centrosomal protein of 41 kD; Cep41; testis-specific gene A14 protein (CEP41 TSGA14)

Function

• required during ciliogenesis for tubulin glutamylation in cilium
• probably acts by participating to the transport of TTLL6, a tubulin polyglutamylase, between the basal body & the cilium
• found in a complex with TTLL6

Structure

• although it contains a rhodanese domain, does not display phosphatase activity, suggesting that the protein is enzymatically inactive
• belongs to the CEP41 family
• contains 1 rhodanese domain

Compartment

• cytoplasm, cytoskeleton, centrosome
• cell projection, cilium, cilium basal body
• localizes mainly to the cilium basal body & in primary cilia

Alternative splicing

named isoforms=5

Expression

• isoform 1 & isoform 4 are expressed in testis & fetal tissues

Pathology

• defects in CEP41 are the cause of Joubert syndrome type 15

Polymorphism

• genetic variations in CEP41 may be associated with susceptibility to autism

More general terms

• centrosomal protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=95681
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:95681
• OMIM: https://mirror.omim.org/entry/610523
• OMIM: https://mirror.omim.org/entry/614464
• UniProt: http://www.uniprot.org/uniprot/Q9BYV8.html