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CPLANE1
ciliogenesis and planar polarity effector complex subunit 1
The CPLANE1 gene provides instructions for making a protein involved in the regulation of cellular structures and processes, including ciliogenesis and planar cell polarity. CPLANE1 is a gene that codes for the ciliogenesis and planar polarity effector complex subunit 1 protein.
CPLANE1 is located on the short (p) arm of chromosome 5, at band 5p13.2. Arm ratio per GRCh38 - banding schematic.
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Overview
The CPLANE1 gene, also known as ciliogenesis and planar polarity effector complex subunit 1, is essential for producing a protein involved in key cellular mechanisms. These mechanisms include ciliogenesis, the process of forming cilia, and planar cell polarity, which dictates the organised arrangement of cells within tissues.
Dysregulation of such fundamental cellular processes can have broad implications for development and overall health, highlighting the importance of understanding genes like CPLANE1.
What the gene does
The CPLANE1 protein is a component of a larger complex known as the ciliogenesis and planar polarity effector complex. This complex works to regulate the development and function of cilia, which are microscopic, hair-like structures found on the surface of many cell types. Cilia play diverse roles, from sensory perception to fluid movement across surfaces.
Additionally, CPLANE1 is implicated in planar cell polarity, a biological process where cells within a tissue are oriented in a coordinated manner along a particular axis. This coordinated arrangement is vital for the proper formation and function of many organs and tissues during embryonic development and throughout life. The precise molecular mechanisms by which CPLANE1 contributes to these processes are still subject to ongoing research.
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Chromosome location
The CPLANE1 gene is situated on the short arm of chromosome 5, specifically at position 5p13.2. This location refers to the band of the chromosome where the gene can be found. Genes are ordered along chromosomes, and their specific locations can influence their regulation and expression.
Protein structure
The CPLANE1 protein is quite large, consisting of 3197 amino acids. It features several notable structural elements. Disordered regions are present at amino acids 1822-1852, 2118-2188, 2453-2477, 2771-2793, 2810-2831, 2982-3013, and 3140-3160. Additionally, the protein contains coiled coil domains, which are important for protein-protein interactions, at amino acids 2457-2487 and 2691-2724. These structural features likely contribute to its function within the ciliogenesis and planar polarity effector complex.
Key variants
Genetic variations, or variants, in the CPLANE1 gene can alter the protein's structure or function, potentially impacting its role in ciliogenesis and planar cell polarity. The effect of a variant depends on its specific nature and location within the gene. Understanding these variants is crucial for elucidating their potential biological consequences.
Sample of pathogenic variants
10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.1015del | p.Val339fs | Pathogenic/Likely pathogenic | ★★☆☆ | CPLANE1-related disorders |
c.1396C>T | p.Arg466Ter | Pathogenic/Likely pathogenic | ★★☆☆ | CPLANE1-related disorder |
c.2326dup | p.Thr776fs | Pathogenic/Likely pathogenic | ★★☆☆ | C5ORF42-related disorders |
c.2880del | p.His961fs | Pathogenic/Likely pathogenic | ★★☆☆ | CPLANE1-related disorders |
c.3550C>T | p.Arg1184Cys | Pathogenic/Likely pathogenic | ★★☆☆ | not provided |
c.3557del | p.Lys1186fs | Pathogenic/Likely pathogenic | ★★☆☆ | Orofaciodigital syndrome type 6 |
c.4014dup | p.Asn1339Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Orofaciodigital syndrome type 6 |
c.4195del | p.Gln1399fs | Pathogenic/Likely pathogenic | ★★☆☆ | Inborn genetic diseases |
c.466del | p.Ser156fs | Pathogenic/Likely pathogenic | ★★☆☆ | Joubert syndrome 17 |
c.5872dup | p.Met1958fs | Pathogenic/Likely pathogenic | ★★☆☆ | Orofaciodigital syndrome type 6 |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
Currently, a direct association between variants in the CPLANE1 gene and specific inherited conditions has not been fully established or extensively reported in major clinical databases. Research into the cellular functions of the CPLANE1 protein continues to help understand its potential involvement in human health and disease.
No disease links recorded for this gene in our reference set.
UK clinical status
Frequently asked questions
What does the CPLANE1 gene do?
The CPLANE1 gene provides instructions for making a protein that is a subunit of the ciliogenesis and planar polarity effector complex. This complex is involved in the formation and function of cilia and establishing planar cell polarity within tissues.
What is planar cell polarity?
Planar cell polarity is a fundamental biological process where cells within a tissue are oriented in a coordinated direction. This organised arrangement is essential for the proper development and function of many organs and tissues.
Are there specific health conditions linked to CPLANE1?
At present, specific inherited conditions directly linked to variants in the CPLANE1 gene are not widely documented. Research is ongoing to better understand the full range of its biological roles.