CEP41: Centrosomal Protein 41
A key regulator of ciliogenesis and Joubert syndrome-associated gene
Gene Information Card
| Symbol | CEP41 |
|---|---|
| Full Name | Centrosomal Protein 41 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q32.2 |
| NCBI Gene ID | 95681 ncbi.nlm.nih.gov/gene/95681 |
| Ensembl ID | ENSG00000106460 |
| UniProt ID | Q9BYV8 |
| OMIM ID | 610523 |
| HGNC ID | 26025 |
| Aliases | TSGA14, C7orf24, MGC10731 |
Description
CEP41 (centrosomal protein 41) encodes a protein localized to the centrosome and primary cilium. It is involved in ciliogenesis by regulating tubulin glutamylation via interaction with the tubulin tyrosine ligase-like family member TTLL6. Mutations in CEP41 cause Joubert syndrome type 15 (JBTS15), a ciliopathy characterized by cerebellar vermis hypoplasia, intellectual disability, and retinal dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome 15 (JBTS15) | Loss-of-function mutations impair ciliary tubulin glutamylation, disrupting ciliogenesis and ciliary signaling. | OMIM #614464; Lee et al., 2012, Nat Genet |
| Nephronophthisis-related ciliopathy | CEP41 dysfunction contributes to renal cystic disease in ciliopathy spectrum. | ClinVar; case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain (cerebellum) | 8.7 | Low |
| Kidney | 6.3 | Low |
| Lung | 4.1 | Not detected |
| Liver | 2.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.1 | Embryonic kidney cells; used in functional studies |
| HeLa | 9.8 | Cervical carcinoma; cilia studies |
| hTERT-RPE1 | 11.5 | Retinal pigment epithelial; ciliogenesis model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.713G>A (p.Arg238Gln) | Missense | Rare (gnomAD 0.0004) | Reduced protein stability; loss of ciliary localization |
| c.2T>C (p.Met1Thr) | Start loss | Very rare | Complete loss of translation; pathogenic in JBTS15 |
| c.1066C>T (p.Arg356*) | Nonsense | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Majority of reported CEP41 mutations (nonsense, frameshift, start loss) lead to loss of protein function, impairing ciliogenesis.
Gain of Function (GOF)
No evidence of gain-of-function mutations in CEP41.
Dominant Negative (DN)
Not described; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • cilium (GO:0005929) |
| • cilium assembly (GO:0060271) | • tubulin binding (GO:0015631) |
| • visual perception (GO:0043014) |
Pathways
• Ciliopathy (Joubert syndrome)
• Tubulin glutamylation cycle
• Primary cilium assembly
Protein Summary
CEP41 is a 41 kDa centrosomal protein that localizes to the basal body and axoneme of primary cilia. It interacts with TTLL6 to promote tubulin glutamylation, a post-translational modification essential for ciliary stability and function. Loss of CEP41 disrupts ciliary signaling and leads to Joubert syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP41 Knockout HEK293 Cell Line | EDJ-KQ11346 | Human | 95681 | Details Get a Quote |
| CEP41 Knockout A-549 Cell Line | EDJ-KQ38182 | Human | 95681 | Details Get a Quote |
| CEP41 Knockout HCT 116 Cell Line | EDJ-KQ39514 | Human | 95681 | Details Get a Quote |
| CEP41 Knockout HeLa Cell Line | EDJ-KQ39515 | Human | 95681 | Details Get a Quote |
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