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NSF Gene

protein-coding   GIFtS: 71
GCID: GC17P044668

N-Ethylmaleimide-Sensitive Factor

Alzheimer's & Parkinson's Diseases Congress
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at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
N-Ethylmaleimide-Sensitive Factor1 2     NEM-Sensitive Fusion Protein2 3
N-Ethylmaleimide-Sensitive Factor-Like Protein1 2     EC 3.6.4.63 8
Vesicular-Fusion Protein NSF2 3     SKD22
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for NSF Gene:
NSF (N-ethylmaleimide-sensitive factor) is a protein-coding gene. Diseases associated with NSF include neuronal intranuclear inclusion disease, and botulism. GO annotations related to this gene include protein complex binding and syntaxin binding.

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. 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 (N-ethylmaleimide sensitive fusion protein) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NT_167251.2  NT_187663.1  NC_018928.2  
Regulatory elements:
   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 Chromatin IP Primers for NSF

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
44,834,830 bp from pter
Size:
166,796 bases      Orientation:
plus strand

1 alternative location:
Chr17+,NT_167251 1,524,848-1,577,443     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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)
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

Explore proteomics data for NSF at MOPED

Post-translational modifications: 

  • Phosphorylation at Ser-569 interferes with homohexamerization (By similarity)1
  • Ubiquitination2 at Lys555
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for NSF (P46459) (see all 17)
     KIFDDAY  IHTARMR  FEKAENS  QALLVLL 


    See NSF Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006169.2  
    ENSEMBL proteins: 
     ENSP00000381293   ENSP00000461448   ENSP00000460152   ENSP00000458184   ENSP00000458221  
     ENSP00000459646   ENSP00000467779   ENSP00000225282  
    Reactome Protein details: P46459

    NSF Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for NSF
    OriGene Protein Over-expression Lysate for NSF
    OriGene MassSpec for NSF
    OriGene Custom Protein Services for NSF
    GenScript Custom Purified and Recombinant Proteins Services for NSF
    Novus Biologicals NSF Protein
    Novus Biologicals NSF Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NSF

    NSF Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for NSF 
    OriGene Antibodies for NSF
    OriGene Custom Antibody Services for NSF
    Novus Biologicals NSF Antibodies
    Abcam antibodies for NSF
    Cloud-Clone Corp. Antibodies for NSF
    ThermoFisher Antibody for NSF
    LSBio Antibodies in human, mouse, rat for NSF

    NSF Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for NSF
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NSF
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NSF
    Cloud-Clone Corp. CLIAs for NSF


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    AATP: ATPases / AAA-type

    Selected InterPro protein domains (see all 7):
     IPR003959 ATPase_AAA_core
     IPR003960 ATPase_AAA_CS
     IPR004201 Cdc48_dom2
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase

    Graphical View of Domain Structure for InterPro Entry P46459

    ProtoNet protein and cluster: P46459

    3 Blocks protein domains:
    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


    NSF for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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. 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)
    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

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005515protein binding IPI15322554
    GO:0005524ATP binding IEA--
    GO:0017111nucleoside-triphosphatase activity ----
    GO:0019905syntaxin binding IEA--
         
    NSF for ontologies           About GeneDecksing


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

         1 MGI phenotypic allele for Nsf (no phenotypes)

    NSF for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NSF
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NSF

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NSF
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NSF

    miRNA
    Products:
        
    miRTarBase miRNAs that target NSF:
    hsa-mir-100-5p (MIRT048424), hsa-mir-193b-3p (MIRT041241), hsa-mir-215-5p (MIRT024525), hsa-mir-103a-3p (MIRT026983), hsa-mir-192-5p (MIRT026250), hsa-mir-26b-5p (MIRT029069), hsa-mir-877-3p (MIRT036828), hsa-mir-16-5p (MIRT031568)

    Block miRNA regulation of human, mouse, rat NSF using miScript Target Protectors
    Selected qRT-PCR 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
    Products:
        
    OriGene RNAi products in human, mouse, rat for NSF
    Predesigned siRNA for gene silencing in human, mouse, rat NSF

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NSF

    Clone
    Products:
         
    OriGene clones in human, mouse for NSF (see all 6)
    OriGene ORF clones in mouse, rat for NSF
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NSF (NM_006178)
    Sino Biological Human cDNA Clone for NSF
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NSF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NSF

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for NSF
    Browse ESI BIO Cell Lines and PureStem Progenitors for NSF 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSF


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NSF_HUMAN, P46459: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol4
    endosome3
    golgi apparatus3
    endoplasmic reticulum2
    extracellular2
    lysosome2
    vacuole2
    cytoskeleton1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005765lysosomal membrane IDA17897319
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA15613468

    NSF for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for NSF About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Clathrin dependent protein traffic
    Clathrin dependent protein traffic0.66
    Transport Clathrin coated vesicle cycle0.66
    2Synaptic vesicle cycle
    Synaptic Vesicle Pathway0.50
    Synaptic vesicle cycle0.50
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    4Trafficking of AMPA receptors
    Trafficking of AMPA receptors1.00
    Trafficking of GluR2-containing AMPA receptors0.00
    Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity1.00
    5Delta508 CFTR traffic Sorting endosome formation in CF
    Normal wtCFTR traffic Sorting endosome formation0.00
    Delta508 CFTR traffic Sorting endosome formation in CF

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    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

    2 BioSystems Pathways for NSF
        BDNF signaling pathway
    Synaptic Vesicle Pathway


    1 Reactome Pathway for NSF
        Trafficking of GluR2-containing AMPA receptors


    3 Kegg Pathways  (Kegg details for NSF):
        Synaptic vesicle cycle
    GABAergic synapse
    Vasopressin-regulated water reabsorption


    NSF for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NSF: 
              Parkinson's Disease in human mouse rat
              GABA & Glutamate in human mouse rat
              Diabetes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NSF

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

    Selected Interacting proteins for NSF (P464591, 2, 3 ENSP000003812934) via UniProtKB, MINT, STRING, and/or I2D (see all 1168)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GABBR1Q9UBS51, 2, 3, ENSP000003662334EBI-712251,EBI-724156 MINT-2793384 MINT-2793111 MINT-2793092 I2D: score=2 STRING: ENSP00000366233
    ENSG00000206466Q9UBS51, 2, 3EBI-712251,EBI-724156 MINT-2793384 MINT-2793111 MINT-2793092 I2D: score=2 
    ENSG00000206511Q9UBS51, 2, 3EBI-712251,EBI-724156 MINT-2793384 MINT-2793111 MINT-2793092 I2D: score=2 
    ENSG00000232569Q9UBS51, 2, 3EBI-712251,EBI-724156 MINT-2793384 MINT-2793111 MINT-2793092 I2D: score=2 
    ENSG00000232632Q9UBS51, 2, 3EBI-712251,EBI-724156 MINT-2793384 MINT-2793111 MINT-2793092 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001921positive regulation of receptor recycling IDA15613468
    GO:0006813potassium ion transport IEA--
    GO:0006887exocytosis TAS15613468
    GO:0007268synaptic transmission TAS--
    GO:0015031protein transport IEA--

    NSF for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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

    Selected Novoseek inferred 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)



    NSF for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

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    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
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000398238(uc002iku.3 uc010wke.2 uc010wkf.2 uc010wkg.2)
    ENST00000571864 ENST00000486366 ENST00000576040 ENST00000571172 ENST00000575068
    ENST00000576346 ENST00000465370 ENST00000225282

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NSF using miScript Target Protectors
    Selected qRT-PCR 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
    Products:
         
    OriGene RNAi products in human, mouse, rat for NSF
    Predesigned siRNA for gene silencing in human, mouse, rat NSF
    Clone
    Products:
         
    OriGene clones in human, mouse for NSF (see all 6)
    OriGene ORF clones in mouse, rat for NSF
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NSF (NM_006178)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NSF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NSF
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for NSF
    OriGene qSTAR qPCR primer pairs in human, mouse for NSF
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NSF
      QuantiTect SYBR Green Assays in human, mouse, rat NSF
      QuantiFast Probe-based Assays in human, mouse, rat NSF

    Additional mRNA 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.120982980  DT.100822994  DT.120982973 
    DT.120982699  DT.120982753  DT.40290597  DT.92446640  DT.100822992  DT.120983056  DT.40124453  DT.92446648 
    DT.95259723 

    10 AceView cDNA sequences:

    BQ934349 BU431028 CB110309 BP360498 AI014355 BM542647 AW500406 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    NSF expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAGCAGCAC
    NSF Expression
    About this image


    NSF expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebellum
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    NSF Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NSF Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.431279
        Pathway & Disease-focused RT2 Profiler PCR Arrays including NSF: 
              Parkinson's Disease in human mouse rat
              GABA & Glutamate in human mouse rat
              Diabetes in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for NSF
    OriGene qSTAR qPCR primer pairs in human, mouse for NSF
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NSF
    QuantiTect SYBR Green Assays in human, mouse, rat NSF
    QuantiFast Probe-based Assays in human, mouse, rat NSF
    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

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NSF gene from Selected species (see all 26)    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
    N-ethylmaleimide-sensitive factor
    92(a)
    1 ↔ 1
    6(65458608-65542164)
    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 nsf-1 57.98(n)
    56.45(a)
      266842  NM_001083134.3  NP_001076603.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SEC18(YBR080C)4
    SEC181
    ATPase required for vesicular transport between ER more4
    SEC181
    52.46(n)1
    47.73(a)1
      2(400890-398614)4
    8523721, 4  NP_009636.31  NP_009636.14 
    soybean
    (Glycine max)
    eudicotyledons Gma.73522 Transcribed sequence with moderate similarity to protein more 74.21(n)  
    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

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    Paralogs for NSF gene
    4 SIMAP similar genes for NSF using alignment to 10 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, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for NSF (see all 1095)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1478472471,2
    C--44672951(+) CTCCCA/GGGTTC 2 -- int10--------
    rs3760734121,2
    C--44675134(+) TGTTT-/TTGTTGTT 3 -- int1 cds10--------
    rs3688695841,2
    C--44675469(+) TGTTGC/TATACT 2 -- int10--------
    rs1429933741,2
    C--44677102(+) CGGGCA/GTGGTG 2 -- int10--------
    rs1999875951,2
    C--44680373(+) TATTAC/TAGATC 2 -- int10--------
    rs1438060601,2
    C--44682490(+) TTTTTG/TAAAGA 2 -- int10--------
    rs1472763521,2
    C--44685009(+) CAAAAG/TAAATG 2 -- int10--------
    rs2009870341,2
    C--44686027(+) CATAA-/CCCAGC 2 -- int10--------
    rs2006535211,2
    --44686477(+) GTATC-/TTTGTGG 2 -- int10--------
    rs1511941221,2
    C--44686520(+) GTATGA/GGATGC 2 -- int10--------

    HapMap Linkage Disequilibrium report for NSF (44668035 - 44834830 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NSF (see all 43):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv820933CNV Deletion20802225
    esv2656635CNV Deletion23128226
    nsv471402CNV Duplication19718026
    nsv471514CNV Duplication19718026
    dgv3186n71CNV Loss21882294
    nsv833465CNV Loss17160897
    dgv3217n71CNV Loss21882294
    dgv3215n71CNV Loss21882294
    nsv908538CNV Loss21882294
    dgv3201n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 601633    OMIM disorders: --

    Selected diseases for NSF (see all 22):    
    About MalaCards
    neuronal intranuclear inclusion disease    botulism    tetanus    vesiculitis
    transient cerebral ischemia    cocaine dependence    progressive supranuclear palsy    bipolar i disorder
    anorexia nervosa    schizophrenia    ischemia    peritonitis
    cerebritis    parkinson's disease    myocardial infarction    bipolar disorder
    tuberculosis    neuronitis    ovarian cancer    hiv-1

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

    NSF for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    5 Novoseek inferred 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

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    PubMed articles for NSF gene, integrated from 10 sources (see all 289):
    (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. (J. Cell Biol. 1992)
    2. Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population. (PubMed id 21812969)1, 4 Liu X....Lee J.H. (BMC Med. Genet. 2011)
    3. Association study of 182 candidate genes in anorexia nervosa. (PubMed id 20468064)1, 4 Pinheiro A.P....Woodside D.B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    4. Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. (PubMed id 20711177)1, 4 Hamza T.H....Payami H. (Nat. Genet. 2010)
    5. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (PubMed id 20398908)1, 4 Saus E....Estivill X. (J Psychiatr Res 2010)
    6. Genome-wide association study reveals genetic risk underlying Parkinson's disease. (PubMed id 19915575)1, 4 SimA^n-SA!nchez J....Gasser T. (Nat. Genet. 2009)
    7. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    8. Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia. (PubMed id 18077426)1, 4 Lencz T....Malhotra A.K. (Proc. Natl. Acad. Sci. U.S.A. 2007)
    9. Novel haplotypes in 17q21 are associated with progressive supranuclear palsy. (PubMed id 15293277)1, 4 Pastor P....Goate A.M. (Ann. Neurol. 2004)
    10. 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. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 4905 HGNC: 8016 AceView: NSF Ensembl:ENSG00000073969 euGenes: HUgn4905
    ECgene: NSF Kegg: 4905 H-InvDB: NSF

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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