Gene
bap1
- ID
- ZDB-GENE-050208-492
- Name
- BRCA1 associated deubiquitinase 1
- Symbol
- bap1 Nomenclature History
- Previous Names
-
- si:dkey-42i9.9
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to have chromatin binding activity and thiol-dependent ubiquitin-specific protease activity. Involved in Notch signaling pathway and cranial skeletal system development. Predicted to localize to PR-DUB complex and cytoplasm. Human ortholog(s) of this gene implicated in basal cell carcinoma. Orthologous to human BAP1 (BRCA1 associated protein 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu310 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
uveal melanoma | Alliance | {Uveal melanoma, susceptibility to, 2} | 606661 |
Kury-Isidor syndrome | 619762 | ||
Tumor predisposition syndrome 1 | 614327 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR001578 | Peptidase C12, ubiquitin carboxyl-terminal hydrolase |
Domain | IPR041507 | Peptidase C12, C-terminal domain |
Homologous_superfamily | IPR036959 | Peptidase C12, ubiquitin carboxyl-terminal hydrolase superfamily |
Homologous_superfamily | IPR038765 | Papain-like cysteine peptidase superfamily |
Domain Details Per Protein
Protein | Length | Papain-like cysteine peptidase superfamily | Peptidase C12, C-terminal domain | Peptidase C12, ubiquitin carboxyl-terminal hydrolase | Peptidase C12, ubiquitin carboxyl-terminal hydrolase superfamily |
---|---|---|---|---|---|
UniProtKB:A1L2G3
|
755 | ||||
UniProtKB:F1QJ12
|
755 | ||||
UniProtKB:A0A8M2BLM6
|
754 | ||||
UniProtKB:A0A8M2BL95
|
754 |
Interactions and Pathways
No data available
Plasmids
No data available