Also known as SKD2, N-ethylmaleimide sensitive factor, N-ethylmaleimide sensitive factor, vesicle fusing ATPase, SEC18, DEE96
protein-coding gene in the species Homo sapiens
Gene data
NSF- Name
- N-ethylmaleimide sensitive factor, vesicle fusing ATPase
- Type
- protein-coding
- Position
- 46,590,661–46,757,679 (+)
- Aliases
- DEE96, SEC18, SKD2
- Ensembl
- ENSG00000276262
- RefSeq RNA
- NM_006178.4, NR_040116.2
- RefSeq protein
- NP_006169.2
Enables PDZ domain binding activity and ionotropic glutamate receptor binding activity. Involved in intracellular protein transport; positive regulation of protein catabolic process; and positive regulation of receptor recycling. Located in Golgi apparatus; cytosol; and plasma membrane. Implicated in developmental and epileptic encephalopathy. [provided by Alliance of Genome Resources, Apr 2022]
Gene Ontology
Biological process
Molecular function
Pathways
Synaptic vesicle cycle - Homo sapiens (human)GABAergic synapse - Homo sapiens (human)Vasopressin-regulated water reabsorption - Homo sapiens (human)Neurotransmitter receptors and postsynaptic signal transmissionTransmission across Chemical SynapsesNeuronal SystemER to Golgi Anterograde TransportMembrane TraffickingCOPII-mediated vesicle transportMetabolism of proteins
via MyGene.info
Gene · Ensembl
N-ethylmaleimide sensitive factor, vesicle fusing ATPase
- Symbol
- NSF
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 17:46,590,661-46,757,679
- Strand
- Forward (+)
- Assembly
- GRCh38
View on Ensembl →
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein NSF PDB 1d2n.png
Show 9 more facts
- HomoloGene ID
- 4502
- cytogenetic location
- 17q21.31
- genetic association
- Parkinson's disease
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/4905
- chromosome
- human chromosome 17
- genomic start
- 44668035
- genomic end
- 44834830
- expressed in
- hypothalamus
via Wikidata · CC0