Human Gene NSF (ENST00000398238.8_8) from GENCODE V47lift37
  Description: N-ethylmaleimide sensitive factor, vesicle fusing ATPase, transcript variant 1 (from RefSeq NM_006178.4)
Gencode Transcript: ENST00000398238.8_8
Gencode Gene: ENSG00000073969.19_17
Transcript (Including UTRs)
   Position: hg19 chr17:44,668,035-44,834,830 Size: 166,796 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg19 chr17:44,668,142-44,833,189 Size: 165,048 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:44,668,035-44,834,830)mRNA (may differ from genome)Protein (744 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NSF_HUMAN
DESCRIPTION: RecName: Full=Vesicle-fusing ATPase; EC=3.6.4.6; AltName: Full=N-ethylmaleimide-sensitive fusion protein; Short=NEM-sensitive fusion protein; AltName: Full=Vesicular-fusion protein NSF;
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. Seem 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.
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).
SUBCELLULAR LOCATION: Cytoplasm.
PTM: Phosphorylation at Ser-569 interferes with homohexamerization (By similarity).
SIMILARITY: Belongs to the AAA ATPase family.
SEQUENCE CAUTION: Sequence=AAA17411.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NSF
Diseases sorted by gene-association score: tetanus (5), neuronal intranuclear inclusion disease (2), n syndrome (1), infant botulism (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 89.02 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 904.51 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -63.70107-0.595 Picture PostScript Text
3' UTR -429.801641-0.262 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003593 - AAA+_ATPase
IPR009010 - Asp_de-COase-like_fold
IPR003959 - ATPase_AAA_core
IPR003960 - ATPase_AAA_CS
IPR004201 - Cdc48_dom2
IPR003338 - CDC4_N-term_subdom

Pfam Domains:
PF00004 - ATPase family associated with various cellular activities (AAA)
PF02359 - Cell division protein 48 (CDC48), N-terminal domain
PF02933 - Cell division protein 48 (CDC48), domain 2
PF07724 - AAA domain (Cdc48 subfamily)
PF17862 - AAA+ lid domain

SCOP Domains:
50692 - ADC-like
51182 - RmlC-like cupins
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like
54585 - Cdc48 domain 2-like

ModBase Predicted Comparative 3D Structure on P46459
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000149 SNARE binding
GO:0000166 nucleotide binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016787 hydrolase activity
GO:0016887 ATPase activity
GO:0017075 syntaxin-1 binding
GO:0017137 Rab GTPase binding
GO:0019901 protein kinase binding
GO:0019905 syntaxin binding
GO:0030165 PDZ domain binding
GO:0035255 ionotropic glutamate receptor binding
GO:0042623 ATPase activity, coupled
GO:0044877 macromolecular complex binding
GO:0046872 metal ion binding

Biological Process:
GO:0001921 positive regulation of receptor recycling
GO:0006813 potassium ion transport
GO:0006886 intracellular protein transport
GO:0006887 exocytosis
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0017157 regulation of exocytosis
GO:0035494 SNARE complex disassembly
GO:0045026 plasma membrane fusion
GO:0045732 positive regulation of protein catabolic process
GO:0048208 COPII vesicle coating

Cellular Component:
GO:0000139 Golgi membrane
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005795 Golgi stack
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0014069 postsynaptic density
GO:0043198 dendritic shaft
GO:0043209 myelin sheath


-  Descriptions from all associated GenBank mRNAs
  AF135168 - Homo sapiens N-ethylmaleimide-sensitive factor (NSF) mRNA, complete cds.
LP895342 - Sequence 206 from Patent EP3253886.
AK294727 - Homo sapiens cDNA FLJ54349 complete cds, highly similar to Vesicle-fusing ATPase (EC 3.6.4.6).
AK294886 - Homo sapiens cDNA FLJ54615 complete cds, highly similar to Vesicle-fusing ATPase (EC 3.6.4.6).
AK299786 - Homo sapiens cDNA FLJ54381 complete cds, highly similar to Vesicle-fusing ATPase (EC 3.6.4.6).
AK294001 - Homo sapiens cDNA FLJ59316 complete cds, highly similar to Vesicle-fusing ATPase (EC 3.6.4.6).
AF102846 - Homo sapiens N-ethylmaleimide-sensitive factor (NSF) mRNA, complete cds.
BC030613 - Homo sapiens N-ethylmaleimide-sensitive factor, mRNA (cDNA clone MGC:32977 IMAGE:4812117), complete cds.
AK226078 - Homo sapiens mRNA for N-ethylmaleimide-sensitive factor variant, clone: hm00155.
AK290204 - Homo sapiens cDNA FLJ75618 complete cds, highly similar to Homo sapiens N-ethylmaleimide-sensitive factor (NSF), mRNA.
U03985 - Human N-ethylmaleimide-sensitive factor mRNA, partial cds.
AK316057 - Homo sapiens cDNA, FLJ78956 complete cds, highly similar to Vesicle-fusing ATPase (EC 3.6.4.6).
AK299031 - Homo sapiens cDNA FLJ58682 complete cds, highly similar to Vesicle-fusing ATPase (EC 3.6.4.6).
AB384997 - Synthetic construct DNA, clone: pF1KB4902, Homo sapiens NSF gene for vesicle-fusing ATPase, complete cds, without stop codon, in Flexi system.
GQ891288 - Homo sapiens clone HEL-S-11a epididymis secretory sperm binding protein mRNA, complete cds.
BC013314 - Homo sapiens N-ethylmaleimide-sensitive factor, mRNA (cDNA clone IMAGE:3939600), partial cds.
U80997 - Homo sapiens N-ethylmaleimide-sensitive factor-like protein mRNA, partial cds.
JD419276 - Sequence 400300 from Patent EP1572962.
JD394070 - Sequence 375094 from Patent EP1572962.
JD240235 - Sequence 221259 from Patent EP1572962.
JD502891 - Sequence 483915 from Patent EP1572962.
JD420002 - Sequence 401026 from Patent EP1572962.
JD524375 - Sequence 505399 from Patent EP1572962.
JD233877 - Sequence 214901 from Patent EP1572962.
JD202508 - Sequence 183532 from Patent EP1572962.
JD303461 - Sequence 284485 from Patent EP1572962.
JD224071 - Sequence 205095 from Patent EP1572962.
JD250713 - Sequence 231737 from Patent EP1572962.
JD055480 - Sequence 36504 from Patent EP1572962.
JD251210 - Sequence 232234 from Patent EP1572962.
JD126267 - Sequence 107291 from Patent EP1572962.
JD295011 - Sequence 276035 from Patent EP1572962.
JD282175 - Sequence 263199 from Patent EP1572962.
JD062439 - Sequence 43463 from Patent EP1572962.
JD122700 - Sequence 103724 from Patent EP1572962.
AL049276 - Homo sapiens mRNA; cDNA DKFZp564H073 (from clone DKFZp564H073).
JD448861 - Sequence 429885 from Patent EP1572962.
JD114024 - Sequence 95048 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_gabaPathway - Gamma-aminobutyric Acid Receptor Life Cycle

Reactome (by CSHL, EBI, and GO)

Protein P46459 (Reactome details) participates in the following event(s):

R-HSA-5694423 NSF and SNAPs bind cis-SNARE complex
R-HSA-6809014 cis-Golgi cis-SNARE binds NSF and SNAPs
R-HSA-6811425 NSF and SNAPs bind cis-SNARE at the ER membrane
R-HSA-6814676 SNAPs and NSF hexamer bind cis-SNARE at the TGN
R-HSA-6814684 cis-SNARE binds SNAPs and NSF hexamer at the TGN
R-HSA-8847637 NSF and SNAPs bind the cis-SNARE at the Golgi
R-HSA-5694425 NSF ATPase activity dissociates cis-SNARE
R-HSA-6811422 NSF ATPase activity dissociates cis-SNARE at the ER
R-HSA-6814678 ATP hydrolysis by NSF disassembles the cis-SNARE at the TGN
R-HSA-6814683 NSF-dependent ATP hydrolysis disassembles the cis-SNARE at the TGN
R-HSA-8847638 ATP hydrolysis by NSF disassembles the cis-SNARE at the Golgi membrane
R-HSA-416985 Trafficking of GluR2-containing AMPA receptors to synapse
R-HSA-204005 COPII-mediated vesicle transport
R-HSA-6807878 COPI-mediated anterograde transport
R-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-6811440 Retrograde transport at the Trans-Golgi-Network
R-HSA-6811438 Intra-Golgi traffic
R-HSA-416993 Trafficking of GluR2-containing AMPA receptors
R-HSA-199977 ER to Golgi Anterograde Transport
R-HSA-8856688 Golgi-to-ER retrograde transport
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-399719 Trafficking of AMPA receptors
R-HSA-199991 Membrane Trafficking
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-399721 Glutamate binding, activation of AMPA receptors and synaptic plasticity
R-HSA-5653656 Vesicle-mediated transport
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-597592 Post-translational protein modification
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-392499 Metabolism of proteins
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: A8K2D9, B4DFA2, ENST00000398238.1, ENST00000398238.2, ENST00000398238.3, ENST00000398238.4, ENST00000398238.5, ENST00000398238.6, ENST00000398238.7, NM_006178, NSF_HUMAN, P46459, Q8N6D7, Q9UKZ2, uc318zpn.1, uc318zpn.2
UCSC ID: ENST00000398238.8_8
RefSeq Accession: NM_006178.4
Protein: P46459 (aka NSF_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.