CEP41

Cilia effects upon perturbation of CEP41

Cilia number / % ciliated:

Decreased cilia number

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.79) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

process of degenerative change, hypoplasia

Human ciliopathy phenotype:

Joubert syndrome; Joubert syndrome with ocular defect

Ciliopathy associations

• Autism Spectrum Disorder
• Joubert Syndrome

References: PMID:22246503, PMID:36580738, PMID:30504730, doi:10.1101/2025.07.09.663904

Subcellular localization

basal body, centrosome, cytosol

References: Human Protein Atlas, PMID:22246503, PMID:31885126

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Protein processing & maturation
• Cell migration & adhesion

Function

Regulation of tubulin glutamyl posttranslational modifications by mediating ciliary transport of TTLL6 between the basal body and cilium, therefore, it is also required for localising TTLL6 to the cilium. CEP41 is also involved in ciliary structural formation and motility through glutamylation and its loss of CEP41 has been identified as a cause of Joubert syndrome (22246503). CEP41 regulates cilia disassembly and angiogenesis through AURKA activation by modulating axonemal tubulin glutamylation (31885126)