NSF
entrez
4905
canonical
uniprot
P46459
canonical
ensembl
ENSG00000073969
resolver
ensembl
ENSG00000276262
resolver
ensembl
ENSG00000278174
resolver
ensp
ENSP00000381293
resolver
genesymbol
NSF
resolver
hgnc
HGNC:8016
resolver
uniprot
A0A384MTI6
resolver
uniprot
A8K2D9
resolver
uniprot
B4DFA2
resolver
uniprot
Q8N6D7
resolver
uniprot
Q9UKZ2
resolver
uniprot_entry
A0A384MTI6_HUMAN
resolver
uniprot_entry
NSF_HUMAN
resolver
uniprot_sec
A8K2D9
resolver
uniprot_sec
B4DFA2
resolver
uniprot_sec
Q8N6D7
resolver
uniprot_sec
Q9UKZ2
resolver
amino_acid_sequence
MAGRSMQAARCPTDELSLTNCAVVNEKDFQSGQHVIVRTSPNHRYTFTLKTHPSVVPGSIAFSLPQRKWAGLSIGQEIEVSLYTFDKAKQCIGTMTIEIDFLQKKSIDSNPYDTDKMAAEFIQQFNNQAFSVGQQLVFSFNEKLFGLLVKDIEAMDPSILKGEPATGKRQKIEVGLVVGNSQVAFEKAENSSLNLIGKAKTKENRQSIINPDWNFEKMGIGGLDKEFSDIFRRAFASRVFPPEIVEQMGCKHVKGILLYGPPGCGKTLLARQIGKMLNAREPKVVNGPEILNKYVGESEANIRKLFADAEEEQRRLGANSGLHIIIFDEIDAICKQRGSMAGSTGVHDTVVNQLLSKIDGVEQLNNILVIGMTNRPDLIDEALLRPGRLEVKMEIGLPDEKGRLQILHIHTARMRGHQLLSADVDIKELAVETKNFSGAELEGLVRAAQSTAMNRHIKASTKVEVDMEKAESLQVTRGDFLASLENDIKPAFGTNQEDYASYIMNGIIKWGDPVTRVLDDGELLVQQTKNSDRTPLVSVLLEGPPHSGKTALAAKIAEESNFPFIKICSPDKMIGFSETAKCQAMKKIFDDAYKSQLSCVVVDDIERLLDYVPIGPRFSNLVLQALLVLLKKAPPQGRKLLIIGTTSRKDVLQEMEMLNAFSTTIHVPNIATGEQLLEALELLGNFKDKERTTIAQQVKGKKVWIGIKKLLMLIEMSLQMDPEYRVRKFLALLREEGASPLDFD
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 96 (DEE96) [MIM:619340]: 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. DEE96 is an autosomal dominant form characterized by onset of seizures in the first days or weeks of life. Affected infants also have hypotonia with respiratory insufficiency that may result in premature death. {ECO:0000269|PubMed:31675180}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.4.6
uniprot
proteins
function
FUNCTION: Required for vesicle-mediated transport. Catalyzes the fusion of transport vesicles within the Golgi cisternae. Is also required for transport from the endoplasmic reticulum to the Golgi stack. Seems to function as a fusion protein required for the delivery of cargo proteins to all compartments of the Golgi stack independent of vesicle origin. Interaction with AMPAR subunit GRIA2 leads to influence GRIA2 membrane cycling (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
82594
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Ser-569 interferes with homohexamerization. {ECO:0000250}.
uniprot
proteins
protein_family
AAA ATPase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
31675180
uniprot
proteins
sequence_length
744
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm.
uniprot
proteins