NSF Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | NSF |
| Official Name | N-ethylmaleimide sensitive factor, vesicle fusing ATPase [Source:HGNC Symbol;Acc:HGNC:8016] |
| Ensembl ID | ENSG00000073969 |
| Bio databases IDs | |
| Aliases | N-ethylmaleimide sensitive factor, vesicle fusing ATPase, N-ethylmaleimide-sensitive factor-like protein |
| Synonyms | AU067812, DEE96, NEM SENSITIVE FACTOR, N-ethylmaleimide sensitive factor, vesicle fusing ATPase, N-ethylmaleimide sensitive fusion protein, SEC18, SKD2, Vesicle-fusing ATPase |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NSF often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SNARE binding
- protein kinase binding
- catalytic domain
- ATP-binding domain
- G-protein-coupled receptor binding
- enzyme binding
- Cell division protein 48 (CDC48), N-terminal domain
- protein binding
- ionotropic glutamate receptor binding
- AAA+ lid domain
- ATPase
- PDZ-domain binding
- syntaxin binding
- AAA domain
- AAA domain (dynein-related subfamily)
- ATPase family associated with various cellular activities (AAA)
- Cell division protein 48 (CDC48), domain 2
- binding protein
- Cell division protein 48 (CDC48) N-terminal domain
- syntaxin-1 binding
- ATP-dependent protein binding
- P-loop containing Nucleoside Triphosphate Hydrolases
- transporter
- ATPases associated with a variety of cellular activities
Pathways
Biological processes and signaling networks where the NSF gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Parkinson disease
- hypertension
- cancer
- hypertrophic cardiomyopathy
- schizophrenia
- ovarian carcinoma
- epithelial ovarian cancer
- breast carcinoma
- neuroticism
- Alzheimer disease
role in cell
- formation
- exocytosis by
- expression in
- survival
- growth
- cell death
- assembly
- size
- internalization in
- fusion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- high-density microsomal fractions
- myelin enriched fraction
- soluble fraction
- postsynaptic density (PSD) fractions
- Golgi-enriched fraction
- low-density microsomal fraction
- membrane fraction
- mitochondrial fraction
- synaptosomal membrane fractions
- pH resistant lipid raft fraction
- organelle
- perinuclear region
- cellular membrane
- Plasma Membrane
- vesicles
- Golgi Apparatus
- granules
- cytosol
- endothelial multimolecular transcytotic complexes
- Golgi stacks
- sperm head
- dendritic spines
- nodes of Ranvier
- synaptic vesicles
- synaptosomes
- synapse
- photoreceptor outer segments
- microvilli
- dendrites
- postsynaptic density
- dendritic shafts
- phagosomes
- vesicle fraction
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NSF gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- potassium ion transport
- vesicle-mediated transport
- positive regulation of receptor recycling
- SNARE complex disassembly
- Golgi to plasma membrane protein transport
- positive regulation of protein catabolic process
- intra-Golgi vesicle-mediated transport
- regulation of exocytosis
- plasma membrane fusion
- intracellular protein transport
- exocytosis
Cellular Component
Where in the cell the gene product is active
- postsynaptic density
- dendritic shaft
- cytosol
- Golgi apparatus
- Golgi stack
- lysosomal membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- protein kinase binding
- ATP binding
- ionotropic glutamate receptor binding
- protein binding
- metal ion binding
- syntaxin-1 binding
- PDZ domain binding
- SNARE binding