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Protein moonraker (KIAA0753)
- Target
- KIAA0753
- Molecular classification
- Other (centrosomal/ciliary protein, structural/associated with centrioles and pericentriolar satellites)
01
Overview
Protein moonraker (KIAA0753) is a centrosome- and cilia-associated structural/regulatory protein. It is essential for centriole duplication and ciliogenesis, mediating the localization of key proteins (CEP63, WDR62, CDK2) at the centrosome—required for spindle assembly and cilia formation. Loss or dysfunction causes a spectrum of ciliopathies, notably Orofaciodigital syndrome, Joubert syndrome, and short-rib thoracic dysplasia. The protein interacts with OFD1, FOPNL, FOR20, and PCM1 and operates as part of the pericentriolar material and centriolar satellites[1][4][9]. There are no known drugs directly targeting KIAA0753, and its role as a target is restricted to genetic and diagnostic study in developmental diseases, not classical therapeutic intervention.
- Other names
- KIAA0753MoonrakerMNROFIPOFD1 and FOPNL-interacting proteinOFD1 and FOR20 interacting proteinJBTS38SRTD21RIKEN cDNA 4933427D14 geneGm439514933427D14RikRGD1304728
02
Mechanism of action
Not applicable for drugs; mechanistically, the protein facilitates centriole and cilia assembly through interaction with OFD1, FOPNL, CEP63, WDR62, and others
03
Biological functions
Centriole duplicationCentrosome and spindle assemblyRegulation of ciliogenesis and cilia maintenanceRegulation of centrosomal localization of CEP63, WDR62, CDK2
04
Disease associations
CiliopathiesOrofaciodigital syndrome (OFD) subgroupJoubert syndrome (JBTS38)Short-rib thoracic dysplasia (SRTD21)Other developmental brain/ciliary disorders
05
Safety considerations
Not directly applicable; however, mutations result in developmental defects and ciliary disorders, which challenge therapeutic correction and patient management
06
Biomarkers
Mutations or loss-of-function in KIAA0753 serve as biomarkers for ciliopathies such as OFD syndrome and related neurodevelopmental disorders
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