STXBP1

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].

Loading, please wait...
Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
Namesyntaxin binding protein 1
OMIM IDMIM:602926
Ensembl IDEnsembl:ENSG00000136854
HGNC IDHGNC:HGNC:11444
PHARMGKB IDPA36241
Map Location9q34.11

GO terms in STXBP1


Loading, please wait...
Term Type
Evidence Type
GO Term ID
GO Des.
CC IDA GO:0005654 nucleoplasm
CC ISS GO:0005737 cytoplasm
CC ISS GO:0005739 mitochondrion
CC IDA GO:0005829 cytosol
CC TAS GO:0005829 cytosol
CC IEA GO:0005856 cytoskeleton
Showing 1 to 6 of 53 rows rows per page

Gene expression in normal tissue: STXBP1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in STXBP1


Loading, please wait...
Database
Pathway ID
Pathway Des.
reactome R-HSA-112310 Neurotransmitter release cycle
reactome R-HSA-112315 Transmission across Chemical Synapses
reactome R-HSA-112316 Neuronal System
reactome R-HSA-112316 Neuronal System
reactome R-HSA-1430728 Metabolism
reactome R-HSA-163685 Integration of energy metabolism
Showing 1 to 6 of 20 rows rows per page

Gene-Drug: Aster Plot


Loading, please wait...
Drug ID
Drug Name
Model Num.
iGMDRD409 Saracatinib 1
Showing 1 to 1 of 1 rows

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in STXBP1

Loading, please wait...
Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

​​​​

SITE
DATATYPES
CLASSFICATION
Map

Copyright © 2018 Modellab | All Rights Reserved

Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.