TCTN1
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. Belongs to the tectonic family. 6 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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Protein type: Secreted; Secreted, signal peptide |
Chromosomal Location of human Ortholog: 12q24.11 |
Cellular Component:
cytoskeleton; cytosol; extracellular space; membrane; MKS complex
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Biological Process:
central nervous system interneuron axonogenesis; cilium assembly; dorsal/ventral neural tube patterning; in utero embryonic development; neural tube formation; protein localization to ciliary transition zone; regulation of smoothened signaling pathway; somatic motor neuron differentiation; telencephalon development
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Disease: Joubert Syndrome 13
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Reference #:
Q2MV58
(UniProtKB)
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Alt. Names/Synonyms: FLJ21127; JBTS13; TCTN1; TECT1; tectonic 1; tectonic family member 1; Tectonic-1
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Gene Symbols: TCTN1
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Molecular weight:
63,570 Da
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Basal Isoelectric point:
5.32
Predict pI for various phosphorylation states
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