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

Gene ID: 4905, updated on 5-May-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
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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)