ID:TECT3_HUMAN DESCRIPTION: RecName: Full=Tectonic-3; Flags: Precursor; FUNCTION: Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). May be involved in apoptosis regulation. Necessary for signal transduction through the sonic hedgehog (Shh) signaling pathway. SUBUNIT: Part of the tectonic-like complex (also named B9 complex) (By similarity). SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential). DISEASE: Defects in TCTN3 are the cause of orofaciodigital syndrome 4 (OFD4) [MIM:258860]. A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD4 patients have tongue nodules, multiple frenulae, broad flat nose, hypertelorism, and short rib polydactyly with tibial dysplasia (Majewski syndrome). The presence of severe tibial aplasia differentiates OFD4 from OFD1. Additional features of cystic dysplastic kidneys and brain malformation, including occipital encephalocele, are observed in severely affected patients. DISEASE: Defects in TCTN3 are the cause of Joubert syndrome 18 (JBTS18) [MIM:614815]. A form of Joubert syndrome, 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. JBTS18 patients have vermis agenesis and the molar tooth sign as well as severe kyphoscoliosis. Other features include intrauterine growth retardation, oral anomalies, micrognathism, polydactyly and camptodactyly, joint laxity, horseshoe kidney, and ventricular septal defect. Note=TCTN3- mutated fibroblasts from JBTS18 patients fail to respond to Shh agonists suggesting that at least some of the defects in affected individuals may be secondary to reduced Shh signaling (PubMed:22883145). SIMILARITY: Belongs to the tectonic family. SEQUENCE CAUTION: Sequence=AAH68449.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=ABB90564.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAC11567.1; Type=Frameshift; Positions=238; Sequence=BAC87634.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAI16768.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
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 Q6NUS6
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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.
AK075357 - Homo sapiens cDNA PSEC0041 fis, clone NT2RP1000921. AL050022 - Homo sapiens mRNA; cDNA DKFZp564D116 (from clone DKFZp564D116). AK098295 - Homo sapiens cDNA FLJ40976 fis, clone UTERU2013586. BC068449 - Homo sapiens tectonic family member 3, mRNA (cDNA clone MGC:87002 IMAGE:5298627), complete cds. DQ278872 - Homo sapiens TECT3 (TECT3) mRNA, complete cds. JD412078 - Sequence 393102 from Patent EP1572962. BC009494 - Homo sapiens tectonic family member 3, mRNA (cDNA clone IMAGE:3940375), partial cds. JD324396 - Sequence 305420 from Patent EP1572962. AK299141 - Homo sapiens cDNA FLJ58250 complete cds, highly similar to Tectonic 3 precursor. JD419703 - Sequence 400727 from Patent EP1572962. JD465324 - Sequence 446348 from Patent EP1572962. AY359022 - Homo sapiens clone DNA83560 RTPQ1881 (UNQ1881) mRNA, complete cds. AK128834 - Homo sapiens cDNA FLJ46329 fis, clone TESTI4044770. JD313601 - Sequence 294625 from Patent EP1572962. DQ578386 - Homo sapiens piRNA piR-46498, complete sequence. JD181416 - Sequence 162440 from Patent EP1572962. KJ902420 - Synthetic construct Homo sapiens clone ccsbBroadEn_11814 TCTN3 gene, encodes complete protein. KJ893523 - Synthetic construct Homo sapiens clone ccsbBroadEn_02917 TCTN3 gene, encodes complete protein. BC061582 - Homo sapiens tectonic family member 3, mRNA (cDNA clone IMAGE:6174336), partial cds. CU686635 - Synthetic construct Homo sapiens gateway clone IMAGE:100023240 5' read TCTN3 mRNA. JD409958 - Sequence 390982 from Patent EP1572962. JD288012 - Sequence 269036 from Patent EP1572962. JD060181 - Sequence 41205 from Patent EP1572962. JD086709 - Sequence 67733 from Patent EP1572962. JD528374 - Sequence 509398 from Patent EP1572962. JD171324 - Sequence 152348 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q6NUS6 (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 
