Ask about this productRelated genes to: TCTN1 antibody
- Gene:
- TCTN1 NIH gene
- Name:
- tectonic family member 1
- Previous symbol:
- -
- Synonyms:
- FLJ21127, TECT1, JBTS13
- Chromosome:
- 12q24.11
- Locus Type:
- gene with protein product
- Date approved:
- 2007-08-20
- Date modifiied:
- 2014-11-19
Related products to: TCTN1 antibody
Related articles to: TCTN1 antibody
- Source: PubMed
- Cilia protrude from the cell surface to execute signal transduction and cell motility. Tectonic (TCTN) is a transition-zone (TZ) "gatekeeper" that determines ciliary composition and function. The role of its only conserved module in the TCTN protein family, DUF1619, lacks functional annotation. Herein, we quantitatively compared full-length TCTN1 and four truncations (DUF1619, ΔDUF1619, N-DUF1619, and DUF1619-C) stably expressed in cells. Surprisingly, neither fragment could rescue ciliary morphology of ; DUF1619 alone aggravates ciliary defects. In particular, deletion of either terminus decreases TZ localization and, for the C-terminus, destabilizes the protein during ciliary disassembly. Thus, our findings demonstrate that the full-length TCTN1, rather than DUF1619 alone, is indispensable for ciliary integrity. - Source: PubMed
Publication date: 2025/11/24
Yu HuiminJiang LinXu ChuangLi YaWang SuhuiMa ZhaoQian YunyaoWu YiqiongMiao ChenyuDong ZhouzhouWang Liang - Meckel-Gruber syndrome (MKS) is a clinically and genetically heterogeneous ciliopathy characterized by a triad of occipital encephalocele, polycystic kidneys, and postaxial polydactyly. Almost all of them are lethal in the prenatal or first postnatal periods. It is usually diagnosed clinically with a detailed prenatal ultrasound examination. Variants have been reported in at least 14 different genes. - Source: PubMed
Publication date: 2025/03/03
Turan LeylaGökpinar Ili EzgiDoğan MustafaErenel HakanGezdirici Alper - Ginkgolic acid (GA) exhibits various biological activities, but its role in vascular restenosis remains unreported. GA (13:0) is a relatively abundant natural congener. This study aims to investigate and clarify the effects and mechanisms of GA (13:0) on vascular smooth muscle cell (VSMC) proliferation and migration in vitro, as well as on balloon injury-induced vascular restenosis in rats. The results showed that GA (13:0) significantly inhibited VSMC proliferation, migration, and intimal thickening both in vitro and in vivo. Moreover, GA (13:0) reduced the expression of cyclin D1, cyclin E1, CDK2, and CDK4, as well as cyclin D1-CDK4 and cyclin E1-CDK2 binding, leading to G0/G1 arrest. Additionally, GA (13:0) suppressed vimentin expression and actin cytoskeleton polymerization and altered F-actin morphology. Comparative proteomics identified tectonic family member 1 (TCTN1) as a potential molecular target of GA (13:0). GA (13:0) reduced TCTN1 expression both in vitro and in vivo. Crucially, TCTN1 overexpression notably reversed the inhibitory effects of GA (13:0) on VSMC proliferation, migration, intimal thickening, expression and binding of cell cycle-related proteins, and vimentin expression. Concurrently, TCTN1 overexpression also reversed GA (13:0)-induced F-actin depolymerization and rearrangement and G0/G1 arrest. GA (13:0) significantly inhibited TCTN1 co-localization with vimentin and actin in vitro and in vivo. Furthermore, we found that CCCTC binding factor (CTCF) binds to the 162-176 site of the TCTN1 promoter to regulate TCTN1 transcription, and CTCF knockout significantly down-regulated TCTN1 protein levels. This study reveals that GA (13:0) inhibits TCTN1 transcription and expression, hindering G1/S transition, vimentin expression, and F-actin rearrangement, thereby suppressing vascular restenosis. - Source: PubMed
Publication date: 2025/12/03
Shao YutingYi LingyanZhu QingyuZhou YulinChen TingtingYao Wenjuan - Renal ciliopathies are a genetically and phenotypically heterogeneous group of diseases characterized by cystic and dysplastic kidneys. The aim of this study was to investigate the correlation between genetic changes that cause renal ciliopathies and phenotypic outcomes. The study group consisted of 137 patients diagnosed with renal ciliopathy disease. One hundred nineteen patients had ADPKD phenotype, 7 patients had ARPKD phenotype, 4 patients had nephronophthisis, 1 patient had Senior-Loken syndrome, 4 patients had Bardet-Biedl syndrome, 1 patient had Joubert syndrome and 1 patient had Meckel Gruber syndrome phenotype. Among patients with autosomal dominant polycystic kidney disease, patients with the PKD1 gene mutation had higher creatinine levels (p value: 0.020) and no arachnoid cysts were revealed in the PKD2 group (p value: 0.014). When the domains were compared, the finding of arachnoid cyst in patients with mutations in the transmembrane domain was statistically significant (p value: 0.021). Homozygous likely pathogenic variant in the TCTN1 gene was reported in a fetus who had findings of Meckel-Gruber syndrome; microphthalmia and cardiac hypoplasia were reported as novel findings. As a conclusion, we identified variant spectrum of renal ciliopathies in Turkish cohort and revealed the association between the transmembrane domain and arachnoid cyst. - Source: PubMed
Publication date: 2024/12/27
Ercoskun PelinAydin Gumus AydenizGokpinar Ili EzgiYilmaz Celik LaleDogan MustafaYavuz SevgiYildiz GurselGezdirici Alper