Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4905
Gene name Gene Name - the full gene name approved by the HGNC.
N-ethylmaleimide sensitive factor, vesicle fusing ATPase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NSF
Synonyms (NCBI Gene) Gene synonyms aliases
DEE96, SEC18, SKD2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DEE96
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.31
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT024525 hsa-miR-215-5p Microarray 19074876
MIRT026250 hsa-miR-192-5p Microarray 19074876
MIRT026983 hsa-miR-103a-3p Sequencing 20371350
MIRT029069 hsa-miR-26b-5p Microarray 19088304
MIRT031568 hsa-miR-16-5p Sequencing 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000149 Function SNARE binding ISS
GO:0001921 Process Positive regulation of receptor recycling IDA 15613468
GO:0005515 Function Protein binding IPI 15322554, 16417406, 16724110, 20562859, 30833792, 32296183
GO:0005524 Function ATP binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601633 8016 ENSG00000073969
Protein
UniProt ID P46459
Protein name Vesicle-fusing ATPase (EC 3.6.4.6) (N-ethylmaleimide-sensitive fusion protein) (NEM-sensitive fusion protein) (Vesicular-fusion protein NSF)
Protein 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
PDB 6KZQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02359 CDC48_N 5 85 Cell division protein 48 (CDC48), N-terminal domain Domain
PF02933 CDC48_2 111 185 Cell division protein 48 (CDC48), domain 2 Domain
PF00004 AAA 256 397 ATPase family associated with various cellular activities (AAA) Domain
PF17862 AAA_lid_3 423 472 AAA+ lid domain Domain
PF00004 AAA 539 669 ATPase family associated with various cellular activities (AAA) Domain
Sequence
Sequence length 744
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Synaptic vesicle cycle
GABAergic synapse
Vasopressin-regulated water reabsorption
  COPII-mediated vesicle transport
Trafficking of GluR2-containing AMPA receptors
COPI-mediated anterograde transport
COPI-dependent Golgi-to-ER retrograde traffic
Intra-Golgi traffic
Retrograde transport at the Trans-Golgi-Network
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
31675180
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
31675180
Ovarian cancer Epithelial ovarian cancer rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828
View all (31 more)
25581431
Parkinson disease Parkinson Disease rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432
View all (84 more)
21738487, 19915575, 20711177, 21812969, 22438815
Unknown
Disease term Disease name Evidence References Source
Epileptic encephalopathy developmental and epileptic encephalopathy 96 GenCC
Neuroticism Neuroticism GWAS
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 27277949
Alzheimer Disease Associate 32651314
Amyotrophic Lateral Sclerosis Associate 29630712
Atherosclerosis Associate 27277949
Body Weight Associate 27277949
Breast Neoplasms Associate 39218304
Corticobasal Degeneration Associate 28271184
COVID 19 Associate 34183789
Diabetes Mellitus Type 2 Associate 31449493
Drug Related Side Effects and Adverse Reactions Inhibit 11606565