CEP19

Cilia effects upon perturbation of CEP19

Cilia number / % ciliated:

No effect

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-4.37) PMID:29459680

Phenotypes

Mouse phenotype:

decreased circulating serum albumin level, decreased total reti thickness, improved glucose tolerance, abnormal reti outer nuclear layer morphology, decreased bone mineral density, decreased bone mineral content, decreased lean body mass, increased total body fat amount, decreased circulating alkaline phosphatase level, decreased prepulse inhibition, decreased heart weight, decreased circulating total protein level, abnormal bone structure, decreased body length, abnormal coat appearance

Mouse ciliopathy phenotype:

female infertility, male infertility

Ciliopathy associations

• Ciliary Monogenic Obesity
• Male Infertility

Subcellular localization

basal body, centrosome

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation

Function

Recruitment of ciliary vesicles to the centrioles during early ciliogenesis, which suggest it is a regulator for membrane trafficking pathways . CEP19 recruits and associates with RABL2 to the basal body, promoting cilia assembly via its interactions with the FT-B complex (28659385). CEP19-RABL2B complex plays a critical role as a regulator to initiate intraflagellar transport (28625565, 28428259).