MAPKBP1
mitogen-activated protein kinase binding protein 1
- Ensembl:
- ENSG00000137802
- UniProt:
- O60336
- OMIM:
- 616786
- Synonyms:
- KIAA0596, NPHP20
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
- Mouse ciliopathy phenotype:
- increased heart weight, increased kidney weight
- Human ciliopathy phenotype:
- nephronophthisis; nephronophthisis 20
Ciliopathy associations
- Nephronophthisis
Subcellular localization
basal body
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.