CPLANE1 Gene Summary [Human]
The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]
Details
| Type | Protein Coding |
| Official Symbol | CPLANE1 |
| Official Name | ciliogenesis and planar polarity effector 1 [Source:HGNC Symbol;Acc:HGNC:25801] |
| Ensembl ID | ENSG00000197603 |
| Bio databases IDs | |
| Aliases | ciliogenesis and planar polarity effector 1, ciliogenesis and planar polarity effector complex subunit 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 | Human, Homo sapiens |
| 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 human 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.
regulated by
- metformin
- NCOA5
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
phenotypes
- Joubert Syndrome
- Monomelic amyotrophy
- Orofaciodigital syndrome type 6
- JOUBERT SYNDROME 17
- OROFACIODIGITAL SYNDROME VI
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 human 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