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    NSF N-ethylmaleimide sensitive factor, vesicle fusing ATPase [ Homo sapiens (human) ]

    Gene ID: 4905, updated on 7-Jul-2024

    Summary

    Official Symbol
    NSFprovided by HGNC
    Official Full Name
    N-ethylmaleimide sensitive factor, vesicle fusing ATPaseprovided by HGNC
    Primary source
    HGNC:HGNC:8016
    See related
    Ensembl:ENSG00000073969 MIM:601633; AllianceGenome:HGNC:8016
    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; DEE96; SEC18
    Summary
    Enables PDZ domain binding activity and ionotropic glutamate receptor binding activity. Involved in intracellular protein transport; positive regulation of protein catabolic process; and positive regulation of receptor recycling. Located in Golgi apparatus; cytosol; and plasma membrane. Implicated in developmental and epileptic encephalopathy. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in brain (RPKM 113.7), colon (RPKM 17.6) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NSF in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (46590669..46757464)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (47452259..47618933)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (44668035..44834830)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 37 member A2 Neighboring gene ADP ribosylation factor like GTPase 17A Neighboring gene RDM1 pseudogene 2 Neighboring gene RNA, 7SL, cytoplasmic 199, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:44704776-44705308 Neighboring gene vesicle-associated membrane protein 5-like Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:44809975-44810751 Neighboring gene Sharpr-MPRA regulatory region 12503 Neighboring gene Sharpr-MPRA regulatory region 3126 Neighboring gene ribosomal protein S7 pseudogene 11 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:44849369-44850026 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:44850027-44850682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:44850683-44851340 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:44851341-44851996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:44853512-44854187 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:44859348-44860034 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:44862602-44863519 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:44863520-44864436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:44886481-44887010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:44887011-44887538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:44891812-44892716 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:44897113-44897700 Neighboring gene uncharacterized LOC101929777 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:44909071-44909718 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:44909719-44910366 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:44910367-44911014 Neighboring gene Wnt family member 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Developmental and epileptic encephalopathy 96
    MedGen: C5543446 OMIM: 619340 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.
    EBI GWAS Catalog
    Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population.
    EBI GWAS Catalog
    Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
    EBI GWAS Catalog
    Genome-wide association study reveals genetic risk underlying Parkinson's disease.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify N-ethylmaleimide-sensitive factor (NSF), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Envelope surface glycoprotein gp160, precursor env NSF-DN disrupts HIV-1 Env glycoprotein processing and virion infectivity PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify N-ethylmaleimide-sensitive factor (NSF), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify N-ethylmaleimide-sensitive factor (NSF), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify N-ethylmaleimide-sensitive factor (NSF), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    gag NSF mutant E329Q (NSF-DN), defective in ATP hydrolysis, inhibits virus particle production by disrupting Gag-membrane localization PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ATP hydrolysis activity TAS
    Traceable Author Statement
    more info
     
    enables ATP-dependent protein disaggregase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables PDZ domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables SNARE binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ionotropic glutamate receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein-containing complex binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables syntaxin-1 binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in Golgi to plasma membrane protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in SNARE complex disassembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in exocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in intra-Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in plasma membrane fusion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of receptor recycling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in potassium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of exocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in vesicle-mediated transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    is_active_in Golgi stack IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Golgi stack ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in dendritic shaft ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in lysosomal membrane HDA PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in postsynaptic density ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_006178.4NP_006169.2  vesicle-fusing ATPase

      See identical proteins and their annotated locations for NP_006169.2

      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
      A8K2D9, B4DFA2, P46459, Q8N6D7, Q9UKZ2
      UniProtKB/TrEMBL
      A0A384MTI6, A0A994J5X9
      Related
      ENSP00000381293.4, ENST00000398238.8
      Conserved Domains (4) summary
      smart01072
      Location:111183
      CDC48_2; Cell division protein 48 (CDC48) domain 2
      smart01073
      Location:683
      CDC48_N; Cell division protein 48 (CDC48) N-terminal domain
      TIGR01243
      Location:159606
      CDC48; AAA family ATPase, CDC48 subfamily
      cd19504
      Location:219395
      RecA-like_NSF-SEC18_r1-like; first of two ATPase domains of NSF and SEC18, and similar ATPase domains

    RNA

    1. NR_040116.2 RNA Sequence

      Status: VALIDATED

      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
      Related
      ENST00000571864.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      46590669..46757464
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167251.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1576739..1743341
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187663.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      1110346..1276876
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      47452259..47618933
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)