MKS1

Cilia effects upon perturbation of MKS1

Cilia number / % ciliated:

No effect

Loss-of-function effect:

Shorter cilia

Overexpression effect:

Unknown

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-4.34) PMID:29459680
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=982, lfc=-1.86) PMID:30270045

Phenotypes

Mouse phenotype:

increased circulating creatine kise level, process of degenerative change, preweaning lethality, complete penetrance, abnormal il morphology

Human ciliopathy phenotype:

Bardet-Biedl syndrome; Joubert syndrome; Meckel syndrome; Polydactyly; polydactyly; Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28; Polycystic Kidney Disease; Polycystic kidney dysplasia; renal fibrosis

Ciliopathy associations

• Bardet-Biedl Syndrome
• Joubert Syndrome
• Meckel-Gruber Syndrome

Subcellular localization

centrosome, cilia

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Signaling (Hedgehog, GPCRs, ion channels)
• Cardiac & muscle development
• Transition zone
• Cilia length regulation

Function

Required for ciliogenesis of motile and non-motile cilia and post-migration of the centriole to the plasma membrane. Plays an essential role in modulating sig ling in the non-canonical Wnt sig ling pathway (21045211). Modulates centrosome duplication to regular cilia length and number, mutants exhibite fewer and shorter cilia (21045211, 19515853). Interacts with BBS4 to mediate trafficking of subset of membrane proteins to the primary cilium. Role in the structure of the cilia tip compartment (28291807). Regulates ciliary INPP5E content (26490104).