TCTN1

Cilia effects upon perturbation of TCTN1

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

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=-2.0) PMID:29459680

Phenotypes

Mouse phenotype:

spi bifida, abnormal eye morphology, preweaning lethality, complete penetrance, hemorrhage

Human ciliopathy phenotype:

Joubert syndrome; Joubert syndrome and related disorders; Meckel syndrome

Ciliopathy associations

• Joubert Syndrome
• Meckel-Gruber Syndrome
• Nephronophthisis
• Orofaciodigital Syndrome

References: PMID:21725307, PMID:30286481, PMID:39731278, PMID:28631893, PMID:26477546

Subcellular localization

lysosomes, transition zone, cilia

References: PMID:41005307, PMID:21725307

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Ciliary membrane
• Transition zone

Function

Required for cilium-dependent Hh signal transduction, for transition zone localisation of interacting proteins. Form a complex with Tctn3, Mks1, Tmem216, Tmem67, Cep290, Cc2d2a, B9d1 and Tctn2, which regulates ciliogenesis and ciliary membrane composition. Mutations have been identified to cause JBTS (21725307). Mutations disrupts ciliogenesis and Hh