MAK
male germ cell associated kinase
- Ensembl:
- ENSG00000111837
- UniProt:
- P20794
- OMIM:
- 154235
- Synonyms:
- DJ417M14.2, RP62
Cilia effects upon perturbation of MAK
- Cilia number / % ciliated:
- Unknown
- Loss-of-function effect:
- Longer 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]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
Phenotypes
- Human ciliopathy phenotype:
- retinitis pigmentosa; retinitis pigmentosa 62
Ciliopathy associations
- Retinal Dystrophy/Degeneration
Subcellular localization
basal body, centrosome, cilia, nucleus
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
- Signaling (Hedgehog, GPCRs, ion channels)
- Transition zone
Function
Involved in the regulation of photoreceptor connecting cilium length. Mutations cause autosomal domi nt Retinitis Pigmentosa (22110072). Essential for the regulation of ciliary length, preventing excessive elongation of the cilia and is required for the long-term survival of photoreceptors (21148103). Forms a complex with DYF-5 to regulate cilia morphology ikely via modulation of microtubule stability (30955935).
Model organism evidence
DYF-5 regulates intraflagellar transport by affecting train turnaround.
We identify several new mutations in genes encoding proteins functioning in intraflagellar transport and cilia assembly, in components of BBSome, MAPK-15, and DYF-5 kinases.
Ccrk-Mak/Ick signaling is a ciliary transport regulator essential for retinal photoreceptor survival.
Interestingly, zebrafish mak mutants failed to generate axonemes during photoreceptor ciliogenesis, whereas basal bodies were specified.
Interestingly, zebrafish mak mutants failed to generate axonemes during photoreceptor ciliogenesis, whereas basal bodies were specified.
PMIDs: 38813692