Gene Gene information from NCBI Gene database.
Entrez ID 4905
Gene name N-ethylmaleimide sensitive factor, vesicle fusing ATPase
Gene symbol NSF
Synonyms (NCBI Gene)
DEE96SEC18SKD2
Chromosome 17
Chromosome location 17q21.31
miRNA miRNA information provided by mirtarbase database.
725
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0000149 Function SNARE binding ISS
GO:0000166 Function Nucleotide binding IEA
GO:0001921 Process Positive regulation of receptor recycling IDA 15613468
GO:0005515 Function Protein binding IPI 15322554, 16417406, 16724110, 20562859, 28514442, 30833792, 32296183, 33961781, 35271311
GO:0005524 Function ATP binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601633 8016 ENSG00000073969
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Developmental and epileptic encephalopathy 96 Pathogenic; Likely pathogenic rs2146247619, rs2146266663, rs2146261671 RCV001449911
RCV001449912
RCV002272881
RCV003133080
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alopecia Alopecia GWASCAT_DG 28196072
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 32651314 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 29630712 Associate
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder GWASCAT_DG 29942085
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 27277949 Associate
★☆☆☆☆
Found in Text Mining only
Body Weight Body weight Pubtator 27277949 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 39218304 Associate
★☆☆☆☆
Found in Text Mining only
Corticobasal Degeneration Corticobasal degeneration Pubtator 28271184 Associate
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn Disease BEFREE 23389767
★☆☆☆☆
Found in Text Mining only
Deuteranomaly Deuteranomaly BEFREE 28271184
★☆☆☆☆
Found in Text Mining only