Gene
bms1
- ID
- ZDB-GENE-060720-2
- Name
- BMS1 ribosome biogenesis factor
- Symbol
- bms1 Nomenclature History
- Previous Names
-
- bms1l
- im:7152071
- wu:fb37d08
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to have GTP binding activity; GTPase activity; and U3 snoRNA binding activity. Involved in liver development; pancreas development; and rRNA processing. Localizes to nucleolus. Human ortholog(s) of this gene implicated in ectodermal dysplasia. Is expressed in gut; liver; pancreas; and retina. Orthologous to human BMS1 (BMS1 ribosome biogenesis factor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7152071 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| nonsyndromic aplasia cutis congenita | Alliance | ?Aplasia cutis congenita, nonsyndromic | 107600 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR007034 | Ribosome biogenesis protein BMS1/TSR1, C-terminal |
| Domain | IPR012948 | AARP2CN |
| Domain | IPR030387 | Bms1/Tsr1-type G domain |
| Domain | IPR037875 | Ribosome biogenesis protein Bms1, N-terminal |
| Family | IPR039761 | Ribosome biogenesis protein Bms1/Tsr1 |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Domain Details Per Protein
| Protein | Length | AARP2CN | Bms1/Tsr1-type G domain | P-loop containing nucleoside triphosphate hydrolase | Ribosome biogenesis protein Bms1, N-terminal | Ribosome biogenesis protein Bms1/Tsr1 | Ribosome biogenesis protein BMS1/TSR1, C-terminal |
|---|---|---|---|---|---|---|---|
|
UniProtKB:E7F349
|
1221 |
Interactions and Pathways
No data available
Plasmids
No data available