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
- 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 | Additional Resources | Length | Ciliogenesis and planar polarity effector 1 | WD40-repeat-containing domain superfamily |
|---|---|---|---|---|
| UniProtKB:A0A8M9Q691 | InterPro | 3026 | ||
| UniProtKB:A0A8M9QC82 | InterPro | 3011 | ||
| UniProtKB:A0AB32U2M6 | InterPro | 3013 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance