Gene
bbs1
- ID
- ZDB-GENE-060126-1
- Name
- Bardet-Biedl syndrome 1
- Symbol
- bbs1 Nomenclature History
- Previous Names
-
- im:7144669
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to have patched binding activity and smoothened binding activity. Involved in several processes, including Kupffer's vesicle development; melanosome transport; and morphogenesis of an epithelium. Predicted to localize to BBSome and cytoskeleton. Used to study Bardet-Biedl syndrome. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 1. Is expressed in eye; kidney; and testis. Orthologous to human BBS1 (Bardet-Biedl syndrome 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7144669 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 42 figures from 14 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bardet-Biedl syndrome 1 | Alliance | Bardet-Biedl syndrome 1 | 209900 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Bardet-Biedl syndrome | TU + MO1-bbs1 | standard conditions | Hostelley et al., 2016 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Bardet-Biedl syndrome 1, N-terminal | Quinoprotein alcohol dehydrogenase-like superfamily | WD40/YVTN repeat-like-containing domain superfamily |
|---|---|---|---|---|
|
UniProtKB:A4QP86
|
588 |
Interactions and Pathways
No data available
Plasmids
No data available