Homo sapiens Protein: TCTN1
InnateDB Protein IDBP-234841.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TCTN1
Protein Name tectonic family member 1
Species Homo sapiens
Ensembl Protein ENSP00000380779
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
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.
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0001701 in utero embryonic development
GO:0001841 neural tube formation
GO:0008589 regulation of smoothened signaling pathway
GO:0021523 somatic motor neuron differentiation
GO:0021537 telencephalon development
GO:0021904 dorsal/ventral neural tube patterning
GO:0021956 central nervous system interneuron axonogenesis
GO:0060271 cilium morphogenesis
Cellular Component
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0016020 membrane
GO:0035869 ciliary transition zone
GO:0036038 TCTN-B9D complex
Protein Structure and Domains
InterPro IPR011677 Domain of unknown function DUF1619
PFAM PF07773
Post-translational Modifications
SwissProt Q2MV58
PhosphoSite PhosphoSite-Q2MV58
UniProt Splice Variant
Entrez Gene 79600
UniGene Hs.737105
RefSeq NP_001076007
OMIM 609863
HPRD 08636
EMBL AC002350 AC144522 AK024780 AK055891 AK092775 AY358184 BC040113 BC044885 BC062611 DQ278868
GenPept AAH40113 AAH62611 AAQ88551 ABB90560 BAB15000 BAB71036 BAC03973