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

Gene ID: 18195, updated on 5-Aug-2022

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; AI316878; AU020090; AU067812
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. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy. Orthologous to human NSF (N-ethylmaleimide sensitive factor, vesicle fusing ATPase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in cerebellum adult (RPKM 105.1), frontal lobe adult (RPKM 99.1) and 21 other tissues See more
Orthologs
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Genomic context

See Nsf in Genome Data Viewer
Location:
11 E1; 11 67.54 cM
Exon count:
21
Annotation release Status Assembly Chr Location
109 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)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 11 NC_000077.5 (103683096..103815370, complement)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA C130046K22 gene Neighboring gene golgi SNAP receptor complex member 2 Neighboring gene wingless-type MMTV integration site family, member 9B Neighboring gene wingless-type MMTV integration site family, member 3 Neighboring gene VISTA enhancer mm1102 Neighboring gene predicted gene, 35365 Neighboring gene CDGSH iron-sulfur domain-containing protein 1 pseudogene Neighboring gene ADP-ribosylation factor 2 Neighboring gene predicted gene, 35420

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (2) 
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
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 protein binding ISO
Inferred from Sequence Orthology
more info
 
enables D1 dopamine receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables PDZ domain binding ISO
Inferred from Sequence Orthology
more info
 
enables hydrolase activity 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 nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables protein C-terminus binding ISO
Inferred from Sequence Orthology
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-containing complex binding ISO
Inferred from Sequence Orthology
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
PubMed 
involved_in SNARE complex disassembly IEA
Inferred from Electronic Annotation
more info
 
involved_in intra-Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in intracellular protein transport ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of protein catabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of receptor recycling 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 transport ISO
Inferred from Sequence Orthology
more info
 
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 ISO
Inferred from Sequence Orthology
more info
 
is_active_in Golgi stack IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in Golgi stack ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm 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 PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in postsynaptic density ISO
Inferred from Sequence Orthology
more info
 

General protein information

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

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)

  1. NM_008740.4NP_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
    P46460, Q923C6
    Related
    ENSMUSP00000099364.5, ENSMUST00000103075.11
    Conserved Domains (4) summary
    smart00382
    Location:254399
    AAA; ATPases associated with a variety of cellular activities
    smart01072
    Location:111183
    CDC48_2; Cell division protein 48 (CDC48) domain 2
    smart01073
    Location:683
    CDC48_N; Cell division protein 48 (CDC48) N-terminal domain
    pfam00004
    Location:256397
    AAA; ATPase family associated with various cellular activities (AAA)

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    103712608..103844882 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)