TCTN1 Gene

HGNC Family	Tectonic proteins (TCTN)
Name	tectonic family member 1
Description	This gene encodes a member of a family of secreted and transmembrane proteins. The orthologous gene in mouse functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. This protein is a component of the tectonic-like complex, which forms a barrier between the ciliary axoneme and the basal body. A mutation in this gene was found in a family with Joubert syndrome-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nTCTN1 is a multifunctional protein that plays a critical role in embryonic development and ciliogenesis. It is required in a tissue‐specific manner for the formation of primary cilia and for the proper localization of select membrane-associated proteins, thereby modulating Hedgehog signaling. TCTN1 functions as a component of a transition zone complex with other ciliopathy-associated proteins, and mutations in TCTN1 have been linked to developmental disorders such as Joubert syndrome and Varadi syndrome, highlighting its essential developmental role."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its developmental functions, TCTN1 is aberrantly expressed in a variety of solid tumors where it appears to promote malignant behaviors. In glioblastoma and glioma, elevated TCTN1 levels correlate with tumor viability and aggressiveness, as its knockdown results in reduced cell proliferation and cell cycle arrest. Similar effects have been observed in prostate cancer cells, with TCTN1 depletion inhibiting cell viability, colony formation and migration. In colorectal cancer, TCTN1 overexpression is associated with enhanced proliferation, while its silencing not only induces cell cycle arrest and apoptosis but also points to potential therapeutic targeting. Moreover, interactions with regulatory microRNAs, such as microRNA-216a-5p in gastric cancer, further underscore its role in tumor progression. Lastly, in oral squamous cell carcinoma, TCTN1 is linked to advanced clinical stage and grade, and its downregulation impairs cell migration and invasion, suggesting that the TFAP2A/TCTN1 axis may offer a novel target for therapy."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Francesc R Garcia-Gonzalo, Kevin C Corbit, María Salomé Sirerol-Piquer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.891"}], "href": "https://doi.org/10.1038/ng.891"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21725307"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21725307"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Mohammad M Al-Qattan, Ranad Shaheen, Fowzan S Alkuraya "}, {"type": "b", "children": [{"type": "t", "text": "Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.38336"}], "href": "https://doi.org/10.1002/ajmg.a.38336"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28631893"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28631893"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Huanhuan Wang, Wenting Jiang, Mengyao Dai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Diagnosis of two cases from one family with Joubert syndrome caused by novel mutations of TCTN1 gene by whole exome sequencing]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Yi Xue Yi Chuan Xue Za Zhi (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3760/cma.j.issn.1003-9406.2019.07.007"}], "href": "https://doi.org/10.3760/cma.j.issn.1003-9406.2019.07.007"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31302911"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31302911"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Delong Meng, Yuanyuan Chen, Yingjie Zhao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression and prognostic significance of TCTN1 in human glioblastoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Transl Med (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12967-014-0288-9"}], "href": "https://doi.org/10.1186/s12967-014-0288-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25304031"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25304031"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Jinsong Li, Handong Wang, Chunhua Hang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Lentivirus-Mediated Knockdown of TCTN1 Inhibits Glioma Cell Proliferation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Appl Biochem Biotechnol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s12010-015-1498-1"}], "href": "https://doi.org/10.1007/s12010-015-1498-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25737023"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25737023"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Zhijun Wang, Yi Gao, Yushan Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Tectonic‑1 contributes to the growth and migration of prostate cancer cells in vitro."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Mol Med (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/ijmm.2015.2313"}], "href": "https://doi.org/10.3892/ijmm.2015.2313"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26310786"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26310786"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Xiaoyu Dai, Mingjun Dong, Hua Yu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Knockdown of TCTN1 Strongly Decreases Growth of Human Colon Cancer Cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Med Sci Monit (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.12659/msm.899595"}], "href": "https://doi.org/10.12659/msm.899595"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28123172"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28123172"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Xiaofeng Xu, Feng Gao, Jianjiang Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "microRNA-216a-5p inhibits the development of gastric cancer through target combination with TCTN1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Minerva Med (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.23736/S0026-4806.20.06628-8"}], "href": "https://doi.org/10.23736/S0026-4806.20.06628-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32486612"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32486612"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Guangliang Bai, Ning Wei, Fang Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Function and transcriptional regulation of TCTN1 in oral squamous cell carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncol Rep (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/or.2021.8237"}], "href": "https://doi.org/10.3892/or.2021.8237"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34859261"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34859261"}]}]}]}
Synonyms	JBTS13, TECT1
Proteins	TECT1_HUMAN
NCBI Gene ID	79600
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

TCTN1 has 7,182 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 110 datasets.

Click the + buttons to view associations for TCTN1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

TCTN1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of TCTN1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of TCTN1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of TCTN1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of TCTN1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of TCTN1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of TCTN1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of TCTN1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of TCTN1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of TCTN1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of TCTN1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with TCTN1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of TCTN1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of TCTN1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of TCTN1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with TCTN1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with TCTN1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of TCTN1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of TCTN1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing TCTN1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing TCTN1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing TCTN1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing TCTN1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with TCTN1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with TCTN1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of TCTN1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with TCTN1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with TCTN1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of TCTN1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by TCTN1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving TCTN1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with TCTN1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with TCTN1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with TCTN1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with TCTN1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at TCTN1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of TCTN1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of TCTN1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing TCTN1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with TCTN1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing TCTN1 from the GeneSigDB Published Gene Signatures dataset.