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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NSF Gene

protein-coding   GIFtS: 68
GCID: GC17P044668

N-ethylmaleimide-sensitive factor

 Explore 23 diseases affiliated with
NSF via our new
 Human Malady Compendium 
Biological research products
for NSF
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
N-Ethylmaleimide-Sensitive Factor1 2     NEM-Sensitive Fusion Protein2 3
SKD21 2     EC 3.6.4.63 8
Vesicular-Fusion Protein NSF2 3     N-Ethylmaleimide-Sensitive Factor-Like Protein2
N-Ethylmaleimide-Sensitive Fusion Protein2 3     Vesicle-Fusing ATPase2

External Ids:    HGNC: 80161   Entrez Gene: 49052   Ensembl: ENSG000000739697   OMIM: 6016335   UniProtKB: P464593   

Export aliases for NSF gene to outside databases

Previous GC identifers: GC17P044205 GC17P047067 GC17P045050 GC17P045143 GC17P041805 GC17P042024 GC17P040092


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: NSF_HUMAN, P46459
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. Seem 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 (N-ethylmaleimide sensitive fusion protein)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  NT_167251.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NSF gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 2   POU2F1   POU2F1a   POU2F1b   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNSF promoter sequence
   Search SABiosciences Chromatin IP Primers for NSF

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NSF


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q21

NSF Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NSF gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P044668:  view genomic region     (about GC identifiers)

Start:
44,668,035 bp from pter      End:
44,834,833 bp from pter
Size:
166,799 bases      Orientation:
plus strand

1 alternative location:
Chr17+,ALT_REF_LOCI_9 44,833,684-44,886,326     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NSF_HUMAN, P46459 (See protein sequence)
Recommended Name: Vesicle-fusing ATPase  
Size: 744 amino acids; 82594 Da
Cofactor: Binds 1 magnesium ion per subunit (By similarity)
Subunit: 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)
Subcellular location: Cytoplasm
Sequence caution: Sequence=AAA17411.1; Type=Erroneous initiation;
Secondary accessions: A8K2D9 Q8N6D7 Q9UKZ2

Explore the universe of human proteins at neXtProt for NSF: NX_P46459

Post-translational modifications:

  • Phosphorylation at Ser-569 interferes with homohexamerization (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P46459

  • 4/17 DME Specific Peptides for NSF (P46459) (see all 17)
     KIFDDAY  IHTARMR  FEKAENS  QALLVLL 

    NSF Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_006169.2  
    ENSEMBL proteins: 
     ENSP00000381293   ENSP00000459393   ENSP00000461448   ENSP00000460152   ENSP00000458184  
     ENSP00000458221   ENSP00000459646   ENSP00000467779   ENSP00000225282  
    Reactome Protein details: P46459
    Human Recombinant Protein Products: 
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    OriGene Purified Protein: NSF
    OriGene Protein Over-expression Lysate: NSF
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    Novus Biologicals NSF Protein
    Novus Biologicals NSF Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for NSF

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005795Golgi stack ----
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA15613468
    GO:0043198dendritic shaft ----


    NSF for ontologies           About GeneDecksing



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    Uscn Antibodies for NSF
    ThermoFisher Antibody for NSF

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    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for NSF


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    NSF for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR003959 ATPase_AAA_core
     IPR003960 ATPase_AAA_CS
     IPR004201 Cdc48_dom2
     IPR003593 AAA+_ATPase
     IPR009010 Asp_de-COase-like_fold

    Graphical View of Domain Structure for InterPro Entry P46459

    ProtoNet protein and cluster: P46459

    3 Blocks protein families:
    IPB003338 AAA ATPase VAT
    IPB003960 AAA-protein subdomain
    IPB004201 Cell division protein 48


    UniProtKB/Swiss-Prot: NSF_HUMAN, P46459
    Similarity: Belongs to the AAA ATPase family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: NSF_HUMAN, P46459
    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. Seem 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)
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Genatlas biochemistry entry for NSF:
    N-ethylmaleimide sensitive factor

    Enzyme Number (IUBMB): EC 3.6.4.61 2

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NSF
    8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate NSF (see all 28):
    hsa-miR-579 hsa-miR-142-3p hsa-miR-3678-3p hsa-miR-623 hsa-miR-193a-3p hsa-miR-3673 hsa-miR-137 hsa-miR-25
    SwitchGear 3'UTR luciferase reporter plasmidNSF 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NSF (see all 7)
    OriGene shRNA RFP: NSF
    OriGene siRNA: NSF
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NSF

    Gene Editing
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    Clone
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: NSF (NM_006178)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NSF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NSF 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSF

    Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16417406
    GO:0005524ATP binding IEA--
    GO:0008022protein C-terminus binding ----
    GO:0016887ATPase activity ----
    GO:0017111nucleoside-triphosphatase activity ----


    NSF for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for NSF:
     Increased cell number in G2M,  

    Animal Models:
         1 MGI phenotypic allele for Nsf (no phenotypes)

    NSF for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Transmission across Chemical Synapses
    Transmission across Chemical Synapses1.00
    Neuronal System0.67
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    2Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity
    Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity1.00
    Trafficking of GluR2-containing AMPA receptors0.53
    Trafficking of AMPA receptors1.00
    3Normal wtCFTR traffic / Sorting endosome formation
    Normal wtCFTR traffic / Sorting endosome formation1.00
    Delta508-CFTR traffic / Sorting endosome formation in CF0.77
    4Clathrin-dependent protein traffic
    Clathrin-dependent protein traffic1.00
    Transport_Clathrin-coated vesicle cycle0.66
    5Neuroscience
    Neuroscience1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for NSF
        Clathrin-dependent protein traffic


    2 Cell Signaling Technology (CST) Pathways for NSF
        Neuroscience
    Cytoskeletal Signaling

    3 GeneGo (Thomson Reuters) Pathways for NSF
        Normal wtCFTR traffic / Sorting endosome formation
    Delta508-CFTR traffic / Sorting endosome formation in CF
    Transport Clathrin-coated vesicle cycle

    1 BioSystems Pathway for NSF 
        Synaptic Vesicle Pathway

    5/6        Reactome Pathways for NSF (see all 6)
        Trafficking of AMPA receptors
    Transmission across Chemical Synapses
    Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity
    Neuronal System
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell


    1         Kegg Pathway  (Kegg details for NSF):
        Vasopressin-regulated water reabsorption


    NSF for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NSF

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/1028 Interacting proteins for NSF (P464592, 3 ENSP000003812934) via UniProtKB, MINT, STRING, and/or I2D (see all 1028)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GABBR1Q9UBS52, 3, ENSP000003662334MINT-2793384 MINT-2793111 MINT-2793092 I2D: score=2 STRING: ENSP00000366233
    C7orf55-LUC7L2Q9Y3832, 3MINT-7945693 MINT-64921 I2D: score=5 
    LUC7L2Q9Y3832, 3MINT-7945693 MINT-64921 I2D: score=5 
    PTPN9P433782, 3, ENSP000003035544MINT-8217359 MINT-8217371 I2D: score=5 STRING: ENSP00000303554
    GRIA2P422622, 3, ENSP000002644264MINT-2791974 MINT-2791723 I2D: score=4 STRING: ENSP00000264426
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001921positive regulation of receptor recycling IDA15613468
    GO:0006200ATP catabolic process ----
    GO:0006813potassium ion transport IEA--
    GO:0006887exocytosis TAS15613468
    GO:0007268synaptic transmission TAS--


    NSF for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NSF for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NSF

    5 HMDB Compounds for NSF    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 DrugBank Compound for NSF    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1-Ethyl-Pyrrolidine-2,5-Dione-- --target--17139284 17016423 10592235

    10/23 Novoseek chemical compound relationships for NSF gene (see all 23)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    n-ethylmaleimide 88.6 117 7812046 (3), 1999460 (2), 16165270 (2), 15037235 (2) (see all 60)
    lm-a1 78.2 1 15037235 (1)
    atpgammas 59.2 3 11931741 (1), 15126634 (1)
    atp 58 65 8051214 (5), 8550603 (4), 7493945 (3), 9697855 (3) (see all 29)
    sulfamethoxypyridazine 57.6 1 15610906 (1)
    mgatp 37.3 2 9771883 (1), 8702751 (1)
    glutamate 30.1 10 9861668 (1), 15630087 (1), 15858065 (1), 16760338 (1) (see all 7)
    nmda 25.2 8 15944123 (2), 12441055 (2), 12011465 (1)
    calcium 23.3 26 7501022 (2), 9031603 (2), 10954749 (2), 7835334 (1) (see all 13)
    phalloidin 22.2 1 11404404 (1)

    Search CenterWatch for drugs/clinical trials and news about NSF 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NSF gene: 
    NM_006178.3  

    Unigene Cluster for NSF:

    N-ethylmaleimide-sensitive factor
    Hs.431279  [show with all ESTs]
    Unigene Representative Sequence: NM_006178
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000398238(uc002iku.3 uc010wke.2 uc010wkf.2 uc010wkg.2)
    ENST00000571510 ENST00000571864 ENST00000486366 ENST00000576040 ENST00000571172
    ENST00000575068 ENST00000576346 ENST00000465370 ENST00000225282

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NSF
    8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate NSF (see all 28):
    hsa-miR-579 hsa-miR-142-3p hsa-miR-3678-3p hsa-miR-623 hsa-miR-193a-3p hsa-miR-3673 hsa-miR-137 hsa-miR-25
    SwitchGear 3'UTR luciferase reporter plasmidNSF 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NSF

    Additional cDNA sequence: 

    AF102846.2 AF135168.1 AK025172.1 AK226078.1 AK290204.1 AK294001.1 AK299031.1 AK299786.1 
    AK316057.1 AL049276.1 BC013314.2 BC030613.2 NR_040116.1 U03985.1 U80997.1 

    17 DOTS entries:

    DT.120982834  DT.418549  DT.120982824  DT.100822995  DT.92446651  DT.100822994  DT.120982980  DT.120982973 
    DT.120982699  DT.120982753  DT.40290597  DT.92446640  DT.100822992  DT.120983056  DT.40124453  DT.92446648 
    DT.95259723 

    10 AceView cDNA sequences:

    CB110309 BU431028 BQ934349 BP360498 AW500406 BM542647 AI014355 BM149063 
    AK025172 BI544287 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NSF expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAAGCAGCAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See NSF Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NSF

    SOURCE GeneReport for Unigene cluster: Hs.431279
        SABiosciences Expression via Pathway-Focused PCR Arrays including NSF: 
              Parkinson's Disease in human mouse rat
              GABA & Glutamate in human mouse rat
              Diabetes in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSF

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NSF gene from 10/39 species (see all 39)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nsf1 , 5 N-ethylmaleimide sensitive fusion protein1, 5 89.2(n)1
    98.12(a)1
      11 (67.54 cM)5
    181951  NM_008740.41  NP_032766.21 
     1038217825 
    chicken
    (Gallus gallus)
    Aves NSF1 N-ethylmaleimide-sensitive factor 81.71(n)
    94.19(a)
      419972  NM_001024456.1  NP_001019627.1 
    lizard
    (Anolis carolinensis)
    Reptilia NSF6
    --
    91(a)
    1 ↔ 1
    6(65479395-65542164)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.222462 Xenopus laevis transcribed sequence with moderate similarity more 77.62(n)    CD252804.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj33g112 Danio rerio similar to N-ethylmaleimide-sensitive factor, more 76.78(n)    BC050490.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nsf21 , 3 ER to Golgi transport3
    NEM-sensitive fusion protein 21
    62(a)
    (best of 2)3
    60.32(n)1
    63.81(a)1
      3 87F153
    416941  NM_176499.11  NP_788676.11 
    worm
    (Caenorhabditis elegans)
    Secernentea nsf-11 Protein NSF-1 57.29(n)
    55.42(a)
      266842  NM_001083134.2  NP_001076603.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SEC18(YBR080C)4
    SEC181
    ATPase required for vesicular transport between ER more4
    Sec18p1
    52.44(n)1
    47.51(a)1
      2(400890-398614)4
    8523721, 4  NP_009636.31  NP_009636.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons NSF6
    vesicle-fusing ATPase
    43(a)
    1 ↔ 1
    4(2489417-2495766)
    rice
    (Oryza sativa)
    Liliopsida Os.222802 Oryza sativa SS652 mRNA for SEC18, partial cds 73.47(n)    AK072976.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NSF gene
    4 SIMAP similar genes for NSF using alignment to 11 protein entries:     NSF_HUMAN (see all proteins):
    PSMC1    VCP    PSMC5    PSMC2

    NSF for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NSF
    PGOHUM00000237417


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/888 NCBI SNPs in NSF are shown (see all 888    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1478472471,2
    --44672951(+) CTCCCA/GGGTTC 2 -- int10--------
    rs20123331,2
    C--44680207(+) GGTGTG/CGGGAT 2 -- int11Minor allele frequency- C:0.00NA 2
    rs2009870341,2
    --44686027(+) ATAAT-/CCCAGC 2 -- int10--------
    rs2006535211,2
    --44686477(+) GTATC-/TTTGTGG 2 -- int10--------
    rs75038091,2
    C--44687407(+) tctctC/Ttcttt 2 -- int12Minor allele frequency- T:0.00NA 4
    rs72096641,2
    C--44687411(+) TCTCTC/TTCTTT 2 -- int11Minor allele frequency- T:0.00NA 2
    rs1928477001,2
    --44687454(+) TCTTTC/GTTTTC 2 -- int10--------
    rs1408570991,2
    --44690424(+) AGGCCA/GAGAGG 2 -- int10--------
    rs1478771131,2
    --44699627(+) GACCAG/TCCTGG 2 -- int10--------
    rs1169565541,2
    F,--44699851(+) AAATAG/AATAAA 2 -- int11Minor allele frequency- A:0.07NA 120

    HapMap Linkage Disequilibrium report for NSF (44668035 - 44834833 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 32 variations for NSF
         15/27 CNVs (see all 27): 88502 49872 72953 34570 8850 38843 0207 4038 0803 49870 49871 2228 30837 77634 0327
         5 Indels: 88505 77637 77638 88504 77639

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NSF
    DNA2.0 Custom Variant and Variant Library Synthesis for NSF

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    NSF for disorders           About GeneDecksing

    OMIM gene information: 601633    OMIM disorders: --

    20/23 diseases for NSF (see all 23):    About MalaCards
    neuronal intranuclear inclusion disease    supranuclear palsy    progressive supranuclear palsy    transient cerebral ischemia
    bipolar i disorder    anorexia nervosa    botulism    tetanus
    myocardial infarction    thrombosis    stomatitis    parkinson's disease
    ischemia    cerebritis    seizures    schizophrenia
    peritonitis    cholesterol    tuberculosis    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for NSF:
    Botulism     Tetanus

    5 Novoseek disease relationships for NSF gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tetanus 39.5 9 10811829 (1), 16112083 (1), 8360142 (1), 15469990 (1)
    schizophrenia 0 3 16165270 (2), 11086983 (1)
    inflammation 0 3 14567912 (1), 15778265 (1)
    thrombosis 0 2 14567912 (1)
    paralysis 0 4 11593041 (2), 10594091 (1)

    Genetic Association Database (GAD): NSF
    Human Genome Epidemiology (HuGE) Navigator: NSF (8 documents)

    Export disorders for NSF gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NSF gene, integrated from 9 sources (see all 284):
    (articles sorted by number of sources associating them with NSF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A multisubunit particle implicated in membrane fusion. (PubMed id 1315316)1, 3, 9 Wilson D.W....Rothman J.E. (1992)
    2. Novel haplotypes in 17q21 are associated with progressive supranuclear palsy. (PubMed id 15293277)1, 4 Pastor P....Goate A.M. (2004)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Localization of human and mouse N-ethylmaleimide-sens itive factor (NSF) gene: a two-domain member of the AAA family that is involved in membrane fusion. (PubMed id 8875895)1, 3 Hoyle J....Fisher E.M. (1996)
    5. N-ethylmaleimide-sensitive fusion protein: a trimeric ATPase whose hydrolysis of ATP is required for membrane fusion. (PubMed id 8051214)1, 9 Whiteheart S.W....Rothman J.E. (1994)
    6. N-Ethylmaleimide-sensitive factor (NSF) and alpha-soluble NSF attachment proteins (SNAP) mediate dissociation of GS28-syntaxin 5 Golgi SNAP receptors (SNARE) complex. (PubMed id 9325254)1, 9 Subramaniam V.N....Hong W. (1997)
    7. N-ethylmaleimide-sensitive factor regulates beta2 adrenoceptor trafficking and signaling in cardiomyocytes. (PubMed id 17510209)1, 9 Wang Y....Xiang Y. (2007)
    8. The N-ethylmaleimide-sensitive fusion protein and alpha-SNAP induce a conformational change in syntaxin. (PubMed id 7622514)1, 9 Hanson P.I....Jahn R. (1995)
    9. PTP1B dephosphorylates N-ethylmaleimide-sensitive factor and elicits SNARE complex disassembly during human sperm exocytosis. (PubMed id 19208619)1, 9 Zarelli V.E....Tomes C.N. (2009)
    10. Control of vesicle fusion by a tyrosine phosphatase. (PubMed id 15322554)1, 9 Huynh H....Mustelin T. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4905 HGNC: 8016 AceView: NSF Ensembl:ENSG00000073969 euGenes: HUgn4905
    ECgene: NSF Kegg: 4905 H-InvDB: NSF

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NSF Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NSF gene:
    Search GeneIP for patents involving NSF

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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