CEP250

Cilia effects upon perturbation of CEP250

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

No effect

Ciliogenesis screen results (5 screens)

• Kim2016: Not Reported
• 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
• Kim et al. 2010 (siRNA) [siRNA]: Longer Cilia (Area per Cilia z=2.91) PMID:20393562

Phenotypes

Mouse phenotype:

increased total body fat amount, absent pin reflex

Mouse ciliopathy phenotype:

male infertility, abnormal auditory brainstem response

Human ciliopathy phenotype:

cone-rod dystrophy and hearing loss

Ciliopathy associations

• Cone-Rod Dystrophy
• Retinal Dystrophy/Degeneration

Subcellular localization

basal body, centrosome, cytosol

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Protein processing & maturation
• Signaling (Hedgehog, GPCRs, ion channels)

Function

Interact with proteins implicated in rhodopsin trafficking (NEK2 and NINL). Rrecruitment of several proteins to centriole proximal ends, including Girdin (Girders of actin filaments) and proteins that associate with the distal region of the mother centriole (NEK2, ninein, CEP170, p150glued and KIF2A) (30421101). C- P1 anchores rootletin filaments that hold duplicated centrosomes together(28100636). Mutations are associated to Usher Syndrome and retinitis pigmentosa (28005958).