• Gene id: 4905

Gene Summary

• Gene Symbol: NSF   Gene   UCSC   Ensembl
• Aliases: SEC18, SKD2
• Gene name: N-ethylmaleimide sensitive factor, vesicle fusing ATPase
• Alternate names: vesicle-fusing ATPase, N-ethylmaleimide-sensitive factor-like protein, N-ethylmaleimide-sensitive fusion protein, NEM-sensitive fusion protein, epididymis secretory sperm binding protein, vesicular-fusion protein NSF,
• Gene location: 17q21.31 (46590668: 46757463)     Exons: 21     NC_000017.11
• OMIM: 601633

Protein Summary

• Protein general information: P46459  
  • Name: Vesicle fusing ATPase (EC 3.6.4.6) (N ethylmaleimide sensitive fusion protein) (NEM sensitive fusion protein) (Vesicular fusion protein NSF)
  • Length: 744  
  • Mass: 82594
• Sequence:

  MAGRSMQAARCPTDELSLTNCAVVNEKDFQSGQHVIVRTSPNHRYTFTLKTHPSVVPGSIAFSLPQRKWAGLSIG
  QEIEVSLYTFDKAKQCIGTMTIEIDFLQKKSIDSNPYDTDKMAAEFIQQFNNQAFSVGQQLVFSFNEKLFGLLVK
  DIEAMDPSILKGEPATGKRQKIEVGLVVGNSQVAFEKAENSSLNLIGKAKTKENRQSIINPDWNFEKMGIGGLDK
  EFSDIFRRAFASRVFPPEIVEQMGCKHVKGILLYGPPGCGKTLLARQIGKMLNAREPKVVNGPEILNKYVGESEA
  NIRKLFADAEEEQRRLGANSGLHIIIFDEIDAICKQRGSMAGSTGVHDTVVNQLLSKIDGVEQLNNILVIGMTNR
  PDLIDEALLRPGRLEVKMEIGLPDEKGRLQILHIHTARMRGHQLLSADVDIKELAVETKNFSGAELEGLVRAAQS
  TAMNRHIKASTKVEVDMEKAESLQVTRGDFLASLENDIKPAFGTNQEDYASYIMNGIIKWGDPVTRVLDDGELLV
  QQTKNSDRTPLVSVLLEGPPHSGKTALAAKIAEESNFPFIKICSPDKMIGFSETAKCQAMKKIFDDAYKSQLSCV
  VVDDIERLLDYVPIGPRFSNLVLQALLVLLKKAPPQGRKLLIIGTTSRKDVLQEMEMLNAFSTTIHVPNIATGEQ
  LLEALELLGNFKDKERTTIAQQVKGKKVWIGIKKLLMLIEMSLQMDPEYRVRKFLALLREEGASPLDFD

• Structural information:
  • Interpro: IPR003593  IPR041569  IPR009010  IPR003959  IPR003960   IPR004201  IPR029067  IPR003338  IPR027417  IPR039812  
  • Prosite: PS00674
  • STRING: ENSP00000381293
• Other Databases: GeneCards:  NSF  Malacards:  NSF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017075	syntaxin-1 binding	ISS	molecular function
GO:0035255	ionotropic glutamate receptor binding	IPI	molecular function
GO:0017137	Rab GTPase binding	ISS	molecular function
GO:0000149	SNARE binding	ISS	molecular function
GO:0005795	Golgi stack	ISS	cellular component
GO:0016887	ATPase activity	ISS	molecular function
GO:0016887	ATPase activity	ISS	molecular function
GO:0019901	protein kinase binding	ISS	molecular function
GO:0016192	vesicle-mediated transport	ISS	biological process
GO:0044877	protein-containing complex binding	ISS	molecular function
GO:0017157	regulation of exocytosis	ISS	biological process
GO:0035494	SNARE complex disassembly	ISS	biological process
GO:0014069	postsynaptic density	ISS	cellular component
GO:0043198	dendritic shaft	ISS	cellular component
GO:0045732	positive regulation of protein catabolic process	IMP	biological process
GO:0006886	intracellular protein transport	IMP	biological process
GO:0005795	Golgi stack	IBA	cellular component
GO:0006891	intra-Golgi vesicle-mediated transport	IBA	biological process
GO:0048211	Golgi vesicle docking	IBA	biological process
GO:0016887	ATPase activity	IBA	molecular function
GO:0043001	Golgi to plasma membrane protein transport	IBA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016887	ATPase activity	IEA	molecular function
GO:0035494	SNARE complex disassembly	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	TAS	biological process
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	TAS	biological process
GO:0016887	ATPase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0048208	COPII vesicle coating	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0017075	syntaxin-1 binding	IEA	molecular function
GO:0019905	syntaxin binding	IEA	molecular function
GO:0019901	protein kinase binding	IEA	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0001921	positive regulation of receptor recycling	IDA	biological process
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0006887	exocytosis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045026	plasma membrane fusion	TAS	biological process
GO:0030165	PDZ domain binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04727	GABAergic synapse
hsa04721	Synaptic vesicle cycle
hsa04962	Vasopressin-regulated water reabsorption

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq