ATP6V1E1
entrez
529
canonical
uniprot
P36543
canonical
ensembl
ENSG00000131100
resolver
ensp
ENSP00000253413
resolver
ensp
ENSP00000382694
resolver
ensp
ENSP00000382696
resolver
genesymbol
ATP6V1E1
resolver
genesymbol_syn
ATP6E
resolver
genesymbol_syn
ATP6E2
resolver
hgnc
HGNC:857
resolver
uniprot
A8MUE4
resolver
uniprot
A8MUN4
resolver
uniprot
Q53Y06
resolver
uniprot_entry
Q53Y06_HUMAN
resolver
uniprot_entry
VATE1_HUMAN
resolver
uniprot_sec
A8MUE4
resolver
uniprot_sec
A8MUN4
resolver
activity_regulation
ACTIVITY REGULATION: V-ATPase activity on lysosomes is inhibited in response to calorie restriction: deacetylated by SIRT1 downstream of TULP3, leading to (1) V-ATPase complex inhibition on lysosomes and (2) AMP-activated protein kinase (AMPK) activation via the AXIN1-STK11/LKB1 axis. {ECO:0000250|UniProtKB:P50518}.
uniprot
proteins
amino_acid_sequence
MALSDADVQKQIKHMMAFIEQEANEKAEEIDAKAEEEFNIEKGRLVQTQRLKIMEYYEKKEKQIEQQKKIQMSNLMNQARLKVLRARDDLITDLLNEAKQRLSKVVKDTTRYQVLLDGLVLQGLYQLLEPRMIVRCRKQDFPLVKAAVQKAIPMYKIATKNDVDVQIDQESYLPEDIAGGVEIYNGDRKIKVSNTLESRLDLIAQQMMPEVRGALFGANANRKFLD
uniprot
proteins
disease_involvement
DISEASE: Cutis laxa, autosomal recessive, 2C (ARCL2C) [MIM:617402]: A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2C patients exhibit severe hypotonia as well as cardiovascular involvement. {ECO:0000269|PubMed:28065471}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Subunit of the V1 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:32001091, PubMed:33065002). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it promotes acidification of the extracellular environment (PubMed:32001091). 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, PubMed:39695235). {ECO:0000269|PubMed:22053050, ECO:0000269|PubMed:33065002, ECO:0000269|PubMed:39695235, ECO:0000303|PubMed:32001091}.
uniprot
proteins
mass_dalton
26145
uniprot
proteins
post_translational_modification
PTM: Acetylation at Lys-52, Lys-99 and Lys-191 regulates the activity of the V-ATPase complex. Deacetylation at Lys-52, Lys-99 and Lys-191 by SIRT1 in response to calorie restriction inhibits the V-ATPase complex on lysosomes and promotes AMPK activation via the AXIN1-STK11/LKB1 axis. {ECO:0000250|UniProtKB:P50518}.
uniprot
proteins
protein_family
V-ATPase E subunit family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
11399750
uniprot
proteins
pubmed
12036578
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
1533641
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20717956
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22053050
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28065471
uniprot
proteins
pubmed
29993276
uniprot
proteins
pubmed
32001091
uniprot
proteins
pubmed
33065002
uniprot
proteins
pubmed
39695235
uniprot
proteins
pubmed
8004105
uniprot
proteins
pubmed
8250920
uniprot
proteins
sequence_length
226
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:29993276}; Peripheral membrane protein {ECO:0000305}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:Q6PCU2}; Peripheral membrane protein {ECO:0000305}. Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000250|UniProtKB:Q6PCU2}; Peripheral membrane protein {ECO:0000305}. Lysosome membrane {ECO:0000305|PubMed:39695235}; Peripheral membrane protein {ECO:0000305}.
uniprot
proteins