KIAA0753

Description

The KIAA0753 (KIAA0753) is a protein-coding gene located on chromosome 17.

KIAA0753 is a human gene located on chromosome 17p13.1, spanning bases 6578141 to 6641744. It contains 18 exons and 19 introns. The protein encoded by KIAA0753 is 976 amino acids long and contains two domains: DUF3498 (amino acids 508-663) and Cdt1_m (amino acids 45-123). While DUF3498 is conserved in orthologous species, Cdt1_m is not. KIAA0753 has no known paralogs, but has a wide variety of orthologous species, including primates, amphibians, and fish. The most distant orthologs were found in the giant owl limpet and an acorn worm species.

KIAA0753 plays a role in centriole duplication, positively regulates CEP63 centrosomal localization, and is required for WDR62 centrosomal localization. It also promotes the centrosomal localization of CDK2 and may play a role in cilium assembly.

KIAA0753 is also known as JBTS38, MNR, OFIP, SRTD21.

Associated Diseases

• Orofaciodigital syndrome type 6
• Jeune syndrome
• Joubert syndrome 38
• Short-rib thoracic dysplasia 21 without polydactyly
• Joubert syndrome
• Orofaciodigital syndrome XV