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
- Acts upstream of or within Kupffer's vesicle development and melanosome transport. Predicted to be located in cilium and cytoplasm. Predicted to be part of 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