InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TCTN1

Summary

InnateDB Protein

IDBP-57255.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TCTN1

Protein Name

tectonic family member 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000366882

InnateDB Gene

IDBG-57253 (TCTN1)

Protein Structure

UniProt Annotation

Function

Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Regulator of Hedgehog (Hh), required for both activation and inhibition of the Hh pathway in the patterning of the neural tube. During neural tube development, it is required for formation of the most ventral cell types and for full Hh pathway activation. Functions in Hh signal transduction to fully activate the pathway in the presence of high Hh levels and to repress the pathway in the absence of Hh signals. Modulates Hh signal transduction downstream of SMO and RAB23 (By similarity). {ECO:0000250}.

Subcellular Localization

Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Secreted {ECO:0000305}. Note=Despite the presence of a signal sequence, the full length protein might not be secreted. Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000250}.

Disease Associations

Joubert syndrome 13 (JBTS13) [MIM:614173]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269PubMed:21725307}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.