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Aliases for NSF Gene

Aliases for NSF Gene

  • N-Ethylmaleimide-Sensitive Factor 2 3
  • N-Ethylmaleimide-Sensitive Factor-Like Protein 2 3
  • N-Ethylmaleimide-Sensitive Fusion Protein 3 4
  • Vesicular-Fusion Protein NSF 3 4
  • NEM-Sensitive Fusion Protein 3 4
  • EC 3.6.4.6 4 63
  • Vesicle-Fusing ATPase 3
  • 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 botulism and neuronal intranuclear inclusion disease. Among its related pathways are Cytoskeletal Signaling and Vasopressin-regulated water reabsorption. GO annotations related to this gene include protein complex binding and syntaxin 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

Genomic Location for NSF Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 1 Mg(2+) ion per subunit.;
    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 Lys555
  • Modification sites at PhosphoSitePlus

Other Protein References for NSF Gene

Antibody Products

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

Domains for NSF Gene

Gene Families for NSF Gene

HGNC:
  • AATP :ATPases / AAA-type

Graphical View of Domain Structure for InterPro Entry

P46459

UniProtKB/Swiss-Prot:

NSF_HUMAN :
  • P46459
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 IPI 15322554
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity ISS --
GO:0017075 syntaxin-1 binding ISS --
GO:0017137 Rab GTPase binding ISS --
genes like me logo Genes that share ontologies with NSF: view

Phenotypes for NSF Gene

GenomeRNAi human phenotypes for NSF:
genes like me logo Genes that share phenotypes with NSF: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NSF

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting 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
plasma membrane 5
cytosol 4
endosome 3
golgi apparatus 3
endoplasmic reticulum 2
extracellular 2
lysosome 2
vacuole 2
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for NSF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005765 lysosomal membrane IDA 17897319
GO:0005795 Golgi stack ISS --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA 15613468
genes like me logo Genes that share ontologies with NSF: view

Pathways for NSF Gene

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

PCR Array Products

Gene Ontology (GO) - Biological Process for NSF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001921 positive regulation of receptor recycling IDA 15613468
GO:0006200 obsolete ATP catabolic process --
GO:0006813 potassium ion transport IEA --
GO:0006886 intracellular protein transport IMP 22045810
GO:0006887 exocytosis TAS 15613468
genes like me logo Genes that share ontologies with NSF: view

Compounds for NSF Gene

(5) HMDB Compounds for NSF Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Magnesium
  • Magnesium
7439-95-4
Phosphate
  • NFB Orthophosphate
14265-44-2
Water
  • Dihydrogen oxide
7732-18-5

(1) Drugbank Compounds for NSF Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
1-Ethyl-Pyrrolidine-2,5-Dione
target

(23) Novoseek inferred chemical compound relationships for NSF Gene

Compound -log(P) Hits PubMed IDs
n-ethylmaleimide 88.6 70
lm-a1 78.2 1
atpgammas 59.2 2
atp 58 47
sulfamethoxypyridazine 57.6 1
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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NSF

Primer Products

Flow Cytometry Products

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Frontal Cortex (BA9) (5.2) and Brain - Anterior cingulate cortex (BA24) (4.7).

Protein differential expression in normal tissues for NSF Gene

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

Integrated Proteomics: protein expression 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 expressions with NSF: view

Expression partners for NSF Gene

In Situ Assay Products

No data available for 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 MAF
rs11197 -- 46,756,866(+) TTACC(C/T)TCCAC utr-variant-3-prime, nc-transcript-variant
rs117399 -- 46,648,417(+) AACAG(C/T)AGTTG intron-variant
rs142167 -- 46,717,868(+) AGCTG(A/G)CCGAA intron-variant
rs155775 -- 46,665,669(+) CATAG(C/T)GGATA intron-variant
rs155777 -- 46,664,055(+) AGTCC(C/T)GACTG 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

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

MalaCards: The human disease database.

Search for NSF Gene in MalaCards »

(2) Diseases for NSF Gene including...

(2) University of Copenhagen DISEASES for NSF Gene

(5) Novoseek inferred disease relationships for NSF Gene

Disease -log(P) Hits PubMed IDs
tetanus 39.5 4
schizophrenia 0 3
inflammation 0 2
thrombosis 0 1
paralysis 0 3

Relevant External Links for NSF

Genetic Association Database (GAD)
NSF
Human Genome Epidemiology (HuGE) Navigator
NSF
genes like me logo Genes that share disorders with NSF: view

No data available for OMIM , 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
  2. N-ethylmaleimide-sensitive fusion protein: a trimeric ATPase whose hydrolysis of ATP is required for membrane fusion. (PMID: 8051214) Whiteheart S.W. … Rothman J.E. (J. Cell Biol. 1994) 3 23
  3. The N-ethylmaleimide-sensitive fusion protein and alpha-SNAP induce a conformational change in syntaxin. (PMID: 7622514) Hanson P.I. … Jahn R. (J. Biol. Chem. 1995) 3 23
  4. Differential roles for NSF and GRIP/ABP in AMPA receptor cycling. (PMID: 12011465) Braithwaite S.P. … Malenka R.C. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 23
  5. Nitric oxide regulates exocytosis by S-nitrosylation of N-ethylmaleimide-sensitive factor. (PMID: 14567912) Matsushita K. … Lowenstein C.J. (Cell 2003) 3 23

Products for NSF Gene

Sources for NSF Gene

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