TCTN1

tectonic family member 1

Ensembl:
ENSG00000204852
UniProt:
Q2MV58
OMIM:
609863
Synonyms:
FLJ21127, JBTS13, TECT1

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
Mouse ciliopathy phenotype:
abnormal vitreous body morphology
Human ciliopathy phenotype:
Joubert syndrome; Joubert syndrome and related disorders; Meckel syndrome

Ciliopathy associations

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

Subcellular localization

lysosomes, transition zone

Functional category

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

Function

Required for cilium-dependent Hh sig l 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

Model organism evidence

Mus musculus (3 references)

Loss of Tctn1 results in the absence of the entire tectonic complex and associated MKS proteins yet has minimal effects on the transition zone structure of rod photoreceptors.

Ocular manifestations of renal ciliopathies.

PMIDs: 37704658, 37644229, 30286481

Danio rerio (1 reference)

Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants.

PMIDs: 36533556