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    NSF N-ethylmaleimide-sensitive factor [ Homo sapiens ]

    Gene ID: 4905, updated on 12-May-2012

    Summary

    Official Symbol
    NSFprovided by HGNC
    Official Full Name
    N-ethylmaleimide-sensitive factorprovided by HGNC
    Primary source
    HGNC:8016
    See related
    Ensembl:ENSG00000073969; HPRD:03380; MIM:601633; Vega:OTTHUMG00000134315
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SKD2

    Genomic context

    Location :
    17q21
    Sequence :
    Chromosome: 17; NC_000017.10 (44668035..44834830)

    Chromosome 17 - NC_000017.10Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 37, member A2 Neighboring gene ADP-ribosylation factor-like 17A Neighboring gene uncharacterized LOC100506162 Neighboring gene putative apoptosis-related protein 2-like Neighboring gene ribosomal protein S7 pseudogene 11 Neighboring gene wingless-type MMTV integration site family, member 3 Neighboring gene uncharacterized LOC644366

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_006169.1 NP_006130.1 CD28    BIND  PubMed CD28 interacts with NSF. 
    P46459 P49407 ARRB1    HPRD  PubMed  
    P46459 Q9UKR5 C14orf1    HPRD  PubMed  
    P46459 P10747 CD28    HPRD  PubMed  
    P46459 P14416 DRD2    HPRD  PubMed  
    P46459 P60228 EIF3E    HPRD  PubMed  
    P46459 FUN14 domain containing 2 FUNDC2    HPRD  PubMed  
    P46459 O95166 GABARAP    HPRD  PubMed  
    P46459 P60520 GABARAPL2    HPRD  PubMed  
    P46459 Q9UBS5 GABBR1    HPRD  PubMed  
    P46459 O75899 GABBR2    HPRD  PubMed  
    P46459 O95249 GOSR1    HPRD  PubMed  
    P46459 P42262 GRIA2    HPRD  PubMed  
    P46459 P42263 GRIA3    HPRD  PubMed  
    P46459 Q9P2H0 KIAA1377    HPRD  PubMed  
    P46459 Q9Y383 LUC7L2    HPRD  PubMed  
    P46459 P54920 NAPA    HPRD  PubMed  
    P46459 Q99747 NAPG    HPRD  PubMed  
    P46459 P46459 NSF    HPRD  PubMed  
    P46459 P43378 PTPN9    HPRD  PubMed  
    P46459 P05386 RPLP1    HPRD  PubMed  
    P46459 Q16623 STX1A    HPRD  PubMed  
    P46459 Q12846 STX4    HPRD  PubMed  
    P46459 Q9UNK0 STX8    HPRD  PubMed  
    P46459 O60763 USO1    HPRD  PubMed  
    P46459 Q9P0L0 VAPA    HPRD  PubMed  
    BioGRID:110960 BioGRID:106901 ARRB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110960 BioGRID:118855 BABAM1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110960 BioGRID:116332 C14orf1    BioGRID  PubMed Two-hybrid 
    BioGRID:110960 BioGRID:107840 CSNK1G3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110960 BioGRID:113999 EEA1    BioGRID  PubMed Co-fractionation 
    BioGRID:110960 BioGRID:109857 EIF3E    BioGRID  PubMed Two-hybrid 
    BioGRID:110960 BioGRID:122440 FUNDC2    BioGRID  PubMed Two-hybrid 
    BioGRID:110960 BioGRID:114903 GOSR1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110960 BioGRID:121617 KIAA1377    BioGRID  PubMed Two-hybrid 
    BioGRID:110960 BioGRID:119646 LUC7L2    BioGRID  PubMed Two-hybrid 
    BioGRID:110960 BioGRID:114305 NAPA    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
    BioGRID:110960 BioGRID:114304 NAPG    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110960 BioGRID:110960 NSF    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110960 BioGRID:111551 PRKAB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110960 BioGRID:119817 RAB24    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110960 BioGRID:114161 RGS20    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110960 BioGRID:112095 RPLP1    BioGRID  PubMed Two-hybrid 
    BioGRID:110960 BioGRID:115573 SAP18    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110960 BioGRID:116860 SCFD1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110960 BioGRID:114303 SNAP23    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110960 BioGRID:114748 SNAP29    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110960 BioGRID:117191 STX12    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110960 BioGRID:112680 STX5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110960 BioGRID:115522 STX6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110960 BioGRID:114003 STX7    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110960 BioGRID:114867 STX8    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110960 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110960 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110960 BioGRID:115753 VTI1B    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    • Homologs of the NSF gene: The NSF gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, , S.pombe, , and N.crassa.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    • GABAergic synapse, organism-specific biosystem (from KEGG)
      GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • GABAergic synapse, conserved biosystem (from KEGG)
      GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity, organism-specific biosystem (from REACTOME)
      Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity, organism-specific biosystemExcitatory synaptic transmission in the brain is carried out by glutamate receptors through the activation of both ionotropic and metabotropic receptors. Ionotropic glutamate receptors are of three ...
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystem (from REACTOME)
      Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystemThe neurotransmitter in the synaptic cleft released by the pre-synaptic neuron binds specific receptors located on the post-synaptic terminal. These receptors are either ion channels or G protein cou...
    • Synaptic vesicle cycle, organism-specific biosystem (from KEGG)
      Synaptic vesicle cycle, organism-specific biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
    • Synaptic vesicle cycle, conserved biosystem (from KEGG)
      Synaptic vesicle cycle, conserved biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
    • Trafficking of AMPA receptors, organism-specific biosystem (from REACTOME)
      Trafficking of AMPA receptors, organism-specific biosystemRepetitive presynaptic activity causes long lasting changes in the postsynaptic transmission by changing the type and the number of AMPA receptors. These changes are brought about by trafficking mec...
    • Trafficking of GluR2-containing AMPA receptors, organism-specific biosystem (from REACTOME)
      Trafficking of GluR2-containing AMPA receptors, organism-specific biosystemTrafficking of GluR2-containing receptors is governed by protein protein interactions that are regulated by phosphorylation events. GluR2 binds NSF and AP2 in the proximal C terminal region and binds...
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
    • Vasopressin-regulated water reabsorption, organism-specific biosystem (from KEGG)
      Vasopressin-regulated water reabsorption, organism-specific biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...
    • Vasopressin-regulated water reabsorption, conserved biosystem (from KEGG)
      Vasopressin-regulated water reabsorption, conserved biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity, coupled IEA
    Inferred from Electronic Annotation
    more info
     
    PDZ domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Rab GTPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein C-terminus binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    syntaxin binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    exocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane fusion TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of receptor recycling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    potassium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic transmission TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    Golgi stack IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    dendritic shaft IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    vesicle-fusing ATPase
    Names
    vesicle-fusing ATPase
    NEM-sensitive fusion protein
    vesicular-fusion protein NSF
    N-ethylmaleimide-sensitive fusion protein
    N-ethylmaleimide-sensitive factor-like protein
    NP_006169.2

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_006178.3NP_006169.2  vesicle-fusing ATPase

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the protein.
      Source sequence(s)
      AK226078, BC030613, DB460965
      Consensus CDS
      CCDS42354.1
      UniProtKB/Swiss-Prot
      P46459
      Related
      ENSP00000381293, OTTHUMP00000166031, ENST00000398238, OTTHUMT00000259348
      Conserved Domains (5) summary
      cd00009
      Location:254397
      Blast Score: 240
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      TIGR01243
      Location:159606
      Blast Score: 564
      CDC48; AAA family ATPase, CDC48 subfamily
      smart01073
      Location:683
      Blast Score: 186
      CDC48_N; Cell division protein 48 (CDC48) N-terminal domain
      pfam02359
      Location:684
      Blast Score: 185
      CDC48_N; Cell division protein 48 (CDC48), N-terminal domain
      cl08380
      Location:111159
      Blast Score: 140
      CDC48_2; Cell division protein 48 (CDC48), domain 2

    RNA

    1. NR_040116.1 RNA Sequence

      Description
      Transcript Variant: This variant (2) lacks a coding exon compared to variant 1. This results in a frameshift and premature stop codon; the transcript is a candidate for nonsense-mediated decay (NMD) and thus is represented without protein annotation.
      Source sequence(s)
      AK294001, BC013314, DB460965

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000017.10 Reference GRCh37.p5 Primary Assembly

      Range
      44668035..44834830
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_9

    Genomic

    1. NT_167251.1 Reference GRCh37.p5 ALT_REF_LOCI_9

      Range
      1524848..1577443
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000149.1 Alternate HuRef

      Range
      40092157..40095514
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC004098.1 (31836..128195) None
    genomic AC138645.3 (30835..200419) None
    genomic AC138688.2 (145315..182613) None
    genomic AC217769.1 (86954..195358) None
    genomic AC217775.1 (112975..165617) None
    genomic AC217778.1 None
    genomic AC217780.1 (54738..151250) None
    genomic CH471231.2 EAW57706.1
      EAW57707.1
    genomic CQ871246.1 CAH56804.1
    mRNA AF102846.2 AAF04745.2
    mRNA AF135168.1 AAF70545.1
    mRNA AK226078.1 None
    mRNA AK290204.1 BAF82893.1
    mRNA AK294001.1 BAG57363.1
    mRNA AK294727.1 BAG57874.1
    mRNA AK294886.1 BAG57980.1
    mRNA AK299031.1 BAH12933.1
    mRNA AK299786.1 BAG61667.1
    mRNA AK316057.1 BAH14428.1
    mRNA BC013314.2 AAH13314.2
    mRNA BC030613.2 AAH30613.1
    mRNA BM451383.1 None
    mRNA DB460965.1 None
    mRNA U03985.1 AAA17411.1
    mRNA U80997.1 AAG23890.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P46459.3 GenPept UniProtKB/Swiss-Prot:P46459
    Q96D47 GenPept UniProtKB/TrEMBL:Q96D47
    Q9H3V6 GenPept UniProtKB/TrEMBL:Q9H3V6

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