Atlas of Genetics and Cytogenetics in Oncology and Haematology


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STXBP1 (syntaxin binding protein 1)

Identity

Alias_symbol (synonym)hUNC18
MUNC18-1
UNC18
rbSec1
Other aliasNSEC1
P67
RBSEC1
HGNC (Hugo) STXBP1
LocusID (NCBI) 6812
Atlas_Id 56155
Location 9q34.11  [Link to chromosome band 9q34]
Location_base_pair Starts at 127612207 and ends at 127692716 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HSPB1 (7q11.23) / STXBP1 (9q34.11)REEP1 (2p11.2) / STXBP1 (9q34.11)SLC27A4 (9q34.11) / STXBP1 (9q34.11)
SMAP2 (1p34.2) / STXBP1 (9q34.11)STXBP1 (9q34.11) / STXBP1 (9q34.11)

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

 


External links

Nomenclature
HGNC (Hugo)STXBP1   11444
Cards
Entrez_Gene (NCBI)STXBP1  6812  syntaxin binding protein 1
AliasesMUNC18-1; NSEC1; P67; RBSEC1; 
UNC18
GeneCards (Weizmann)STXBP1
Ensembl hg19 (Hinxton)ENSG00000136854 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136854 [Gene_View]  chr9:127612207-127692716 [Contig_View]  STXBP1 [Vega]
ICGC DataPortalENSG00000136854
TCGA cBioPortalSTXBP1
AceView (NCBI)STXBP1
Genatlas (Paris)STXBP1
WikiGenes6812
SOURCE (Princeton)STXBP1
Genetics Home Reference (NIH)STXBP1
Genomic and cartography
GoldenPath hg38 (UCSC)STXBP1  -     chr9:127612207-127692716 +  9q34.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)STXBP1  -     9q34.11   [Description]    (hg19-Feb_2009)
EnsemblSTXBP1 - 9q34.11 [CytoView hg19]  STXBP1 - 9q34.11 [CytoView hg38]
Mapping of homologs : NCBISTXBP1 [Mapview hg19]  STXBP1 [Mapview hg38]
OMIM602926   612164   
Gene and transcription
Genbank (Entrez)AB209180 AF004562 AF004563 AK094794 AK293984
RefSeq transcript (Entrez)NM_001032221 NM_003165
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)STXBP1
Cluster EST : UnigeneHs.288229 [ NCBI ]
CGAP (NCI)Hs.288229
Alternative Splicing GalleryENSG00000136854
Gene ExpressionSTXBP1 [ NCBI-GEO ]   STXBP1 [ EBI - ARRAY_EXPRESS ]   STXBP1 [ SEEK ]   STXBP1 [ MEM ]
Gene Expression Viewer (FireBrowse)STXBP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6812
GTEX Portal (Tissue expression)STXBP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP61764   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP61764  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP61764
Splice isoforms : SwissVarP61764
PhosPhoSitePlusP61764
Domains : Interpro (EBI)Sec-1-like_dom2    Sec1-like   
Domain families : Pfam (Sanger)Sec1 (PF00995)   
Domain families : Pfam (NCBI)pfam00995   
Conserved Domain (NCBI)STXBP1
DMDM Disease mutations6812
Blocks (Seattle)STXBP1
SuperfamilyP61764
Human Protein AtlasENSG00000136854
Peptide AtlasP61764
HPRD04235
IPIIPI00084828   IPI00046057   IPI00922881   IPI01013567   
Protein Interaction databases
DIP (DOE-UCLA)P61764
IntAct (EBI)P61764
FunCoupENSG00000136854
BioGRIDSTXBP1
STRING (EMBL)STXBP1
ZODIACSTXBP1
Ontologies - Pathways
QuickGOP61764
Ontology : AmiGOSNARE binding  platelet degranulation  RNA binding  protein binding  nucleoplasm  cytoplasm  mitochondrion  cytosol  cytosol  plasma membrane  plasma membrane  vesicle docking involved in exocytosis  neurotransmitter secretion  neuromuscular synaptic transmission  axon target recognition  regulation of synaptic vesicle priming  glutamate secretion  protein transport  synaptic vesicle maturation  syntaxin-1 binding  syntaxin-1 binding  protein kinase binding  protein domain specific binding  syntaxin binding  platelet alpha granule  negative regulation of protein complex assembly  regulation of synaptic vesicle fusion to presynaptic active zone membrane  negative regulation of synaptic transmission, GABAergic  regulation of SNARE complex assembly  identical protein binding  terminal bouton  myelin sheath  protein complex  negative regulation of neuron apoptotic process  positive regulation of calcium ion-dependent exocytosis  protein N-terminus binding  presynaptic active zone membrane  protein stabilization  long term synaptic depression  extracellular exosome  platelet aggregation  protein localization to plasma membrane  presynaptic dense core vesicle exocytosis  
Ontology : EGO-EBISNARE binding  platelet degranulation  RNA binding  protein binding  nucleoplasm  cytoplasm  mitochondrion  cytosol  cytosol  plasma membrane  plasma membrane  vesicle docking involved in exocytosis  neurotransmitter secretion  neuromuscular synaptic transmission  axon target recognition  regulation of synaptic vesicle priming  glutamate secretion  protein transport  synaptic vesicle maturation  syntaxin-1 binding  syntaxin-1 binding  protein kinase binding  protein domain specific binding  syntaxin binding  platelet alpha granule  negative regulation of protein complex assembly  regulation of synaptic vesicle fusion to presynaptic active zone membrane  negative regulation of synaptic transmission, GABAergic  regulation of SNARE complex assembly  identical protein binding  terminal bouton  myelin sheath  protein complex  negative regulation of neuron apoptotic process  positive regulation of calcium ion-dependent exocytosis  protein N-terminus binding  presynaptic active zone membrane  protein stabilization  long term synaptic depression  extracellular exosome  platelet aggregation  protein localization to plasma membrane  presynaptic dense core vesicle exocytosis  
Pathways : KEGGSynaptic vesicle cycle   
NDEx NetworkSTXBP1
Atlas of Cancer Signalling NetworkSTXBP1
Wikipedia pathwaysSTXBP1
Orthology - Evolution
OrthoDB6812
GeneTree (enSembl)ENSG00000136854
Phylogenetic Trees/Animal Genes : TreeFamSTXBP1
HOVERGENP61764
HOGENOMP61764
Homologs : HomoloGeneSTXBP1
Homology/Alignments : Family Browser (UCSC)STXBP1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSTXBP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)STXBP1
dbVarSTXBP1
ClinVarSTXBP1
1000_GenomesSTXBP1 
Exome Variant ServerSTXBP1
ExAC (Exome Aggregation Consortium)STXBP1 (select the gene name)
Genetic variants : HAPMAP6812
Genomic Variants (DGV)STXBP1 [DGVbeta]
DECIPHERSTXBP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSTXBP1 
Mutations
ICGC Data PortalSTXBP1 
TCGA Data PortalSTXBP1 
Broad Tumor PortalSTXBP1
OASIS PortalSTXBP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSTXBP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSTXBP1
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch STXBP1
DgiDB (Drug Gene Interaction Database)STXBP1
DoCM (Curated mutations)STXBP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)STXBP1 (select a term)
intoGenSTXBP1
Cancer3DSTXBP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602926    612164   
Orphanet889    10307   
MedgenSTXBP1
Genetic Testing Registry STXBP1
NextProtP61764 [Medical]
TSGene6812
GENETestsSTXBP1
Target ValidationSTXBP1
Huge Navigator STXBP1 [HugePedia]
snp3D : Map Gene to Disease6812
BioCentury BCIQSTXBP1
ClinGenSTXBP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6812
Chemical/Pharm GKB GenePA36241
Clinical trialSTXBP1
Miscellaneous
canSAR (ICR)STXBP1 (select the gene name)
Probes
Litterature
PubMed94 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSTXBP1
EVEXSTXBP1
GoPubMedSTXBP1
iHOPSTXBP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:58:05 CEST 2017

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