KEGG   Homo sapiens (human): 4905
Entry
4905              CDS       T01001                                 
Symbol
NSF, DEE96, SEC18, SKD2
Name
(RefSeq) N-ethylmaleimide sensitive factor, vesicle fusing ATPase
  KO
K06027  vesicle-fusing ATPase [EC:3.6.4.6]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04721  Synaptic vesicle cycle
hsa04727  GABAergic synapse
hsa04962  Vasopressin-regulated water reabsorption
Disease
H00606  Early infantile epileptic encephalopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09155 Excretory system
   04962 Vasopressin-regulated water reabsorption
    4905 (NSF)
  09156 Nervous system
   04727 GABAergic synapse
    4905 (NSF)
   04721 Synaptic vesicle cycle
    4905 (NSF)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    4905 (NSF)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.6  Acting on acid anhydrides
   3.6.4  Acting on acid anhydrides to facilitate cellular and subcellular movement
    3.6.4.6  vesicle-fusing ATPase
     4905 (NSF)
Membrane trafficking [BR:hsa04131]
 SNARE
  SNARE associated proteins
   Others
    4905 (NSF)
SSDB
Motif
Pfam: AAA CDC48_N AAA_lid_3 CDC48_2 AAA_22 RNA_helicase RuvB_N AAA_16 AAA_14 AAA_5 AAA_18 TIP49 AAA_33 nSTAND3 ATPase_2 Mg_chelatase AAA_2 AAA_24 AAA_17 NACHT TsaE AAA_28 Parvo_NS1 NB-ARC AAA_25 AAA_7 ATPase ABC_tran AAA_3 IstB_IS21 AAA_11 AAA_19 Rad17 bpMoxR
Other DBs
NCBI-GeneID: 4905
NCBI-ProteinID: NP_006169
OMIM: 601633
HGNC: 8016
Ensembl: ENSG00000073969
UniProt: P46459 A0A384MTI6
Structure
Position
17:46590669..46757464
AA seq 744 aa
MAGRSMQAARCPTDELSLTNCAVVNEKDFQSGQHVIVRTSPNHRYTFTLKTHPSVVPGSI
AFSLPQRKWAGLSIGQEIEVSLYTFDKAKQCIGTMTIEIDFLQKKSIDSNPYDTDKMAAE
FIQQFNNQAFSVGQQLVFSFNEKLFGLLVKDIEAMDPSILKGEPATGKRQKIEVGLVVGN
SQVAFEKAENSSLNLIGKAKTKENRQSIINPDWNFEKMGIGGLDKEFSDIFRRAFASRVF
PPEIVEQMGCKHVKGILLYGPPGCGKTLLARQIGKMLNAREPKVVNGPEILNKYVGESEA
NIRKLFADAEEEQRRLGANSGLHIIIFDEIDAICKQRGSMAGSTGVHDTVVNQLLSKIDG
VEQLNNILVIGMTNRPDLIDEALLRPGRLEVKMEIGLPDEKGRLQILHIHTARMRGHQLL
SADVDIKELAVETKNFSGAELEGLVRAAQSTAMNRHIKASTKVEVDMEKAESLQVTRGDF
LASLENDIKPAFGTNQEDYASYIMNGIIKWGDPVTRVLDDGELLVQQTKNSDRTPLVSVL
LEGPPHSGKTALAAKIAEESNFPFIKICSPDKMIGFSETAKCQAMKKIFDDAYKSQLSCV
VVDDIERLLDYVPIGPRFSNLVLQALLVLLKKAPPQGRKLLIIGTTSRKDVLQEMEMLNA
FSTTIHVPNIATGEQLLEALELLGNFKDKERTTIAQQVKGKKVWIGIKKLLMLIEMSLQM
DPEYRVRKFLALLREEGASPLDFD
NT seq 2235 nt   +upstreamnt  +downstreamnt
atggcgggccggagcatgcaagcggcaagatgtcctacagatgaattatctttaaccaat
tgtgcagttgtgaatgaaaaggatttccagtctggccagcatgtgattgtgaggacctct
cccaatcacaggtacacatttacactgaagacacatccatcggtggttccagggagcatt
gcattcagtttacctcagagaaaatgggctgggctttctattgggcaagaaatagaagtc
tccttatatacatttgacaaagccaaacagtgtattggcacaatgaccatcgagattgat
ttcctgcagaaaaaaagcattgactccaacccttatgacaccgacaagatggcagcagaa
tttattcagcaattcaacaaccaggccttctcagtgggacaacagcttgtctttagcttc
aatgaaaagctttttggcttactggtgaaggacattgaagccatggatcctagcatcctg
aagggagagcctgcgacagggaaaaggcagaagattgaagtaggactggttgttggaaac
agtcaagttgcatttgaaaaagcagaaaattcgtcacttaatcttattggcaaagctaaa
accaaggaaaatcgccaatcaattatcaatcctgactggaactttgaaaaaatgggaata
ggaggtctagacaaggaattttcagatattttccgacgagcatttgcttcccgagtattt
cctccagagattgtggagcagatgggttgtaaacatgttaaaggcatcctgttatatgga
cccccaggttgtggtaagactctcttggctcgacagattggcaagatgttgaatgcaaga
gagcccaaagtggtcaatgggccagaaatccttaacaaatatgtgggagaatcagaggct
aacattcgcaaactttttgctgatgctgaagaggagcaaaggaggcttggtgctaacagt
ggtttgcacatcatcatctttgatgaaattgatgccatctgcaagcagagagggagcatg
gctggtagcacgggagttcatgacactgttgtcaaccagttgctgtccaaaattgatggc
gtggagcagctaaacaacatcctagtcattggaatgaccaatagaccagatctgatagat
gaggctcttcttagacctggaagactggaagttaaaatggagataggcttgccagatgag
aaaggccgactacagattcttcacatccacacagcaagaatgagagggcatcagttactc
tctgctgatgtagacattaaagaactggccgtggagaccaagaatttcagtggtgctgaa
ttggagggtctggtgcgagcagcccagtccactgctatgaatagacacataaaggccagt
actaaagtggaagtggacatggagaaagcagaaagcctgcaagtgacgagaggagacttc
cttgcttctttggagaatgatatcaaaccagcctttggcacaaaccaagaagattatgca
agttacattatgaacggtatcatcaaatggggtgacccagttactcgagttctagatgat
ggggagctgctggtgcagcagactaagaacagtgaccgcacaccattggtcagcgtgctt
ctggaaggccctcctcacagtgggaagactgctttagctgcaaaaattgcagaggaatcc
aacttcccgttcatcaagatctgttctcctgataaaatgattggcttttctgaaacagcc
aaatgtcaggccatgaagaagatctttgatgatgcgtacaaatcccagctcagttgtgtg
gttgtggatgacattgagagattgcttgattacgtccctattggccctcgattttcaaat
cttgtattacaggctcttctcgttttactgaaaaaggcacctcctcagggccgcaagctt
cttatcattgggaccactagccgcaaagatgtccttcaggagatggaaatgcttaacgct
ttcagcaccaccatccacgtgcccaacattgccacaggagagcagctgttggaagctttg
gagcttttgggcaacttcaaggataaggaacgcaccacaattgcacagcaagtcaaaggg
aagaaggtctggataggaatcaagaagttactaatgctgatcgagatgtccctacagatg
gatcctgaataccgtgtgagaaaattcttggccctcttaagagaagaaggagctagcccc
cttgattttgattga

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