Functions and Diseases

RBP Type Non-canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions Metabolic enzyme
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000136854 Gene ID 6812 Accession 11444
Symbol STXBP1 Alias P67;DEE4;NSEC1;UNC18;N-Sec1;RBSEC1;unc-18A;unc18-1;MUNC18-1 Full Name syntaxin binding protein 1
Status Confidence Length 116658 bases Strand Plus strand
Position 9 : 127579370 - 127696027 RNA binding domain N.A.
Summary This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal

Transcripts

Name Transcript ID bp Protein Translation ID
STXBP1-220 ENST00000637521 2068 589aa ENSP00000489791
STXBP1-206 ENST00000625363 550 149aa ENSP00000486944
STXBP1-215 ENST00000636509 3894 360aa ENSP00000490810
STXBP1-209 ENST00000626539 3840 580aa ENSP00000487211
STXBP1-221 ENST00000637953 3925 577aa ENSP00000490613
STXBP1-214 ENST00000635950 2771 574aa ENSP00000490903
STXBP1-216 ENST00000636962 2918 574aa ENSP00000489762
STXBP1-219 ENST00000637464 4893 69aa ENSP00000489655
STXBP1-217 ENST00000637060 3825 126aa ENSP00000490674
STXBP1-218 ENST00000637173 4193 580aa ENSP00000490519
STXBP1-213 ENST00000630492 572 102aa ENSP00000485680
STXBP1-210 ENST00000627871 538 100aa ENSP00000485895
STXBP1-201 ENST00000373299 3754 594aa ENSP00000362396
STXBP1-202 ENST00000373302 3880 603aa ENSP00000362399
STXBP1-224 ENST00000704680 3782 580aa ENSP00000515991
STXBP1-223 ENST00000650920 4035 589aa ENSP00000498834
STXBP1-203 ENST00000476182 566 22aa ENSP00000490199
STXBP1-225 ENST00000704681 3381 404aa ENSP00000515992
STXBP1-207 ENST00000626333 667 147aa ENSP00000486814
STXBP1-222 ENST00000647107 1843 580aa ENSP00000494727
STXBP1-205 ENST00000496504 591 75aa ENSP00000485361
STXBP1-208 ENST00000626416 3700 No protein -
STXBP1-204 ENST00000494254 563 119aa ENSP00000485397
STXBP1-211 ENST00000628638 581 No protein -
STXBP1-212 ENST00000628768 2582 No protein -

Gene Model

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0000149enables SNARE binding1ISSHomo_sapiens(9606)Function
GO:0002576involved_in platelet degranulation1IMPHomo_sapiens(9606)Process
GO:0003006involved_in developmental process involved in reproduction1IEAHomo_sapiens(9606)Process
GO:0003723enables RNA binding1HDAHomo_sapiens(9606)Function
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005654located_in nucleoplasm1IDAHomo_sapiens(9606)Component
GO:0005737located_in cytoplasm1ISSHomo_sapiens(9606)Component
GO:0005739located_in mitochondrion1ISSHomo_sapiens(9606)Component
GO:0005829located_in cytosol2IDA,TASHomo_sapiens(9606)Component
GO:0005886is_active_in plasma membrane3IBA,IDA,ISSHomo_sapiens(9606)Component
GO:0006886involved_in intracellular protein transport1IBAHomo_sapiens(9606)Process
GO:0006904involved_in vesicle docking involved in exocytosis2IBA,ISSHomo_sapiens(9606)Process
GO:0007269involved_in neurotransmitter secretion1IBAHomo_sapiens(9606)Process
GO:0007274involved_in neuromuscular synaptic transmission1IEAHomo_sapiens(9606)Process
GO:0007412involved_in axon target recognition1ISSHomo_sapiens(9606)Process
GO:0010807involved_in regulation of synaptic vesicle priming1ISSHomo_sapiens(9606)Process
GO:0016082involved_in synaptic vesicle priming1IEAHomo_sapiens(9606)Process
GO:0016188involved_in synaptic vesicle maturation1ISSHomo_sapiens(9606)Process
GO:0016192involved_in vesicle-mediated transport1IBAHomo_sapiens(9606)Process
GO:0017075enables syntaxin-1 binding3IBA,IPI,ISSHomo_sapiens(9606)Function
GO:0019901enables protein kinase binding1IEAHomo_sapiens(9606)Function
GO:0019904enables protein domain specific binding1IEAHomo_sapiens(9606)Function
GO:0019905enables syntaxin binding1IPIHomo_sapiens(9606)Function
GO:0030141is_active_in secretory granule1IBAHomo_sapiens(9606)Component
GO:0030424located_in axon1IEAHomo_sapiens(9606)Component
GO:0031091located_in platelet alpha granule1IDAHomo_sapiens(9606)Component
GO:0031333involved_in negative regulation of protein-containing complex assembly1IEAHomo_sapiens(9606)Process
GO:0031630involved_in regulation of synaptic vesicle fusion to presynaptic active zone membrane1TASHomo_sapiens(9606)Process
GO:0032229involved_in negative regulation of synaptic transmission, GABAergic1ISSHomo_sapiens(9606)Process
GO:0032355involved_in response to estradiol1IEAHomo_sapiens(9606)Process
GO:0032991part_of protein-containing complex1ISSHomo_sapiens(9606)Component
GO:0035493involved_in SNARE complex assembly1IMPHomo_sapiens(9606)Process
GO:0035542involved_in regulation of SNARE complex assembly1TASHomo_sapiens(9606)Process
GO:0042802enables identical protein binding1ISSHomo_sapiens(9606)Function
GO:0043274enables phospholipase binding1IEAHomo_sapiens(9606)Function
GO:0043306involved_in positive regulation of mast cell degranulation1IEAHomo_sapiens(9606)Process
GO:0043524involved_in negative regulation of neuron apoptotic process1IEAHomo_sapiens(9606)Process
GO:0045335located_in phagocytic vesicle1IEAHomo_sapiens(9606)Component
GO:0045956involved_in positive regulation of calcium ion-dependent exocytosis1IEAHomo_sapiens(9606)Process
GO:0048471located_in perinuclear region of cytoplasm1IEAHomo_sapiens(9606)Component
GO:0048787located_in presynaptic active zone membrane1IEAHomo_sapiens(9606)Component
GO:0050821involved_in protein stabilization1IEAHomo_sapiens(9606)Process
GO:0051402involved_in neuron apoptotic process1IEAHomo_sapiens(9606)Process
GO:0060292involved_in long-term synaptic depression1IEAHomo_sapiens(9606)Process
GO:0070062located_in extracellular exosome1HDAHomo_sapiens(9606)Component
GO:0070527involved_in platelet aggregation1IMPHomo_sapiens(9606)Process
GO:0071346involved_in cellular response to type II interferon1IEAHomo_sapiens(9606)Process
GO:0072659involved_in protein localization to plasma membrane1IDAHomo_sapiens(9606)Process
GO:0098688located_in parallel fiber to Purkinje cell synapse1IEAHomo_sapiens(9606)Component
GO:0098794located_in postsynapse1IEAHomo_sapiens(9606)Component
GO:0098831located_in presynaptic active zone cytoplasmic component1IEAHomo_sapiens(9606)Component
GO:0098888located_in extrinsic component of presynaptic membrane1IEAHomo_sapiens(9606)Component
GO:0098978located_in glutamatergic synapse1IEAHomo_sapiens(9606)Component
GO:0099523located_in presynaptic cytosol1IEAHomo_sapiens(9606)Component
GO:0099525involved_in presynaptic dense core vesicle exocytosis1IEAHomo_sapiens(9606)Process
GO:0106022involved_in positive regulation of vesicle docking1IEAHomo_sapiens(9606)Process
GO:1903296involved_in positive regulation of glutamate secretion, neurotransmission1IEAHomo_sapiens(9606)Process
GO:2000367involved_in regulation of acrosomal vesicle exocytosis1IMPHomo_sapiens(9606)Process

Expression