NSF Gene (N-Ethylmaleimide Sensitive Factor, Vesicle Fusing ATPase)
Key regulator of intracellular membrane fusion and vesicular transport
Gene Information Card
| Symbol | NSF |
|---|---|
| Full Name | N-Ethylmaleimide Sensitive Factor, Vesicle Fusing ATPase |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 4905 ncbi.nlm.nih.gov/gene/4905 |
| Ensembl ID | ENSG00000173918 |
| UniProt ID | P46459 |
| OMIM ID | 601633 |
| HGNC ID | 8016 |
| Aliases | SKD2, NEMF |
Description
NSF encodes N-ethylmaleimide sensitive factor, a homohexameric ATPase essential for disassembling SNARE complexes after vesicle fusion. It mediates membrane fusion events in intracellular trafficking, including neurotransmitter release and hormone secretion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Impaired SNARE recycling due to NSF loss-of-function mutations | PMID: 29455858 |
| Alzheimer's disease | Reduced NSF expression disrupts synaptic vesicle recycling | PMID: 21943603 |
| Epileptic encephalopathy | De novo missense variants in NSF alter ATPase activity | PMID: 29455858 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Adrenal gland | 15.2 | Medium |
| Pancreas | 12.8 | Medium |
| Liver | 8.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 32.4 | High expression |
| HeLa (cervical carcinoma) | 18.7 | Moderate expression |
| HEK293 (embryonic kidney) | 22.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1792C>T (p.Arg598Cys) | Missense | Rare | Reduced ATPase activity, dominant-negative effect |
| c.1090G>A (p.Glu364Lys) | Missense | De novo | Impaired SNARE disassembly, associated with epileptic encephalopathy |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Start-loss and nonsense mutations abolish NSF protein production or ATPase activity.
Gain of Function (GOF)
Not reported for NSF.
Dominant Negative (DN)
Missense variants like p.Arg598Cys impair hexamer function and disrupt SNARE recycling.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • ATP hydrolysis activity |
| • SNARE binding | • vesicle fusion |
| • intracellular protein transport | • membrane docking |
Pathways
• SNARE interactions in vesicular transport (Reactome R-HSA-204005)
• Membrane trafficking (Reactome R-HSA-199991)
• Neurotransmitter release cycle (Reactome R-HSA-112310)
Protein Summary
NSF is a 744-amino-acid protein that forms a homohexameric ring. Each subunit contains an N-terminal domain for SNARE binding and two ATPase domains (D1 and D2). ATP hydrolysis drives conformational changes that disassemble cis-SNARE complexes, enabling SNARE reuse for subsequent fusion events.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NSFL1C Knockout HEK293 Cell Line | EDJ-KQ2556 | Human | 55968 | Details Get a Quote |
| NSFL1C Knockout A-549 Cell Line | EDJ-KQ23211 | Human | 55968 | Details Get a Quote |
| NSFL1C Knockout HCT 116 Cell Line | EDJ-KQ23212 | Human | 55968 | Details Get a Quote |
| NSFL1C Knockout HeLa Cell Line | EDJ-KQ21847 | Human | 55968 | Details Get a Quote |
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