CPLANE1
Ciliogenesis and Planar Polarity Effector Complex Subunit 1
Gene Information Card
| Symbol | CPLANE1 |
|---|---|
| Full Name | Ciliogenesis and Planar Polarity Effector Complex Subunit 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 5p13.2 |
| NCBI Gene ID | 65250 ncbi.nlm.nih.gov/gene/65250 |
| Ensembl ID | ENSG00000113522 |
| UniProt ID | Q9Y3B7 |
| OMIM ID | 614571 |
| HGNC ID | 25801 |
| Aliases | C5orf42, JBTS17, OFD6 |
Description
CPLANE1 encodes a component of the ciliogenesis and planar polarity effector (CPLANE) complex, essential for cilia formation and function. Mutations in this gene are associated with ciliopathies, including Joubert syndrome and orofaciodigital syndrome type VI.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome 17 | Loss of CPLANE1 disrupts ciliogenesis, impairing primary cilium function in brain and other tissues. | OMIM #614571 |
| Orofaciodigital syndrome VI | Defective cilia assembly due to CPLANE1 mutations leads to developmental abnormalities. | OMIM #277170 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.6 | Medium |
| Brain | 5.2 | Low |
| Kidney | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.3 | Embryonic kidney cells |
| SH-SY5Y | 4.8 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.601C>T (p.Arg201*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.1234G>A (p.Gly412Arg) | Missense | Rare | Likely damaging; disrupts protein function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, impairing ciliogenesis.
Gain of Function (GOF)
Not reported for CPLANE1.
Dominant Negative (DN)
Not reported for CPLANE1.
View complete mutation data：
Gene Ontology (GO)
| • cilium assembly | • cell projection organization |
| • protein binding |
Pathways
• Ciliogenesis
• Planar cell polarity pathway
Protein Summary
CPLANE1 is a 1340-amino acid protein that localizes to the basal body and is required for cilia formation. It interacts with other CPLANE complex members to regulate ciliary vesicle docking and axoneme extension.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPLANE1 Knockout HEK293 Cell Line | EDJ-KQ12992 | Human | 65250 | Details Get a Quote |
| CPLANE1 Knockout A-549 Cell Line | EDJ-KQ42231 | Human | 65250 | Details Get a Quote |
| CPLANE1 Knockout HCT 116 Cell Line | EDJ-KQ42232 | Human | 65250 | Details Get a Quote |
| CPLANE1 Knockout HeLa Cell Line | EDJ-KQ42233 | Human | 65250 | Details Get a Quote |
