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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
General
centrosomal protein
phosphoprotein
Properties
SIZE: entity length = 373 aa
MW = 41 kD
COMPARTMENT: cytoplasm
MOTIF: Ser phosphorylation site {S99}
Rhodanese {169-266}
Database Correlations
OMIM correlations
UniProt Q9BYV8
Pfam PF00581
Entrez Gene 95681
Kegg hsa:95681
References
- UniProt :accession Q9BYV8
- Lee JE et al
CEP41 is mutated in Joubert syndrome and is required for
tubulin glutamylation at the cilium.
Nat Genet. 2012 Jan 15;44(2):193-9
PMID: 22246503