MAPKBP1

Cilia effects upon perturbation of MAPKBP1

Cilia number / % ciliated:

Decrease

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.42) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

increased blood urea nitrogen level, impaired glucose tolerance, increased circulating phosphate level, increased spleen weight

Human ciliopathy phenotype:

nephronophthisis; nephronophthisis 20

Ciliopathy associations

• Nephronophthisis

References: PMID:28089251

Subcellular localization

basal body

References: PMID:32505465

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation

Function

While wild-type MAPKBP1 exhibited centrosomal, basal body, and microtubule association, mutant proteins lost the latter and showed reduced recruitment to cell cycle dependent centriolar structures (32505465). MAPKBP1/NPHP20 is lost from ciliary basal bodies in NPHP20 patients; knockdown causes shortened primary cilia. JNK activation leads to MAPKBP1 dissociation from basal body and cilia disassembly. Actin pharmacological restoration rescues ciliary length.