STXBP1
Sign in to saveAlso known as MUNC18-1, NSEC1, P67, RBSEC1, UNC18, syntaxin binding protein 1
Syntaxin-binding protein 1 (also known as Munc18-1) is a protein that in humans is encoded by the STXBP1 gene. 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 neurological disorders including epilepsy, intellectual disability, and movement disorders.
Gene data
STXBP1- Name
- syntaxin binding protein 1
- Type
- protein-coding
- Position
- 127,579,370–127,696,027 (+)
- Aliases
- DEE4, MUNC18-1, N-Sec1, NSEC1, P67, RBSEC1, UNC18, unc-18A, unc18-1
- Ensembl
- ENSG00000136854
- RefSeq RNA
- NM_001032221.6, NM_001374306.2, NM_001374307.2, NM_001374308.2, NM_001374309.2
- RefSeq protein
- NP_001027392.1, NP_001361235.1, NP_001361236.1, NP_001361237.1, NP_001361238.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
syntaxin binding protein 1
- Symbol
- STXBP1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 9:127,579,370-127,696,027
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~3 min read
Encyclopedic overview
10 sectionsContents
- Structure
- Function
- Clinical significance
- Epilepsy
- Intellectual disability and movement disorders
- Expression
- Interactions
- References
- External links
- Further reading
Syntaxin-binding protein 1 (also known as Munc18-1) is a protein that in humans is encoded by the STXBP1 gene. 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 neurological disorders including epilepsy, intellectual disability, and movement disorders.
== Structure == The STXBP1 gene is located on the q arm of chromosome 9 in position 34.11 and has 20 exons spanning 80,510 base pairs. The encoded protein is a peripheral membrane protein located in the cytosol. In the retina and cerebellum, an alternatively spliced transcript variant is expressed, containing an additional exon and totaling 603 amino acids. Alternative splicing can produce an isoform with exon 19 and an isoform without.
Excerpted from Wikipedia’s “STXBP1” article, available under the CC BY-SA 4.0 licence.