STXBP5L Gene
Syntaxin Binding Protein 5 Like
Gene Information Card
| Symbol | STXBP5L |
|---|---|
| Full Name | Syntaxin Binding Protein 5 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 3q13.33 |
| NCBI Gene ID | 9515 ncbi.nlm.nih.gov/gene/9515 |
| Ensembl ID | ENSG00000163631 |
| UniProt ID | Q9HCH0 |
| OMIM ID | 618506 |
| HGNC ID | 30757 |
| Aliases | STXBP5L, bA364G4.1, KIAA1980 |
Description
STXBP5L (Syntaxin Binding Protein 5 Like) is a protein-coding gene that encodes a member of the SEC1 family of proteins involved in vesicle trafficking and SNARE complex regulation. The protein interacts with syntaxins to modulate exocytosis and neurotransmitter release. It is expressed in multiple tissues, with notable levels in the brain and endocrine tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder | Impaired vesicle trafficking due to loss-of-function variants | ClinVar (2024) |
| Autism spectrum disorder | Disruption of synaptic vesicle fusion | OMIM (2023) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Pancreas | 6.1 | Low |
| Adrenal gland | 5.4 | Low |
| Lung | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.0 | Neuronal cell line |
| HEK293 | 4.5 | Embryonic kidney |
| HeLa | 2.1 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function |
| c.890A>G (p.Tyr297Cys) | Missense | 0.02% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense variants leading to premature stop codons and truncated protein.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Not established.
View complete mutation data：
Gene Ontology (GO)
| • SNAP receptor activity (GO:0005484) | • syntaxin binding (GO:0019905) |
| • exocytosis (GO:0006887) | • synaptic vesicle exocytosis (GO:0016079) |
| • synapse (GO:0045202) |
Pathways
• SNARE interactions in vesicular transport (Reactome: R-HSA-421837)
• Neurotransmitter release cycle (Reactome: R-HSA-112310)
Protein Summary
STXBP5L encodes a 1,098-amino acid protein (UniProt Q9HCH0) belonging to the SEC1 family. It binds syntaxins and regulates SNARE complex assembly, critical for vesicle fusion and neurotransmitter release. The protein is predominantly expressed in the brain and is implicated in neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STXBP5L Knockout HEK293 Cell Line | EDJ-KQ6619 | Human | 9515 | Details Get a Quote |
| STXBP5L Knockout HeLa Cell Line | EDJ-KQ29514 | Human | 9515 | Details Get a Quote |
| STXBP5L Knockout A-549 Cell Line | EDJ-KQ63666 | Human | 9515 | Details Get a Quote |
| STXBP5L Knockout HCT 116 Cell Line | EDJ-KQ72129 | Human | 9515 | Details Get a Quote |
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