Gene
cplane1
- ID
- ZDB-GENE-091204-92
- Name
- ciliogenesis and planar polarity effector 1
- Symbol
- cplane1 Nomenclature History
- Previous Names
-
- si:ch73-209l12.1
- zmp:0000000995
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to be involved in cilium assembly. Predicted to be active in ciliary transition zone. Human ortholog(s) of this gene implicated in Joubert syndrome 17 and Joubert syndrome with orofaciodigital defect. Orthologous to human CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1).
- Genome Resources
- Note
-
No gene match in Ensembl GRCz11.
- 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
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Joubert syndrome 17 | Alliance | Joubert syndrome 17 | 614615 |
| Joubert syndrome with orofaciodigital defect | Alliance | Orofaciodigital syndrome VI | 277170 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Ciliogenesis and planar polarity effector 1 | WD40-repeat-containing domain superfamily |
|---|---|---|---|
|
UniProtKB:A0A8M9Q691
|
3026 | ||
|
UniProtKB:A0A8M9QC82
|
3011 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance