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Aliases for TCTN1 Gene

Aliases for TCTN1 Gene

  • Tectonic Family Member 1 2 3 5
  • TECT1 3 4
  • JBTS13 3

External Ids for TCTN1 Gene

Previous GeneCards Identifiers for TCTN1 Gene

  • GC12P109537
  • GC12P111051
  • GC12P108069

Summaries for TCTN1 Gene

Entrez Gene Summary for TCTN1 Gene

  • 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]

GeneCards Summary for TCTN1 Gene

TCTN1 (Tectonic Family Member 1) is a Protein Coding gene. Diseases associated with TCTN1 include joubert syndrome 13 and tctn1-related joubert syndrome. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. An important paralog of this gene is TCTN3.

UniProtKB/Swiss-Prot for TCTN1 Gene

  • 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).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TCTN1 Gene

Genomics for TCTN1 Gene

Regulatory Elements for TCTN1 Gene

Enhancers for TCTN1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TCTN1 on UCSC Golden Path with GeneCards custom track

Promoters for TCTN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TCTN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TCTN1 Gene

Chromosome:
12
Start:
110,614,027 bp from pter
End:
110,649,430 bp from pter
Size:
35,404 bases
Orientation:
Plus strand

Genomic View for TCTN1 Gene

Genes around TCTN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TCTN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TCTN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCTN1 Gene

Proteins for TCTN1 Gene

  • Protein details for TCTN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2MV58-TECT1_HUMAN
    Recommended name:
    Tectonic-1
    Protein Accession:
    Q2MV58
    Secondary Accessions:
    • A8MX11
    • Q49A60
    • Q6P5X1
    • Q6UXW2
    • Q8NAE9
    • Q96N72
    • Q9H798

    Protein attributes for TCTN1 Gene

    Size:
    587 amino acids
    Molecular mass:
    63570 Da
    Quaternary structure:
    • Part of the tectonic-like complex (also named B9 complex).

    Alternative splice isoforms for TCTN1 Gene

neXtProt entry for TCTN1 Gene

Proteomics data for TCTN1 Gene at MOPED

Post-translational modifications for TCTN1 Gene

  • Glycosylation at Asn 36, Asn 295, and Asn 528
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for TCTN1

No data available for DME Specific Peptides for TCTN1 Gene

Domains & Families for TCTN1 Gene

Gene Families for TCTN1 Gene

Protein Domains for TCTN1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TCTN1 Gene

Graphical View of Domain Structure for InterPro Entry

Q2MV58

UniProtKB/Swiss-Prot:

TECT1_HUMAN :
  • Belongs to the tectonic family.
Family:
  • Belongs to the tectonic family.
genes like me logo Genes that share domains with TCTN1: view

Function for TCTN1 Gene

Molecular function for TCTN1 Gene

UniProtKB/Swiss-Prot 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).
genes like me logo Genes that share phenotypes with TCTN1: view

Human Phenotype Ontology for TCTN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for TCTN1

miRNA for TCTN1 Gene

miRTarBase miRNAs that target TCTN1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for TCTN1 Gene

Localization for TCTN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TCTN1 Gene

Cytoplasm, cytoskeleton, cilium basal body. Secreted. Note=Despite the presence of a signal sequence, the full length protein might not be secreted. Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TCTN1 Gene COMPARTMENTS Subcellular localization image for TCTN1 gene
Compartment Confidence
cytoskeleton 4
cytosol 4
extracellular 4
nucleus 2
lysosome 1
plasma membrane 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for TCTN1 Gene

Pathways & Interactions for TCTN1 Gene

genes like me logo Genes that share pathways with TCTN1: view

Interacting Proteins for TCTN1 Gene

Gene Ontology (GO) - Biological Process for TCTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0021523 somatic motor neuron differentiation IEA --
GO:0021956 central nervous system interneuron axonogenesis IEA --
GO:0060271 cilium morphogenesis IEA,ISS --
genes like me logo Genes that share ontologies with TCTN1: view

No data available for SIGNOR curated interactions for TCTN1 Gene

Drugs & Compounds for TCTN1 Gene

No Compound Related Data Available

Transcripts for TCTN1 Gene

Unigene Clusters for TCTN1 Gene

Tectonic family member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TCTN1 Gene

No ASD Table

Relevant External Links for TCTN1 Gene

GeneLoc Exon Structure for
TCTN1
ECgene alternative splicing isoforms for
TCTN1

Expression for TCTN1 Gene

mRNA expression in normal human tissues for TCTN1 Gene

Protein differential expression in normal tissues from HIPED for TCTN1 Gene

This gene is overexpressed in Urine (59.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TCTN1 Gene



SOURCE GeneReport for Unigene cluster for TCTN1 Gene Hs.211511

genes like me logo Genes that share expression patterns with TCTN1: view

Protein tissue co-expression partners for TCTN1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TCTN1 Gene

Orthologs for TCTN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TCTN1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TCTN1 35
  • 85.36 (n)
  • 80.34 (a)
TCTN1 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TCTN1 35
  • 85.72 (n)
  • 81.15 (a)
TCTN1 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tctn1 35
  • 75.34 (n)
  • 71.88 (a)
Tctn1 16
Tctn1 36
  • 69 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TCTN1 35
  • 99.43 (n)
  • 99.15 (a)
TCTN1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tctn1 35
  • 74.58 (n)
  • 71.53 (a)
oppossum
(Monodelphis domestica)
Mammalia TCTN1 36
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TCTN1 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves TCTN1 35
  • 65.04 (n)
  • 60.15 (a)
lizard
(Anolis carolinensis)
Reptilia TCTN1 36
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tctn1 35
  • 58.03 (n)
  • 48.37 (a)
zebrafish
(Danio rerio)
Actinopterygii tctn1 35
  • 52.74 (n)
  • 42.24 (a)
tctn1 36
  • 41 (a)
OneToOne
Species with no ortholog for TCTN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TCTN1 Gene

ENSEMBL:
Gene Tree for TCTN1 (if available)
TreeFam:
Gene Tree for TCTN1 (if available)

Paralogs for TCTN1 Gene

Paralogs for TCTN1 Gene

genes like me logo Genes that share paralogs with TCTN1: view

Variants for TCTN1 Gene

Sequence variations from dbSNP and Humsavar for TCTN1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs2055466 -- 110,648,075(-) tggat(C/T)gcttg intron-variant
rs10849902 -- 110,646,879(+) AACAG(A/G)TAGAT intron-variant
rs7299966 -- 110,631,492(+) agctg(C/G)gcgtg intron-variant
rs496171 -- 110,620,851(+) tctgt(C/T)gccca intron-variant
rs12814532 -- 110,622,677(+) cagaa(A/G)agggg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TCTN1 Gene

Variant ID Type Subtype PubMed ID
nsv885 CNV Insertion 18451855

Variation tolerance for TCTN1 Gene

Residual Variation Intolerance Score: 59.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.90; 48.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TCTN1 Gene

HapMap Linkage Disequilibrium report
TCTN1
Human Gene Mutation Database (HGMD)
TCTN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCTN1 Gene

Disorders for TCTN1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TCTN1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
joubert syndrome 13
  • jbts13
tctn1-related joubert syndrome
  • joubert syndrome 13
joubert syndrome 1
  • joubert syndrome
joubert syndrome and related disorders
  • jsrd
meckel syndrome 1
  • meckel syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TCTN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TECT1_HUMAN
  • Joubert syndrome 13 (JBTS13) [MIM:614173]: 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. {ECO:0000269 PubMed:21725307}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TCTN1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TCTN1
genes like me logo Genes that share disorders with TCTN1: view

No data available for Genatlas for TCTN1 Gene

Publications for TCTN1 Gene

  1. Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition. (PMID: 16357211) Reiter J.F. … Skarnes W.C. (Genes Dev. 2006) 2 3 4 67
  2. Lentivirus-Mediated Knockdown of TCTN1 Inhibits Glioma Cell Proliferation. (PMID: 25737023) Li J. … Pan Y. (Appl. Biochem. Biotechnol. 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Tectonic 1 accelerates gastric cancer cell proliferation and cell cycle progression in vitro. (PMID: 26252641) Wang X. … Yu P. (Mol Med Rep 2015) 3
  5. Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling. (PMID: 26540106) Yee L.E. … Reiter J.F. (PLoS Genet. 2015) 3

Products for TCTN1 Gene

Sources for TCTN1 Gene

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