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Aliases for NSF Gene

Aliases for NSF Gene

  • N-Ethylmaleimide Sensitive Factor, Vesicle Fusing ATPase 2 3 5
  • 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 58
  • N-Ethylmaleimide-Sensitive Factor 2
  • N-Ethylmaleimide Sensitive Factor 2
  • Vesicle-Fusing ATPase 3
  • SEC18 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, Vesicle Fusing ATPase) is a Protein Coding gene. Diseases associated with NSF include Tetanus and Neuronal Intranuclear Inclusion Disease. Among its related pathways are GABAergic synapse and Delta508-CFTR traffic / Sorting endosome formation in CF. 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

Additional gene information for NSF Gene

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

Genomics for NSF Gene

Regulatory Elements for NSF Gene

Enhancers for NSF Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H046595 0.8 dbSUPER 0.4 +9.7 9708 8 ZNF146 ZBTB21 INSM2 FEZF1 ZNF2 ZNF366 GLI2 ZNF239 ZNF600 PRDM10 NSF RPS7P11
GH17H046579 0.7 ENCODE dbSUPER 0.4 -10.8 -10786 0 PKNOX1 SP2 ZNF18 ARL17A NSF
GH17H046617 0.5 Ensembl dbSUPER 0.3 +27.5 27533 0 NSF RPS7P11
GH17H046589 0.2 dbSUPER 0.7 +2.0 1982 6 LINC02210 NSF RPS7P11
GH17H046628 0.2 dbSUPER 0.3 +38.9 38921 2 NSF RPS7P11
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NSF on UCSC Golden Path with GeneCards custom track

Promoters for NSF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000095081 231 1801

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

Selected DME Specific Peptides for NSF Gene

P46459:
  • IIFDEIDAICK
  • KHVKGILLYGPPG
  • FEKAENS
  • ARQIGKMLN
  • LNNILVIGMTNR
  • QALLVLL
  • SIINPDW
  • RKLFADAEEE
  • YVPIGPRFSNL
  • TKNFSGAELEGLVRAAQS
  • KLFGLLVKDIEAMDPSILKGEPA
  • FDKAKQCIGTMTIEIDFLQKK
  • KMGIGGLDKEF
  • KIFDDAY
  • IHTARMR
  • MLNAREPK
  • DEALLRPGRLEV

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)
  • Abcam antibodies for NSF

Domains & Families for NSF Gene

Gene Families for NSF Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Transporters

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

Phenotypes From GWAS Catalog for NSF Gene

Gene Ontology (GO) - Molecular Function for NSF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding ISS --
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 15322554
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity 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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NSF
  • Applied Biological Materials Clones for NSF
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NSF gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
lysosome 5
golgi apparatus 4
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NSF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005765 lysosomal membrane IDA 17897319
GO:0005795 Golgi stack ISS --
GO:0005829 cytosol IDA,TAS --
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:0001921 positive regulation of receptor recycling IDA 15613468
GO:0006810 transport IEA --
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

Drugs & Compounds for NSF Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
1-Ethyl-Pyrrolidine-2,5-Dione Experimental Pharma Target 0
ATP Nutra Agonist 0
Magnesium Nutra 0

(9) 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
genes like me logo Genes that share compounds with NSF: view

Transcripts for NSF Gene

Unigene Clusters for NSF Gene

N-ethylmaleimide-sensitive factor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NSF
  • Applied Biological Materials Clones for NSF
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for NSF Gene



Protein tissue co-expression partners for NSF Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NSF Gene:

NSF

SOURCE GeneReport for Unigene cluster for NSF Gene:

Hs.431279

Evidence on tissue expression from TISSUES for NSF Gene

  • Nervous system(5)
  • Liver(4.5)
  • Skin(3.8)
  • Lung(3.4)
  • Kidney(3.3)
  • Stomach(3.3)
  • Heart(3)
  • Intestine(3)
  • Adrenal gland(2.8)
  • Muscle(2.8)
  • Pancreas(2.6)
  • Eye(2.4)
  • Blood(2)
genes like me logo Genes that share expression patterns with NSF: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia NSF 33 34
  • 99.91 (n)
oppossum
(Monodelphis domestica)
Mammalia NSF 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NSF 33 34
  • 93.95 (n)
cow
(Bos Taurus)
Mammalia NSF 33 34
  • 93.23 (n)
mouse
(Mus musculus)
Mammalia Nsf 33 16 34
  • 89.2 (n)
rat
(Rattus norvegicus)
Mammalia Nsf 33
  • 88.98 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NSF 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves NSF 33 34
  • 81.71 (n)
lizard
(Anolis carolinensis)
Reptilia NSF 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nsf 33
  • 78.59 (n)
Str.20241 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.22246 33
zebrafish
(Danio rerio)
Actinopterygii nsfb 34
  • 82 (a)
OneToMany
nsfa 33 34
  • 76.29 (n)
wufj33g11 33
fruit fly
(Drosophila melanogaster)
Insecta comt 35 34
  • 62 (a)
Nsf2 35 33 34
  • 60.32 (n)
CG31495 34
  • 36 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012684 33
  • 61.35 (n)
worm
(Caenorhabditis elegans)
Secernentea nsf-1 33 34
  • 57.98 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER169C 33
  • 52.61 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC18 33 34
  • 52.46 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C14520g 33
  • 51.69 (n)
soybean
(Glycine max)
eudicotyledons Gma.7352 33
rice
(Oryza sativa)
Liliopsida Os.22280 33
wheat
(Triticum aestivum)
Liliopsida Ta.10189 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8647 34
  • 55 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sec18 33
  • 52.37 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03387 33
  • 51.9 (n)
Species where no ortholog for NSF was found in the sources mined by GeneCards:
  • 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
rs1000107824 -- 46,667,916(+) ATCTT(C/T)TTGTT intron-variant
rs1000128205 -- 46,706,740(+) GTCCC(A/G)CTTTA intron-variant
rs1000148147 -- 46,722,417(+) GTACT(A/G)GTCTG intron-variant
rs1000157251 -- 46,746,222(+) ATAAT(A/G)ATTAC intron-variant
rs1000217818 -- 46,631,534(+) TGAAC(A/G)CTTGT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv127e55 CNV gain 17911159
dgv16n14 CNV loss 18776910
dgv29e213 CNV loss 24956385
dgv30e213 CNV gain 24956385
dgv3188n100 CNV gain 25217958
dgv3190n100 CNV gain 25217958
dgv3196n100 CNV gain+loss 25217958
dgv3198n100 CNV loss 25217958
dgv3233n100 CNV gain 25217958
dgv3241n100 CNV loss 25217958
dgv3248n100 CNV loss 25217958
dgv3249n100 CNV gain 25217958
dgv3250n100 CNV gain+loss 25217958
dgv3251n100 CNV loss 25217958
dgv3253n100 CNV loss 25217958
dgv3254n100 CNV gain+loss 25217958
dgv3255n100 CNV gain 25217958
dgv3256n100 CNV loss 25217958
dgv3257n100 CNV loss 25217958
dgv3258n100 CNV gain+loss 25217958
dgv3259n100 CNV loss 25217958
dgv3260n100 CNV loss 25217958
dgv5628n54 CNV loss 21841781
dgv5644n54 CNV gain 21841781
dgv5647n54 CNV loss 21841781
dgv5648n54 CNV gain+loss 21841781
dgv5651n54 CNV loss 21841781
dgv5657n54 CNV loss 21841781
dgv5658n54 CNV loss 21841781
dgv5659n54 CNV loss 21841781
dgv5660n54 CNV gain+loss 21841781
dgv5661n54 CNV loss 21841781
dgv5662n54 CNV gain 21841781
dgv5663n54 CNV gain 21841781
dgv5664n54 CNV loss 21841781
dgv5665n54 CNV gain 21841781
dgv5666n54 CNV gain 21841781
dgv5667n54 CNV loss 21841781
dgv939e212 CNV gain 25503493
dgv940e212 CNV loss 25503493
esv1003686 CNV gain 20482838
esv21783 CNV gain+loss 19812545
esv2656635 CNV deletion 23128226
esv2758692 CNV gain+loss 17122850
esv2760451 CNV gain+loss 21179565
esv2762433 CNV gain+loss 21179565
esv33048 CNV gain+loss 17666407
esv3893019 CNV gain+loss 25118596
esv3893020 CNV gain 25118596
esv3893021 CNV gain 25118596
esv3893023 CNV gain+loss 25118596
esv3893024 CNV gain 25118596
nsv1070410 CNV deletion 25765185
nsv1126463 CNV deletion 24896259
nsv1133408 CNV deletion 24896259
nsv1146669 OTHER inversion 26484159
nsv1160494 CNV deletion 26073780
nsv428343 CNV gain+loss 18775914
nsv433451 CNV gain 18776910
nsv442749 CNV gain+loss 18776908
nsv469644 CNV gain+loss 16826518
nsv471402 CNV gain 19718026
nsv471514 CNV gain 19718026
nsv471700 CNV gain+loss 15918152
nsv483083 CNV gain 15286789
nsv510715 CNV deletion 20534489
nsv516807 CNV gain+loss 19592680
nsv575266 CNV gain 21841781
nsv575387 CNV gain+loss 21841781
nsv575388 CNV gain 21841781
nsv575389 CNV loss 21841781
nsv575421 CNV gain+loss 21841781
nsv820933 CNV deletion 20802225
nsv821687 CNV gain 15273396
nsv833464 CNV gain 17160897
nsv833465 CNV loss 17160897
nsv9564 CNV gain+loss 18304495
nsv960496 CNV duplication 23825009
nsv978553 CNV duplication 23825009

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
infant botulism
  • infant intestinal 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 DW … Rothman JE (The Journal of cell biology 1992) 2 3 22 60
  2. Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population. (PMID: 21812969) Liu X … Lee JH (BMC medical genetics 2011) 3 45 60
  3. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (PMID: 20398908) Saus E … Estivill X (Journal of psychiatric research 2010) 3 45 60
  4. Association study of 182 candidate genes in anorexia nervosa. (PMID: 20468064) Pinheiro AP … Woodside DB (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 45 60
  5. Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. (PMID: 20711177) Hamza TH … Payami H (Nature genetics 2010) 3 45 60

Products for NSF Gene

  • Addgene plasmids for NSF

Sources for NSF Gene

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