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Nsf Gene Detail
Summary
  • Symbol
    Nsf
  • Name
    N-ethylmaleimide sensitive fusion protein
  • Synonyms
    N-ethylmaleimide sensitive factor, SKD2
  • Feature Type
    protein coding gene
  • IDs
    MGI:104560
    NCBI Gene: 18195
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:103712608-103844882 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 67.54 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    759 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104560
 protein coding gene Chr11:103712608-103844882 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019270
 protein coding gene Chr11:106931380-107076271 (-)
A/J MGP_AJ_G0019238
 protein coding gene Chr11:102384365-102521452 (-)
AKR/J MGP_AKRJ_G0019207
 protein coding gene Chr11:105531050-105669201 (-)
BALB/cJ MGP_BALBcJ_G0019212
 protein coding gene Chr11:102823288-102957854 (-)
C3H/HeJ MGP_C3HHeJ_G0019021
 protein coding gene Chr11:105759666-105897371 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019662
 protein coding gene Chr11:110235456-110381894 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017287
 protein coding gene Chr11:99796038-99930227 (-)
CAST/EiJ MGP_CASTEiJ_G0018575
 protein coding gene Chr11:106785609-106923708 (-)
CBA/J MGP_CBAJ_G0018990
 protein coding gene Chr11:114815557-114973803 (-)
DBA/2J MGP_DBA2J_G0019102
 protein coding gene Chr11:101883309-102017282 (-)
FVB/NJ MGP_FVBNJ_G0019093
 protein coding gene Chr11:101410989-101543687 (-)
LP/J MGP_LPJ_G0019171
 protein coding gene Chr11:107418470-107556785 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019123
 protein coding gene Chr11:114148866-114297204 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019699
 protein coding gene Chr11:105914604-106050838 (-)
PWK/PhJ MGP_PWKPhJ_G0018339
 protein coding gene Chr11:102942638-103104397 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018130
 protein coding gene Chr11:105667196-105809339 (-)
WSB/EiJ MGP_WSBEiJ_G0018624
 protein coding gene Chr11:105920127-106055729 (-)



Homology
more
  • Human Ortholog
    NSF, N-ethylmaleimide sensitive factor, vesicle fusing ATPase
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NSF, N-ethylmaleimide sensitive factor, vesicle fusing ATPase
  • Synonyms
    DEE96, SEC18, SKD2
  • Links
    NCBI Gene ID: 4905
    neXtProt AC: NX_P46459
    UniProt: P46459

  • Chr Location
    17q21.31; chr17:46590669-46757679 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Nsf mouse models; 1 with human NSF associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    15 phenotypes from 2 alleles in 2 genetic backgrounds
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous null mice show early embryonic lethality. Heterozygotes show abnormalities in sociability, communication, repetitive behavior and anxiety and impaired postsynaptic density and long-term depression in hippocampal CA1.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    50
  • GO References
    16
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    961
  • Tissues
    168
  • cDNA Data
    20
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18195 NCBI Gene Model | MGI Sequence Detail 132275 C57BL/6J ±  kb
    transcript NM_008740 RefSeq | MGI Sequence Detail 3766 ZRU/MplStud  
    polypeptide P46460 UniProt | EBI | MGI Sequence Detail 744 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 24
      cDNA 23
      Primer pair 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-25994, MGI:2144115, MGI:2144400, MGI:2144446
    References
    more
    • Summaries
      All 72
      Developmental Gene Expression 10
      Diseases 1
      Gene Ontology 16
      Phenotypes 14
    • Earliest
      J:18876 Puschel AW, et al., The N-ethylmaleimide-sensitive fusion protein (NSF) is preferentially expressed in the nervous system. FEBS Lett. 1994 Jun 20;347(1):55-8
    • Latest
      J:335231 Bustamante-Barrientos FA, et al., Alpha-SNAP (M105I) mutation promotes neuronal differentiation of neural stem/progenitor cells through overactivation of AMPK. Front Cell Dev Biol. 2023;11:1061777
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory