Gene
bbs5
- ID
- ZDB-GENE-040426-1083
- Name
- Bardet-Biedl syndrome 5
- Symbol
- bbs5 Nomenclature History
- Previous Names
-
- zgc:56578 (1)
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to enable phosphatidylinositol-3-phosphate binding activity. Involved in heart looping and melanosome transport. Acts upstream of or within several processes, including Kupffer's vesicle development; camera-type eye photoreceptor cell development; and pigment granule aggregation in cell center. Predicted to be located in centriolar satellite and ciliary membrane. Predicted to be part of BBSome. Predicted to be active in ciliary basal body. Is expressed in forebrain; margin; tail bud; and visual system. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 5. Orthologous to human BBS5 (Bardet-Biedl syndrome 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:56578 (9 images)
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 5 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bardet-Biedl syndrome 5 | Alliance | Bardet-Biedl syndrome 5 | 615983 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | BBSome complex member BBS5 | BBSome complex member BBS5, PH domain | BBSome complex member BBS5/sex-determination protein fem-3 | PH-like domain superfamily |
|---|---|---|---|---|---|---|
| UniProtKB:Q7ZWB7 | InterPro | 342 |
Interactions and Pathways
No data available
Plasmids
No data available