CEP41

centrosomal protein 41

Ensembl:
ENSG00000106477
UniProt:
Q9BYV8
OMIM:
610523
Synonyms:
DKFZP762H1311, FLJ22445, JBTS15, TSGA14

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
Mouse ciliopathy phenotype:
hydrocephalus, male infertility
Human ciliopathy phenotype:
Joubert syndrome; Joubert syndrome with ocular defect

Ciliopathy associations

  • Joubert Syndrome
  • Autism Spectrum Disorder

Subcellular localization

basal body, centrosome, cytosol

Functional category

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

Function

Regulation of tubulin glutamyl posttranslatio l 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)

Model organism evidence

C. elegans (1 reference)

CEP41 is a JBTS-associated protein that is found in cilia and the basal body of mammals, but its localization in other ciliary organisms remains elusive.

PMIDs: 34113804

Danio rerio (2 references)

We show that proper control of tubulin glutamylation by CEP41 is necessary for cilia disassembly and that is involved in endothelial cell (EC) dynamics such as migration and tubulogenesis.

We show that CEP41 is localized to the basal body and primary cilia, and regulates ciliary entry of TTLL6, an evolutionarily conserved polyglutamylase enzyme.

PMIDs: 31885126, 22246503

Mus musculus (1 reference)

We show that CEP41 is localized to the basal body and primary cilia, and regulates ciliary entry of TTLL6, an evolutionarily conserved polyglutamylase enzyme.

PMIDs: 22246503