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 enable patched binding activity and smoothened binding activity. Involved in cilium assembly and melanosome transport. Acts upstream of or within several processes, including Kupffer's vesicle development; cholesterol homeostasis; and morphogenesis of an epithelium. Predicted to be located in centriolar satellite and ciliary membrane. Predicted to be part of BBSome. Predicted to be active in axoneme and centrosome. Is expressed in eye; heart; kidney; photoreceptor outer segment layer; and testis. Used to study Bardet-Biedl syndrome. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 1. 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
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR032728 | Bardet-Biedl syndrome 1, N-terminal |
| Domain | IPR056419 | Bardet-Biedl syndrome 1 protein, GAE domain |
| Family | IPR028784 | BBSome complex member BBS1 |
| Homologous_superfamily | IPR011047 | Quinoprotein alcohol dehydrogenase-like superfamily |
| Homologous_superfamily | IPR015943 | WD40/YVTN repeat-like-containing domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Bardet-Biedl syndrome 1, N-terminal | Bardet-Biedl syndrome 1 protein, GAE domain | BBSome complex member BBS1 | Quinoprotein alcohol dehydrogenase-like superfamily | WD40/YVTN repeat-like-containing domain superfamily |
|---|---|---|---|---|---|---|---|
| UniProtKB:A4QP86 | InterPro | 588 |
Interactions and Pathways
No data available
Plasmids
No data available