Nsf N-ethylmaleimide sensitive fusion protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nsfprovided by MGI
Official Full Name: N-ethylmaleimide sensitive fusion proteinprovided by MGI
Primary source: MGI:MGI:104560
See related: Ensembl:ENSMUSG00000034187 AllianceGenome:MGI:104560
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: SKD2
Summary: Enables ATP hydrolysis activity; protein kinase binding activity; and syntaxin-1 binding activity. Acts upstream of or within potassium ion transport. Located in myelin sheath. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and integumental system. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 96. Orthologous to human NSF (N-ethylmaleimide sensitive factor, vesicle fusing ATPase). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in cerebellum adult (RPKM 105.1), frontal lobe adult (RPKM 99.1) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 E1; 11 67.54 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (103712608..103844882, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (103821782..103954056, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Munc18c accelerates SNARE-dependent membrane fusion in the presence of regulatory proteins alpha-SNAP and NSF.
Title: Munc18c accelerates SNARE-dependent membrane fusion in the presence of regulatory proteins α-SNAP and NSF.
AMPA Receptor Surface Expression Is Regulated by S-Nitrosylation of Thorase and Transnitrosylation of NSF.
Title: AMPA Receptor Surface Expression Is Regulated by S-Nitrosylation of Thorase and Transnitrosylation of NSF.
Munc13-1 and Munc18-1, but not CAPS-1/2, stabilize primed synaptic vesicles by preventing NSF-dependent de-priming.
Title: Munc13-1 and Munc18-1 together prevent NSF-dependent de-priming of synaptic vesicles.
NSF may have a role in vascular instability in gram-positive lung infections
Title: N-Ethylmaleimide Sensitive Factor (NSF) Inhibition Prevents Vascular Instability following Gram-Positive Pulmonary Challenge.
that mutant LRRK2 may impair synaptic vesicle dynamics via aberrant phosphorylation of N-ethylmaleimide sensitive fusion
Title: LRRK2 phosphorylates pre-synaptic N-ethylmaleimide sensitive fusion (NSF) protein enhancing its ATPase activity and SNARE complex disassembling rate.
identify conserved sequences in the 3'UTR of NSF as miR-33 responsive elements and show that Nsf is specifically recruited to the RNA-induced silencing complex following induction of miR-33
Title: Control of very low-density lipoprotein secretion by N-ethylmaleimide-sensitive factor and miR-33.
Arr1 and NSF interaction are necessary for both maintenance and modulation of normal photoreceptor synaptic regulation and NSF-RP2 interaction may play an important role in membrane protein trafficking in the photoreceptor.
Title: Potential cellular functions of N-ethylmaleimide sensitive factor in the photoreceptor.
These findings identify new roles for N-ethylmaleimide-sensitive factor and protein kinase C epsilon in regulating synaptic inhibition through downregulation of GABA(A) receptors
Title: GABAA receptor trafficking is regulated by protein kinase C(epsilon) and the N-ethylmaleimide-sensitive factor.
These results indicate that phosphorylation of GluR2 S880 and NSF and PICK1 binding to GluR2 dynamically regulate GluR2 recycling.
Title: PICK1 and phosphorylation of the glutamate receptor 2 (GluR2) AMPA receptor subunit regulates GluR2 recycling after NMDA receptor-induced internalization.
dual regulation on hbeta2AR trafficking and signaling by NSF through direct binding to cargo receptor and its ATPase activity.
Title: N-ethylmaleimide-sensitive factor regulates beta2 adrenoceptor trafficking and signaling in cardiomyocytes.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Nsf (e-PCR), detects polymorphism
- UniSTS:497472

AU043990 (e-PCR)
- UniSTS:180050

AW743335 (e-PCR)
- UniSTS:208755

AW610836 (e-PCR)
- UniSTS:180343

NSF-1 (e-PCR)
- UniSTS:512128

RH136354 (e-PCR)
- UniSTS:210344

AU067812 (e-PCR)
- UniSTS:165803

RH136146 (e-PCR)
- UniSTS:210141

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATP hydrolysis activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables ATP-dependent H2AZ histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H3-H4 histone complex chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables ATP-dependent protein disaggregase activity	ISS Inferred from Sequence or Structural Similarity more info
enables D1 dopamine receptor binding	ISO Inferred from Sequence Orthology more info
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
enables PDZ domain binding	IEA Inferred from Electronic Annotation more info
enables PDZ domain binding	ISO Inferred from Sequence Orthology more info
enables SNARE binding	ISS Inferred from Sequence or Structural Similarity more info
enables chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader activity	IEA Inferred from Electronic Annotation more info
enables ionotropic glutamate receptor binding	IEA Inferred from Electronic Annotation more info
enables ionotropic glutamate receptor binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine kinase binding	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISS Inferred from Sequence or Structural Similarity more info
enables small GTPase binding	ISO Inferred from Sequence Orthology more info
enables syntaxin binding	IDA Inferred from Direct Assay more info	PubMed
enables syntaxin-1 binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi to plasma membrane protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in SNARE complex disassembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in chromatin looping	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in intra-Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in intracellular protein transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of receptor recycling	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of receptor recycling	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of receptor-mediated endocytosis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within potassium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in protein-containing complex disassembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of exocytosis	ISO Inferred from Sequence Orthology more info
involved_in regulation of receptor internalization	ISO Inferred from Sequence Orthology more info
involved_in vesicle-mediated transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
is_active_in Golgi stack	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi stack	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in dendritic shaft	ISO Inferred from Sequence Orthology more info
located_in myelin sheath	HDA more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: vesicle-fusing ATPase

Names: N-ethylmaleimide sensitive factor; NEM-sensitive fusion protein; suppressor of K(+) transport growth defect 2; vesicular-fusion protein NSF

NP_032766.2

EC 3.6.4.6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_008740.4 → NP_032766.2 vesicle-fusing ATPase

See identical proteins and their annotated locations for NP_032766.2

Status: VALIDATED

Source sequence(s)

AL596108, AL603829

Consensus CDS

CCDS25524.1

UniProtKB/Swiss-Prot

A2A646, P46460, Q8BQ65, Q8C3R2, Q8CCT9, Q8CEF0, Q923C6

Related

ENSMUSP00000099364.5, ENSMUST00000103075.11

Conserved Domains (4) summary

smart00382
Location:254 → 399

AAA; ATPases associated with a variety of cellular activities

smart01072
Location:111 → 183

CDC48_2; Cell division protein 48 (CDC48) domain 2

smart01073
Location:6 → 83

CDC48_N; Cell division protein 48 (CDC48) N-terminal domain

pfam00004
Location:256 → 397

AAA; ATPase family associated with various cellular activities (AAA)