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

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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

De novo NSF mutations cause early infantile epileptic encephalopathy.
Title: De novo NSF mutations cause early infantile epileptic encephalopathy.
A large copy number variant (CNV) that encompasses part of the NSF gene contributes to cocaine dependence.
Title: A Highly Polymorphic Copy Number Variant in the NSF Gene is Associated with Cocaine Dependence.
NSF deficiency in HeLa cells barely affected cell viability, anterograde trafficking of vesicular stomatitis virus glycoprotein G and transferrin endocytosis.
Title: Differential requirement for N-ethylmaleimide-sensitive factor in endosomal trafficking of transferrin receptor from anterograde trafficking of vesicular stomatitis virus glycoprotein G.
a processive helicase-like mechanism for NSF in which approximately 1 residue is unwound for every hydrolyzed ATP molecule.
Title: Processive ATP-driven substrate disassembly by the N-ethylmaleimide-sensitive factor (NSF) molecular machine.
Single and multiple-marker analyses revealed a strong association between cocaine dependence and the NSF gene.
Title: Candidate pathway association study in cocaine dependence: the control of neurotransmitter release.
Knockdown of TRX1 increases the level of S-nitrosylated NSF, prolongs the inhibition of exocytosis, and suppresses leukocyte
Title: Thioredoxin increases exocytosis by denitrosylating N-ethylmaleimide-sensitive factor.
NSF independent fusion of Salmonella-containing late phagosomes with early endosomes.
Title: NSF independent fusion of Salmonella-containing late phagosomes with early endosomes.
analysis of human NSF possible binding mode to GABARAP and GATE-16
Title: Comparative modeling of human NSF reveals a possible binding mode of GABARAP and GATE-16.
Data show that phosphorylation of N-ethylmaleimide-sensitive factor on tyrosine residues prevents its SNARE complex dissociation activity and establish a role for PTP1B in the modulation of the membrane fusion machinery.
Title: PTP1B dephosphorylates N-ethylmaleimide-sensitive factor and elicits SNARE complex disassembly during human sperm exocytosis.
Data show that NSF is an inclusion body component in neuronal intranuclear inclusion disease identified by anti-SUMO-1-immunocapture.
Title: NSF, Unc-18-1, dynamin-1 and HSP90 are inclusion body components in neuronal intranuclear inclusion disease identified by anti-SUMO-1-immunocapture.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study reveals genetic risk underlying Parkinson's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S1703 (e-PCR)
- UniSTS:153862

RH118793 (e-PCR)
- UniSTS:138775

D17S920 (e-PCR), detects polymorphism
- UniSTS:40221

SHGC-31272 (e-PCR)
- UniSTS:49188

NSF-1 (e-PCR)
- UniSTS:512128

SHGC-144487 (e-PCR)
- UniSTS:172267

D17S1931 (e-PCR)
- UniSTS:76285

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 more info	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

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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

EC 3.6.4.6

NCBI Reference Sequences (RefSeq)

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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)

NM_006178.4 → NP_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:111 → 183

CDC48_2; Cell division protein 48 (CDC48) domain 2

smart01073
Location:6 → 83

CDC48_N; Cell division protein 48 (CDC48) N-terminal domain

TIGR01243
Location:159 → 606

CDC48; AAA family ATPase, CDC48 subfamily

cd19504
Location:219 → 395

RecA-like_NSF-SEC18_r1-like; first of two ATPase domains of NSF and SEC18, and similar ATPase domains

RNA

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