Gene Symbol: Tctn1
Description: tectonic family member 1
Alias: G730031O11Rik, Tect1, tectonic-1
Yee L, Garcia Gonzalo F, Bowie R, Li C, Kennedy J, Ashrafi K, et al
. Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling. PLoS Genet. 2015;11:e1005627 pubmed publisher
..However, disrupting both Tctn1 and either Nphp1 or Nphp4 exacerbated defects in ciliogenesis and cilia-associated developmental signaling, as did ..
Li C, Jensen V, Park K, Kennedy J, Garcia Gonzalo F, Romani M, et al
. MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. PLoS Biol. 2016;14:e1002416 pubmed publisher
..Together, our findings expand the repertoire of MKS module-associated proteins--including the previously uncharacterised mammalian Tmem80--and suggest an MKS-5 and CEP-290-dependent assembly pathway for building a functional TZ. ..
Sang L, Miller J, Corbit K, Giles R, Brauer M, Otto E, et al
. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 2011;145:513-28 pubmed publisher
..Our study further illustrates the power of linking proteomic networks and human genetics to uncover critical disease pathways. ..
Chih B, Liu P, Chinn Y, Chalouni C, Komuves L, Hass P, et al
. A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. Nat Cell Biol. 2011;14:61-72 pubmed publisher
..The complex that we have described is essential for normal cilia function and acts as a diffusion barrier to maintain the cilia membrane as a compartmentalized signalling organelle. ..
Garcia Gonzalo F, Phua S, Roberson E, Garcia G, Abedin M, Schurmans S, et al
. Phosphoinositides Regulate Ciliary Protein Trafficking to Modulate Hedgehog Signaling. Dev Cell. 2015;34:400-409 pubmed publisher
..Therefore, Inpp5e regulates ciliary membrane phosphoinositide composition, and Tulp3 reads out ciliary phosphoinositides to control ciliary protein localization, enabling Hh signaling. ..
Wang C, Li J, Meng Q, Wang B. Three Tctn proteins are functionally conserved in the regulation of neural tube patterning and Gli3 processing but not ciliogenesis and Hedgehog signaling in the mouse. Dev Biol. 2017;430:156-165 pubmed publisher
b>Tctn1, Tctn2, and Tctn3 are membrane proteins that localize at the transition zone of primary cilia. Tctn1 and Tctn2 mutations have been reported in both humans and mice, but Tctn3 mutations have been reported only in humans...