Gene
bcap31
- ID
- ZDB-GENE-030616-63
- Name
- B cell receptor associated protein 31
- Symbol
- bcap31 Nomenclature History
- Previous Names
-
- si:bz30i22.4
- si:rp71-30i22.4
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport and protein localization to endoplasmic reticulum exit site. Predicted to act upstream of or within protein transport and vesicle-mediated transport. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in deafness, dystonia, and cerebral hypomyelination and sensorineural hearing loss. Orthologous to human BCAP31 (B cell receptor associated protein 31).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:56389 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| deafness, dystonia, and cerebral hypomyelination | Alliance | Deafness, dystonia, and cerebral hypomyelination | 300475 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | BAP29/BAP31, transmembrane domain | Bap31/Bap29 cytoplasmic coiled-coil domain | B-cell receptor-associated protein 29/31 |
|---|---|---|---|---|
|
UniProtKB:Q7ZUJ4
|
247 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
bcap31-201
(1)
|
Ensembl | 1,113 nt | ||
| ncRNA |
bcap31-002
(1)
|
Ensembl | 716 nt |
Interactions and Pathways
No data available
Plasmids
No data available