ID:TECT1_HUMAN DESCRIPTION: RecName: Full=Tectonic-1; Flags: Precursor; 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). SUBUNIT: Part of the tectonic-like complex (also named B9 complex) (By similarity). SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body (By similarity). Secreted (Potential). Note=Despite the presence of a signal sequence, the full length protein might not be secreted (By similarity). Localizes at the transition zone, a region between the basal body and the ciliary axoneme (By similarity). DISEASE: Defects in TCTN1 are the cause of Joubert syndrome type 13 (JBTS13) [MIM:614173]. JBTS13 is 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. SIMILARITY: Belongs to the tectonic family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF07773 - Protein of unknown function (DUF1619)
ModBase Predicted Comparative 3D Structure on Q2MV58
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Biological Process: GO:0001701 in utero embryonic development GO:0001841 neural tube formation GO:0007275 multicellular organism development 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:0030030 cell projection organization GO:0060271 cilium assembly GO:0097711 ciliary basal body docking GO:1904491 protein localization to ciliary transition zone
AK295514 - Homo sapiens cDNA FLJ55161 complete cds, highly similar to Tectonic-1 precursor. DQ278868 - Homo sapiens Tectonic mRNA, complete cds. AK055891 - Homo sapiens cDNA FLJ31329 fis, clone MAMGL1000032. AK092775 - Homo sapiens cDNA FLJ35456 fis, clone SMINT2004583. AX747722 - Sequence 1247 from Patent EP1308459. AK024780 - Homo sapiens cDNA: FLJ21127 fis, clone CAS06212. BC040113 - Homo sapiens tectonic family member 1, mRNA (cDNA clone MGC:48684 IMAGE:6054789), complete cds. BC033811 - Homo sapiens tectonic family member 1, mRNA (cDNA clone IMAGE:5182299), complete cds. JD477073 - Sequence 458097 from Patent EP1572962. AK301732 - Homo sapiens cDNA FLJ53230 complete cds, highly similar to Tectonic-1 precursor. JD523687 - Sequence 504711 from Patent EP1572962. AY358184 - Homo sapiens clone DNA211245 RPRG9369 (UNQ9369) mRNA, complete cds. BC044885 - Homo sapiens tectonic family member 1, mRNA (cDNA clone IMAGE:5273389). BC062611 - Homo sapiens tectonic family member 1, mRNA (cDNA clone MGC:74751 IMAGE:5184202), complete cds. KJ894692 - Synthetic construct Homo sapiens clone ccsbBroadEn_04086 TCTN1 gene, encodes complete protein. JD024011 - Sequence 5035 from Patent EP1572962. JD032467 - Sequence 13491 from Patent EP1572962. JD021684 - Sequence 2708 from Patent EP1572962. JD026667 - Sequence 7691 from Patent EP1572962. JD034937 - Sequence 15961 from Patent EP1572962. BC030993 - Homo sapiens tectonic family member 1, mRNA (cDNA clone IMAGE:4556434), partial cds. AK128417 - Homo sapiens cDNA FLJ46560 fis, clone THYMU3040146. CU675596 - Synthetic construct Homo sapiens gateway clone IMAGE:100023249 3' read HVCN1 mRNA.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q2MV58 (Reactome details) participates in the following event(s):
R-HSA-5626681 Recruitment of transition zone proteins R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A R-HSA-5620912 Anchoring of the basal body to the plasma membrane R-HSA-5617833 Cilium Assembly R-HSA-1852241 Organelle biogenesis and maintenance
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
