Gene
napbb
- ID
- ZDB-GENE-070112-2132
- Name
- N-ethylmaleimide-sensitive factor attachment protein, beta b
- Symbol
- napbb Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to enable soluble NSF attachment protein activity and syntaxin binding activity. Acts upstream of or within photoreceptor cell maintenance. Predicted to be located in membrane. Predicted to be part of synaptobrevin 2-SNAP-25-syntaxin-1a complex. Is expressed in head; tail bud; telencephalon; visual system; and yolk syncytial layer. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy. Orthologous to human NAPB (NSF attachment protein beta).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 107 | Alliance | Developmental and epileptic encephalopathy 107 | 620033 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | NSF attachment protein | Tetratricopeptide-like helical domain superfamily |
|---|---|---|---|
|
UniProtKB:A0A8M9P2Q3
|
182 | ||
|
UniProtKB:A1L245
|
295 | ||
|
UniProtKB:F1Q9P4
|
295 |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance