Cplane1 Gene Summary [Mouse]
Acts upstream of or within several processes, including embryonic digit morphogenesis; heart development; and protein localization to ciliary transition zone. Located in ciliary transition zone. Used to study Joubert syndrome 17. 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). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Cplane1 |
| Official Name | ciliogenesis and planar polarity effector 1 [Source:MGI Symbol;Acc:MGI:1920942] |
| Ensembl ID | ENSMUSG00000039801 |
| Bio databases IDs | |
| Aliases | ciliogenesis and planar polarity effector 1 |
| Synonyms | 2410089E03Rik, 4732468D17Rik, b2b012Clo, C5orf42, ciliogenesis and planar polarity effector 1, ciliogenesis and planar polarity effector complex subunit 1, Hug, JBTS17, LOC100132000, LOC679442, LOC679460, LOC679830, LOC679859, OFD6, RGD1310081 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Cplane1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Joubert syndrome-associated
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- orofaciodigital syndrome type 6
- Joubert syndrome type 17
- hereditary disorder
- Joubert syndrome related disorder
- Hodgkin lymphoma
- nephronophthisis
- Joubert syndrome type 1
- Hodgkin disease
- congenital heart disease
- Joubert syndrome
regulated by
- metformin
- NCOA5
role in cell
- assembly
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- ciliary transition zone
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Cplane1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
Cellular Component
Where in the cell the gene product is active
- membrane
- ciliary transition zone