Entrez Summary: This gene encodes a subunit of a protein complex that regulates ciliogenesis and cilia maintenance. The encoded protein has also been shown to regulate centriolar duplication. Mutations in this gene cause an orofaciodigital syndrome and a form of Joubert syndrome in human patients. [provided by RefSeq, May 2017].
UniProt Summary: Involved in centriole duplication. Positively regulates CEP63 centrosomal localization. Required for WDR62 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:24613305, PubMed:26297806). {ECO:0000269|PubMed:26297806}.
Pfam DomainsGO Terms
Pfam Domains
No Pfam Domain information is available for this gene.
GO Terms
centriole replication
protein localization to centrosome
protein localization to microtubule organizing center
centriole assembly
centrosome duplication
centriolar satellite
protein localization to microtubule cytoskeleton
protein localization to cytoskeleton
centrosome cycle
microtubule organizing center organization
centriole
microtubule cytoskeleton organization
centrosome
microtubule-based process
protein localization to organelle
organelle assembly
cell cycle process
cytoskeleton organization
cell cycle
cellular protein localization
cellular macromolecule localization
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)