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NSF (N-ethylmaleimide sensitive factor, vesicle fusing ATPase)

Identity

Alias_namesN-ethylmaleimide-sensitive factor
N-ethylmaleimide sensitive factor
Alias_symbol (synonym)SKD2
Other aliasSEC18
HGNC (Hugo) NSF
LocusID (NCBI) 4905
Atlas_Id 56222
Location 17q21.31  [Link to chromosome band 17q21]
Location_base_pair Starts at 46590669 and ends at 46757462 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
NSF (17q21.31) / EED (11q14.2)NSF (17q21.31) / EFCAB13 (17q21.32)NSF (17q21.31) / PIP5K1A (1q21.3)
NSF (17q21.31) / SAMD12 (8q24.12)NSF (17q21.31) / VAT1L (16q23.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(1;17)(p36;q21) WNT3 or NSF/PRDM16


External links

Nomenclature
HGNC (Hugo)NSF   8016
Cards
Entrez_Gene (NCBI)NSF  4905  N-ethylmaleimide sensitive factor, vesicle fusing ATPase
AliasesSEC18; SKD2
GeneCards (Weizmann)NSF
Ensembl hg19 (Hinxton)ENSG00000073969 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000073969 [Gene_View]  chr17:46590669-46757462 [Contig_View]  NSF [Vega]
ICGC DataPortalENSG00000073969
TCGA cBioPortalNSF
AceView (NCBI)NSF
Genatlas (Paris)NSF
WikiGenes4905
SOURCE (Princeton)NSF
Genetics Home Reference (NIH)NSF
Genomic and cartography
GoldenPath hg38 (UCSC)NSF  -     chr17:46590669-46757462 +  17q21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NSF  -     17q21.31   [Description]    (hg19-Feb_2009)
EnsemblNSF - 17q21.31 [CytoView hg19]  NSF - 17q21.31 [CytoView hg38]
Mapping of homologs : NCBINSF [Mapview hg19]  NSF [Mapview hg38]
OMIM601633   
Gene and transcription
Genbank (Entrez)AF102846 AF135168 AK226078 AK290204 AK294001
RefSeq transcript (Entrez)NM_006178
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_167251 NT_187663
Consensus coding sequences : CCDS (NCBI)NSF
Cluster EST : UnigeneHs.431279 [ NCBI ]
CGAP (NCI)Hs.431279
Alternative Splicing GalleryENSG00000073969
Gene ExpressionNSF [ NCBI-GEO ]   NSF [ EBI - ARRAY_EXPRESS ]   NSF [ SEEK ]   NSF [ MEM ]
Gene Expression Viewer (FireBrowse)NSF [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4905
GTEX Portal (Tissue expression)NSF
Human Protein AtlasENSG00000073969-NSF [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP46459   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP46459  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP46459
Splice isoforms : SwissVarP46459
Catalytic activity : Enzyme3.6.4.6 [ Enzyme-Expasy ]   3.6.4.63.6.4.6 [ IntEnz-EBI ]   3.6.4.6 [ BRENDA ]   3.6.4.6 [ KEGG ]   
PhosPhoSitePlusP46459
Domaine pattern : Prosite (Expaxy)AAA (PS00674)   
Domains : Interpro (EBI)AAA+_ATPase    Asp_de-COase-like_dom    ATPase_AAA_core    ATPase_AAA_CS    Cdc48_dom2    CDC48_domain_2-like    CDC4_N-term_subdom    P-loop_NTPase   
Domain families : Pfam (Sanger)AAA (PF00004)    CDC48_2 (PF02933)    CDC48_N (PF02359)   
Domain families : Pfam (NCBI)pfam00004    pfam02933    pfam02359   
Domain families : Smart (EMBL)AAA (SM00382)  CDC48_2 (SM01072)  CDC48_N (SM01073)  
Conserved Domain (NCBI)NSF
DMDM Disease mutations4905
Blocks (Seattle)NSF
SuperfamilyP46459
Human Protein Atlas [tissue]ENSG00000073969-NSF [tissue]
Peptide AtlasP46459
HPRD03380
IPIIPI00006451   IPI00985110   
Protein Interaction databases
DIP (DOE-UCLA)P46459
IntAct (EBI)P46459
FunCoupENSG00000073969
BioGRIDNSF
STRING (EMBL)NSF
ZODIACNSF
Ontologies - Pathways
QuickGOP46459
Ontology : AmiGOGolgi membrane  SNARE binding  positive regulation of receptor recycling  protein binding  ATP binding  lysosomal membrane  Golgi stack  cytosol  cytosol  plasma membrane  potassium ion transport  intracellular protein transport  exocytosis  ER to Golgi vesicle-mediated transport  retrograde vesicle-mediated transport, Golgi to ER  postsynaptic density  vesicle-mediated transport  ATPase activity  ATPase activity  syntaxin-1 binding  Rab GTPase binding  regulation of exocytosis  protein kinase binding  PDZ domain binding  protein complex binding  protein complex binding  ionotropic glutamate receptor binding  SNARE complex disassembly  ATPase activity, coupled  dendritic shaft  myelin sheath  plasma membrane fusion  positive regulation of protein catabolic process  metal ion binding  COPII vesicle coating  extracellular exosome  
Ontology : EGO-EBIGolgi membrane  SNARE binding  positive regulation of receptor recycling  protein binding  ATP binding  lysosomal membrane  Golgi stack  cytosol  cytosol  plasma membrane  potassium ion transport  intracellular protein transport  exocytosis  ER to Golgi vesicle-mediated transport  retrograde vesicle-mediated transport, Golgi to ER  postsynaptic density  vesicle-mediated transport  ATPase activity  ATPase activity  syntaxin-1 binding  Rab GTPase binding  regulation of exocytosis  protein kinase binding  PDZ domain binding  protein complex binding  protein complex binding  ionotropic glutamate receptor binding  SNARE complex disassembly  ATPase activity, coupled  dendritic shaft  myelin sheath  plasma membrane fusion  positive regulation of protein catabolic process  metal ion binding  COPII vesicle coating  extracellular exosome  
Pathways : BIOCARTAGamma-aminobutyric Acid Receptor Life Cycle [Genes]   
Pathways : KEGGSynaptic vesicle cycle    GABAergic synapse    Vasopressin-regulated water reabsorption   
NDEx NetworkNSF
Atlas of Cancer Signalling NetworkNSF
Wikipedia pathwaysNSF
Orthology - Evolution
OrthoDB4905
GeneTree (enSembl)ENSG00000073969
Phylogenetic Trees/Animal Genes : TreeFamNSF
HOVERGENP46459
HOGENOMP46459
Homologs : HomoloGeneNSF
Homology/Alignments : Family Browser (UCSC)NSF
Gene fusions - Rearrangements
Tumor Fusion PortalNSF
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNSF [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NSF
dbVarNSF
ClinVarNSF
1000_GenomesNSF 
Exome Variant ServerNSF
ExAC (Exome Aggregation Consortium)ENSG00000073969
GNOMAD BrowserENSG00000073969
Genetic variants : HAPMAP4905
Genomic Variants (DGV)NSF [DGVbeta]
DECIPHERNSF [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNSF 
Mutations
ICGC Data PortalNSF 
TCGA Data PortalNSF 
Broad Tumor PortalNSF
OASIS PortalNSF [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNSF  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNSF
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch NSF
DgiDB (Drug Gene Interaction Database)NSF
DoCM (Curated mutations)NSF (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NSF (select a term)
intoGenNSF
Cancer3DNSF(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601633   
Orphanet
DisGeNETNSF
MedgenNSF
Genetic Testing Registry NSF
NextProtP46459 [Medical]
TSGene4905
GENETestsNSF
Target ValidationNSF
Huge Navigator NSF [HugePedia]
snp3D : Map Gene to Disease4905
BioCentury BCIQNSF
ClinGenNSF
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4905
Chemical/Pharm GKB GenePA31793
Clinical trialNSF
Miscellaneous
canSAR (ICR)NSF (select the gene name)
Probes
Litterature
PubMed86 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNSF
EVEXNSF
GoPubMedNSF
iHOPNSF
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:26:50 CET 2017

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