Gene
stxbp1a
- ID
- ZDB-GENE-050626-106
- Name
- syntaxin binding protein 1a
- Symbol
- stxbp1a Nomenclature History
- Previous Names
-
- stxbp1
- fj43h10
- wu:fj36d12
- wu:fj43h10
- zgc:114171
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to enable syntaxin-1 binding activity. Predicted to be involved in intracellular protein transport; neurotransmitter secretion; and vesicle docking involved in exocytosis. Predicted to act upstream of or within protein transport. Predicted to be active in plasma membrane and secretory granule. Is expressed in nervous system. Human ortholog(s) of this gene implicated in West syndrome and developmental and epileptic encephalopathy 4. Orthologous to human STXBP1 (syntaxin binding protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7147420 (16 images)
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Grone et al., 2016
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 4 | Alliance | Developmental and epileptic encephalopathy 4 | 612164 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Sec1-like, domain 1 | Sec1-like, domain 2 | Sec1-like, domain 3a | Sec1-like protein | Sec1-like superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A0R4IQM9
|
603 | |||||
|
UniProtKB:Q4QRD0
|
591 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
stxbp1a-201
(1)
|
Ensembl | 3,473 nt | ||
| mRNA |
stxbp1a-202
(1)
|
Ensembl | 1,137 nt | ||
| mRNA |
stxbp1a-203
(1)
|
Ensembl | 1,858 nt |
Interactions and Pathways
No data available
Plasmids