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Aliases for NSF Gene

Aliases for NSF Gene

  • N-Ethylmaleimide Sensitive Factor 2 3 5
  • N-Ethylmaleimide-Sensitive Factor-Like Protein 2 3
  • N-Ethylmaleimide-Sensitive Fusion Protein 3 4
  • N-Ethylmaleimide-Sensitive Factor 2 3
  • Vesicular-Fusion Protein NSF 3 4
  • NEM-Sensitive Fusion Protein 3 4
  • EC 3.6.4.6 4 63
  • SKD2 3

External Ids for NSF Gene

Previous GeneCards Identifiers for NSF Gene

  • GC17P044205
  • GC17P047067
  • GC17P045050
  • GC17P045143
  • GC17P041805
  • GC17P042024
  • GC17P044668
  • GC17P040092

Summaries for NSF Gene

GeneCards Summary for NSF Gene

NSF (N-Ethylmaleimide Sensitive Factor) is a Protein Coding gene. Diseases associated with NSF include tetanus and neuronal intranuclear inclusion disease. Among its related pathways are Transport to the Golgi and subsequent modification and Circadian entrainment. GO annotations related to this gene include protein kinase binding and protein complex binding.

UniProtKB/Swiss-Prot for NSF Gene

  • Required for vesicle-mediated transport. Catalyzes the fusion of transport vesicles within the Golgi cisternae. Is also required for transport from the endoplasmic reticulum to the Golgi stack. Seems to function as a fusion protein required for the delivery of cargo proteins to all compartments of the Golgi stack independent of vesicle origin. Interaction with AMPAR subunit GRIA2 leads to influence GRIA2 membrane cycling (By similarity).

Gene Wiki entry for NSF Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NSF Gene

Genomics for NSF Gene

Regulatory Elements for NSF Gene

Promoters for NSF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NSF on UCSC Golden Path with GeneCards custom track

Genomic Location for NSF Gene

Chromosome:
17
Start:
46,590,669 bp from pter
End:
46,757,464 bp from pter
Size:
166,796 bases
Orientation:
Plus strand

Genomic View for NSF Gene

Genes around NSF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NSF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NSF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSF Gene

Proteins for NSF Gene

  • Protein details for NSF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P46459-NSF_HUMAN
    Recommended name:
    Vesicle-fusing ATPase
    Protein Accession:
    P46459
    Secondary Accessions:
    • A8K2D9
    • B4DFA2
    • Q8N6D7
    • Q9UKZ2

    Protein attributes for NSF Gene

    Size:
    744 amino acids
    Molecular mass:
    82594 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homohexamer. Interacts with GABARAP and GABARAPL2. Interacts with GRIA2. Interacts with PLK2, leading to disrupt the interaction with GRIA2. Interacts with MUSK; may regulate MUSK endocytosis and activity (By similarity). Interacts with CDK16 (By similarity).
    SequenceCaution:
    • Sequence=AAA17411.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for NSF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NSF Gene

Proteomics data for NSF Gene at MOPED

Post-translational modifications for NSF Gene

  • Phosphorylation at Ser-569 interferes with homohexamerization.
  • Ubiquitination at Lys 555
  • Modification sites at PhosphoSitePlus

Other Protein References for NSF Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NSF (NSF)

Domains & Families for NSF Gene

Gene Families for NSF Gene

Graphical View of Domain Structure for InterPro Entry

P46459

UniProtKB/Swiss-Prot:

NSF_HUMAN :
  • Belongs to the AAA ATPase family.
Family:
  • Belongs to the AAA ATPase family.
genes like me logo Genes that share domains with NSF: view

Function for NSF Gene

Molecular function for NSF Gene

GENATLAS Biochemistry:
N-ethylmaleimide sensitive factor
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
Required for vesicle-mediated transport. Catalyzes the fusion of transport vesicles within the Golgi cisternae. Is also required for transport from the endoplasmic reticulum to the Golgi stack. Seems to function as a fusion protein required for the delivery of cargo proteins to all compartments of the Golgi stack independent of vesicle origin. Interaction with AMPAR subunit GRIA2 leads to influence GRIA2 membrane cycling (By similarity).

Enzyme Numbers (IUBMB) for NSF Gene

Gene Ontology (GO) - Molecular Function for NSF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 15322554
GO:0019905 syntaxin binding IEA --
genes like me logo Genes that share ontologies with NSF: view
genes like me logo Genes that share phenotypes with NSF: view

Animal Models for NSF Gene

MGI Knock Outs for NSF:
  • Nsf tm1b(KOMP)Mbp

Animal Model Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NSF Gene

Localization for NSF Gene

Subcellular locations from UniProtKB/Swiss-Prot for NSF Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NSF Gene COMPARTMENTS Subcellular localization image for NSF gene
Compartment Confidence
cytosol 5
extracellular 5
golgi apparatus 5
lysosome 5
plasma membrane 5
vacuole 5
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for NSF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005795 Golgi stack ISS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with NSF: view

Pathways & Interactions for NSF Gene

genes like me logo Genes that share pathways with NSF: view

SIGNOR curated interactions for NSF Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for NSF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IMP 22045810
GO:0006891 intra-Golgi vesicle-mediated transport IBA --
GO:0017157 regulation of exocytosis ISS --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with NSF: view

Drugs & Compounds for NSF Gene

(16) Drugs for NSF Gene - From: Novoseek, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
1-Ethyl-Pyrrolidine-2,5-Dione Experimental Pharma Target 0
Magnesium Nutra 0

(13) Additional Compounds for NSF Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with NSF: view

Transcripts for NSF Gene

mRNA/cDNA for NSF Gene

Unigene Clusters for NSF Gene

N-ethylmaleimide-sensitive factor:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NSF Gene

No ASD Table

Relevant External Links for NSF Gene

GeneLoc Exon Structure for
NSF
ECgene alternative splicing isoforms for
NSF

Expression for NSF Gene

mRNA expression in normal human tissues for NSF Gene

mRNA differential expression in normal tissues according to GTEx for NSF Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.2) and Brain - Anterior cingulate cortex (BA24) (x4.7).

Protein differential expression in normal tissues from HIPED for NSF Gene

This gene is overexpressed in Frontal cortex (17.2), Brain (13.4), and Retina (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NSF Gene



SOURCE GeneReport for Unigene cluster for NSF Gene Hs.431279

genes like me logo Genes that share expression patterns with NSF: view

Protein tissue co-expression partners for NSF Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for NSF Gene

Orthologs for NSF Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NSF Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NSF 35
  • 93.23 (n)
  • 99.06 (a)
NSF 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NSF 35
  • 93.95 (n)
  • 99.19 (a)
NSF 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nsf 35
  • 89.2 (n)
  • 98.12 (a)
Nsf 16
Nsf 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NSF 35
  • 99.91 (n)
  • 99.87 (a)
NSF 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nsf 35
  • 88.98 (n)
  • 97.85 (a)
oppossum
(Monodelphis domestica)
Mammalia NSF 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NSF 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves NSF 35
  • 81.71 (n)
  • 94.19 (a)
NSF 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NSF 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nsf 35
  • 78.59 (n)
  • 92.01 (a)
Str.20241 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.22246 35
zebrafish
(Danio rerio)
Actinopterygii nsfa 35
  • 76.29 (n)
  • 86.86 (a)
wufj33g11 35
nsfa 36
  • 86 (a)
OneToMany
nsfb 36
  • 82 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta comt 37
  • 62 (a)
Nsf2 37
  • 62 (a)
Nsf2 35
  • 60.32 (n)
  • 63.81 (a)
CG31495 36
  • 36 (a)
OneToMany
comt 36
  • 62 (a)
OneToMany
Nsf2 36
  • 62 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012684 35
  • 61.35 (n)
  • 64.41 (a)
worm
(Caenorhabditis elegans)
Secernentea nsf-1 35
  • 57.98 (n)
  • 56.45 (a)
nsf-1 36
  • 50 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER169C 35
  • 52.61 (n)
  • 48.54 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C14520g 35
  • 51.69 (n)
  • 46.75 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC18 35
  • 52.46 (n)
  • 47.73 (a)
SEC18 36
  • 44 (a)
OneToOne
soybean
(Glycine max)
eudicotyledons Gma.7352 35
rice
(Oryza sativa)
Liliopsida Os.22280 35
wheat
(Triticum aestivum)
Liliopsida Ta.10189 35
bread mold
(Neurospora crassa)
Ascomycetes NCU03387 35
  • 51.9 (n)
  • 47.6 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sec18 35
  • 52.37 (n)
  • 51.14 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8647 36
  • 55 (a)
OneToOne
Species with no ortholog for NSF:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for NSF Gene

ENSEMBL:
Gene Tree for NSF (if available)
TreeFam:
Gene Tree for NSF (if available)

Paralogs for NSF Gene

Pseudogenes.org Pseudogenes for NSF Gene

genes like me logo Genes that share paralogs with NSF: view

No data available for Paralogs for NSF Gene

Variants for NSF Gene

Sequence variations from dbSNP and Humsavar for NSF Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_029580 -
rs155740 -- 46,696,320(+) acccc(A/G)actgc intron-variant
rs155747 -- 46,688,985(+) AAATA(C/T)CATAA intron-variant
rs155755 -- 46,684,886(+) GAGTA(A/G)TGATG intron-variant
rs155760 -- 46,682,250(+) gtaat(C/T)ctgta intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NSF Gene

Variant ID Type Subtype PubMed ID
dgv127e55 CNV Gain 17911159
dgv974e1 CNV Complex 17122850
dgv975e1 CNV Complex 17122850
dgv976e1 CNV Complex 17122850
nsv516807 CNV Gain+Loss 19592680
nsv908315 CNV Gain 21882294
nsv821687 CNV Gain 15273396
esv33048 CNV Gain+Loss 17666407
nsv9564 CNV Gain+Loss 18304495
esv21783 CNV Gain+Loss 19812545
esv2656635 CNV Deletion 23128226
dgv3185n71 CNV Gain 21882294
dgv3186n71 CNV Loss 21882294
dgv3188n71 CNV Gain 21882294
dgv984e1 CNV Complex 17122850
dgv985e1 CNV Complex 17122850
nsv428343 CNV Gain+Loss 18775914
nsv442749 CNV CNV 18776908
dgv3195n71 CNV Gain+Loss 21882294
esv1003686 CNV Gain 20482838
dgv3201n71 CNV Loss 21882294
nsv510715 CNV Loss 20534489
nsv433451 CNV Gain 18776910
nsv469644 CNV Complex 16826518
nsv471700 CNV Gain+Loss 15918152
nsv820933 CNV Deletion 20802225
nsv833464 CNV Gain 17160897
nsv908533 CNV Gain 21882294
dgv3214n71 CNV Gain+Loss 21882294
dgv3215n71 CNV Loss 21882294
dgv3216n71 CNV Gain 21882294
nsv908538 CNV Loss 21882294
dgv3217n71 CNV Loss 21882294
dgv3218n71 CNV Gain+Loss 21882294
dgv3219n71 CNV Gain+Loss 21882294
dgv3220n71 CNV Gain+Loss 21882294
nsv471514 CNV Duplication 19718026
dgv3221n71 CNV Gain 21882294
dgv16n14 CNV Loss 18776910
nsv471402 CNV Duplication 19718026
nsv833465 CNV Loss 17160897
nsv483083 CNV Gain 15286789
nsv908562 CNV Gain 21882294

Variation tolerance for NSF Gene

Gene Damage Index Score: 0.49; 10.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NSF Gene

HapMap Linkage Disequilibrium report
NSF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NSF Gene

Disorders for NSF Gene

MalaCards: The human disease database

(4) MalaCards diseases for NSF Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
tetanus
  • clostridial tetanus
neuronal intranuclear inclusion disease
  • neuronal intranuclear hyaline inclusion disease
n syndrome
  • nsx
foodborne botulism
  • intoxication botulism
- elite association - COSMIC cancer census association via MalaCards
Search NSF in MalaCards View complete list of genes associated with diseases

Relevant External Links for NSF

Genetic Association Database (GAD)
NSF
Human Genome Epidemiology (HuGE) Navigator
NSF
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NSF
genes like me logo Genes that share disorders with NSF: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NSF Gene

Publications for NSF Gene

  1. A multisubunit particle implicated in membrane fusion. (PMID: 1315316) Wilson D.W. … Rothman J.E. (J. Cell Biol. 1992) 2 3 23 67
  2. NSF independent fusion of Salmonella-containing late phagosomes with early endosomes. (PMID: 20176016) Parashuraman S. … Mukhopadhyay A. (FEBS Lett. 2010) 3 23
  3. PTP1B dephosphorylates N-ethylmaleimide-sensitive factor and elicits SNARE complex disassembly during human sperm exocytosis. (PMID: 19208619) Zarelli V.E. … Tomes C.N. (J. Biol. Chem. 2009) 3 23
  4. Comparative modeling of human NSF reveals a possible binding mode of GABARAP and GATE-16. (PMID: 19533740) Thielmann Y. … Willbold D. (Proteins 2009) 3 23
  5. N-ethylmaleimide-sensitive factor regulates beta2 adrenoceptor trafficking and signaling in cardiomyocytes. (PMID: 17510209) Wang Y. … Xiang Y. (Mol. Pharmacol. 2007) 3 23

Products for NSF Gene

Sources for NSF Gene

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