CEP104

Cilia effects upon perturbation of CEP104

Loss-of-function effect:

No effect

Overexpression effect:

No effect

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.34) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-1.81) PMID:29459680

Phenotypes

Mouse phenotype:

preweaning lethality, complete penetrance, preweaning lethality, incomplete penetrance

Human ciliopathy phenotype:

Joubert syndrome 25; Joubert syndrome and related disorders; Joubert syndrome

Ciliopathy associations

• Intellectual Developmental Disorder
• Joubert Syndrome

Subcellular localization

basal body, centrosome, cilia

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation

Function

Has an important role in regulating microtubule length in cilia by facilitating tubulin addition to ciliary and might also be involved in regulating other factors, possibly by interacting with Nek1. Cep104 is involved in the stabilization of the ciliary axoneme or in cilia formation and elongation, mutations cause ciliopathies (28017521). Regulates ciliary assembly by interacting with centriolar proteins that suppress cilia formation, detaches from these proteins at the onset of cilia formation and moves to the tip of the scent cilium (23970417).Loss of function of GFP-FAP256A Specifically shortened the distal segment (~250 nm), and overexpression of GFP-FAP256A shortened the CP region, but total length unchanged(PMID: 30217954).