Gene
bbip1
- ID
- ZDB-GENE-050208-445
- Name
- BBSome interacting protein 1
- Symbol
- bbip1 Nomenclature History
- Previous Names
-
- bbip10
- si:ch211-197i12.2
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Involved in Kupffer's vesicle development and melanosome transport. Predicted to localize to BBSome. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 18. Orthologous to human BBIP1 (BBSome interacting protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Loktev et al., 2008
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bardet-Biedl syndrome 18 | Alliance | Bardet-Biedl syndrome 18 | 615995 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR028233 | Cilia BBSome complex subunit 10 |
Domain Details Per Protein
| Protein | Length | Cilia BBSome complex subunit 10 |
|---|---|---|
|
UniProtKB:Q1L8Y6
|
72 |
Interactions and Pathways
No data available
Plasmids
No data available