ATP6V0A1
entrez
535
canonical
uniprot
Q93050
canonical
ensembl
ENSG00000033627
resolver
ensp
ENSP00000264649
resolver
ensp
ENSP00000342951
resolver
ensp
ENSP00000377415
resolver
ensp
ENSP00000443991
resolver
ensp
ENSP00000466767
resolver
ensp
ENSP00000466852
resolver
ensp
ENSP00000466878
resolver
ensp
ENSP00000468177
resolver
ensp
ENSP00000515525
resolver
ensp
ENSP00000515526
resolver
ensp
ENSP00000515530
resolver
ensp
ENSP00000515535
resolver
ensp
ENSP00000544998
resolver
ensp
ENSP00000544999
resolver
ensp
ENSP00000545000
resolver
ensp
ENSP00000545001
resolver
ensp
ENSP00000545006
resolver
ensp
ENSP00000607415
resolver
ensp
ENSP00000641042
resolver
ensp
ENSP00000649642
resolver
ensp
ENSP00000649643
resolver
ensp
ENSP00000649646
resolver
ensp
ENSP00000717972
resolver
ensp
ENSP00000728055
resolver
ensp
ENSP00000728059
resolver
ensp
ENSP00000728062
resolver
enst
ENST00000537728
resolver
enst
ENST00000585525
resolver
enst
ENST00000586201
resolver
enst
ENST00000588138
resolver
enst
ENST00000592324
resolver
enst
ENST00000703888
resolver
enst
ENST00000703893
resolver
enst
ENST00000703897
resolver
genesymbol
ATP6V0A1
resolver
genesymbol_syn
ATP6N1
resolver
genesymbol_syn
ATP6N1A
resolver
genesymbol_syn
VPP1
resolver
hgnc
HGNC:865
resolver
uniprot
A0A994J3Z0
resolver
uniprot
A0A994J3Z4
resolver
uniprot
A0A994J3Z9
resolver
uniprot
B7Z2A9
resolver
uniprot
B7Z3B7
resolver
uniprot
B7Z641
resolver
uniprot
F6W8Z0
resolver
uniprot
K7EN36
resolver
uniprot
K7ENA1
resolver
uniprot
K7ENB8
resolver
uniprot
K7ERA6
resolver
uniprot
Q53ET5
resolver
uniprot
Q53X12
resolver
uniprot
Q8N5G7
resolver
uniprot
Q9NSX0
resolver
uniprot_entry
A0A994J3Z0_HUMAN
resolver
uniprot_entry
A0A994J3Z4_HUMAN
resolver
uniprot_entry
A0A994J3Z9_HUMAN
resolver
uniprot_entry
B7Z2A9_HUMAN
resolver
uniprot_entry
B7Z641_HUMAN
resolver
uniprot_entry
F6W8Z0_HUMAN
resolver
uniprot_entry
K7EN36_HUMAN
resolver
uniprot_entry
K7ENA1_HUMAN
resolver
uniprot_entry
K7ENB8_HUMAN
resolver
uniprot_entry
K7ERA6_HUMAN
resolver
uniprot_entry
Q53ET5_HUMAN
resolver
uniprot_entry
Q53X12_HUMAN
resolver
uniprot_entry
VPP1_HUMAN
resolver
uniprot_sec
B7Z3B7
resolver
uniprot_sec
Q8N5G7
resolver
uniprot_sec
Q9NSX0
resolver
amino_acid_sequence
MGELFRSEEMTLAQLFLQSEAAYCCVSELGELGKVQFRDLNPDVNVFQRKFVNEVRRCEEMDRKLRFVEKEIRKANIPIMDTGENPEVPFPRDMIDLEANFEKIENELKEINTNQEALKRNFLELTELKFILRKTQQFFDEMADPDLLEESSSLLEPSEMGRGTPLRLGFVAGVINRERIPTFERMLWRVCRGNVFLRQAEIENPLEDPVTGDYVHKSVFIIFFQGDQLKNRVKKICEGFRASLYPCPETPQERKEMASGVNTRIDDLQMVLNQTEDHRQRVLQAAAKNIRVWFIKVRKMKAIYHTLNLCNIDVTQKCLIAEVWCPVTDLDSIQFALRRGTEHSGSTVPSILNRMQTNQTPPTYNKTNKFTYGFQNIVDAYGIGTYREINPAPYTIITFPFLFAVMFGDFGHGILMTLFAVWMVLRESRILSQKNENEMFSTVFSGRYIILLMGVFSMYTGLIYNDCFSKSLNIFGSSWSVRPMFTYNWTEETLRGNPVLQLNPALPGVFGGPYPFGIDPIWNIATNKLTFLNSFKMKMSVILGIIHMLFGVSLSLFNHIYFKKPLNIYFGFIPEIIFMTSLFGYLVILIFYKWTAYDAHTSENAPSLLIHFINMFLFSYPESGYSMLYSGQKGIQCFLVVVALLCVPWMLLFKPLVLRRQYLRRKHLGTLNFGGIRVGNGPTEEDAEIIQHDQLSTHSEDADEPSEDEVFDFGDTMVHQAIHTIEYCLGCISNTASYLRLWALSLAHAQLSEVLWTMVIHIGLSVKSLAGGLVLFFFFTAFATLTVAILLIMEGLSAFLHALRLHWVEFQNKFYSGTGFKFLPFSFEHIREGKFEE
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 104 (DEE104) [MIM:619970]: A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE104 is an autosomal dominant form characterized by onset of developmental delay and drug-resistant focal and generalized tonic-clonic seizures in the first few months of life. {ECO:0000269|PubMed:33833240, ECO:0000269|PubMed:34909687}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neurodevelopmental disorder with epilepsy and brain atrophy (NEDEBA) [MIM:619971]: An autosomal recessive disorder characterized by global developmental delay, early-onset progressive myoclonus epilepsy and ataxia. Brain imaging shows progressive atrophy. {ECO:0000269|PubMed:33833240, ECO:0000269|PubMed:34909687}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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 transports protons across cellular membranes. V-ATPase is responsible for the acidification of various organelles, such as lysosomes, endosomes, the trans-Golgi network, and secretory granules, including synaptic vesicles (PubMed:33065002, PubMed:33833240, PubMed:34909687). In certain cell types, can be exported to the plasma membrane, where it is involved in the 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). Required for assembly and activity of the vacuolar ATPase (By similarity). Through its action on compartment acidification, plays an essential role in neuronal development in terms of integrity and connectivity of neurons (PubMed:33833240). {ECO:0000250|UniProtKB:P32563, ECO:0000250|UniProtKB:Q29466, ECO:0000269|PubMed:22053050, ECO:0000269|PubMed:33065002, ECO:0000269|PubMed:33833240, ECO:0000269|PubMed:34909687}.
uniprot
proteins
mass_dalton
96413
uniprot
proteins
protein_family
V-ATPase 116 kDa subunit family
uniprot
proteins
pubmed
12643545
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17081065
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
22053050
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28024296
uniprot
proteins
pubmed
33065002
uniprot
proteins
pubmed
33833240
uniprot
proteins
pubmed
34909687
uniprot
proteins
sequence_length
837
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000250|UniProtKB:P25286}; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:P25286}; Multi-pass membrane protein {ECO:0000255}. Melanosome {ECO:0000269|PubMed:12643545, ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269|PubMed:12643545, ECO:0000269|PubMed:17081065}.
uniprot
proteins
transmembrane_region
TRANSMEM 389..407; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 410..426; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 442..471; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 535..554; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 573..593; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 639..658; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 725..749; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 771..809; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins