGNC:855
resolver
uniprot
Q6FH26
resolver
uniprot_entry
VATL_HUMAN
resolver
uniprot_sec
Q6FH26
resolver
amino_acid_sequence
MSESKSGPEYASFFAVMGASAAMVFSALGAAYGTAKSGTGIAAMSVMRPEQIMKSIIPVVMAGIIAIYGLVVAVLIANSLNDDISLYKSFLQLGAGLSVGLSGLAAGFAIGIVGDAGVRGTAQQPRLFVGMILILIFAEVLGLYGLIVALILSTK
uniprot
proteins
disease_involvement
DISEASE: Epilepsy, early-onset, 3, with or without developmental delay (EPEO3) [MIM:620465]: An autosomal dominant neurologic disorder characterized by various types of seizures with onset in the first months or years of life. Many patients present with febrile seizures and later develop afebrile seizures. Some affected individuals have global developmental delay or regression, impaired intellectual development, poor or absent speech, and motor delay. Additional variable features include hypotonia, gait ataxia, behavioral abnormalities, and anomalies on brain imaging. {ECO:0000269|PubMed:33190975, ECO:0000269|PubMed:35600075, ECO:0000269|PubMed:36074901, ECO:0000269|PubMed:37161035}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Proton-conducting pore forming subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:33065002, PubMed:36074901). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments, and in some cell types, it is targeted to the plasma membrane, where it promotes acidification of the extracellular environment (By similarity). The V-ATPase complex also acts as an activator for mTORC1 on lysosomal membrane by promoting the guanine nucleotide exchange factor (GEF) of the Ragulator complex, thereby enabling mTORC1 recruitment (PubMed:22053050). {ECO:0000250|UniProtKB:P23956, ECO:0000269|PubMed:22053050, ECO:0000269|PubMed:33065002, ECO:0000269|PubMed:36074901}.
uniprot
proteins
mass_dalton
15736
uniprot
proteins
mutagenesis
MUTAGEN 139; /note="E->A: Severely decreased proton transmembrane transport."; /evidence="ECO:0000269|PubMed:36074901
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by RNF182, leading to its degradation via the ubiquitin-proteasome pathway. {ECO:0000269|PubMed:18298843}.
uniprot
proteins
protein_family
V-ATPase proteolipid subunit family
uniprot
proteins
pubmed
11543633
uniprot
proteins
pubmed
1532310
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1709739
uniprot
proteins
pubmed
18298843
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22053050
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
33065002
uniprot
proteins
pubmed
33190975
uniprot
proteins
pubmed
35600075
uniprot
proteins
pubmed
36074901
uniprot
proteins
pubmed
37161035
uniprot
proteins
pubmed
7636472
uniprot
proteins
sequence_length
155
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000250|UniProtKB:P63081}; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:P63081}; Multi-pass membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000305|PubMed:22053050}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 11..33; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 56..76; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 93..114; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 132..152; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins