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Aliases for TCTN1 Gene

Aliases for TCTN1 Gene

  • Tectonic Family Member 1 2 3
  • TECT1 3 4 6
  • JBTS13 3 6
  • Tectonic-1 3

External Ids for TCTN1 Gene

Summaries for TCTN1 Gene

Entrez Gene Summary for TCTN1 Gene

  • This gene encodes a member of the tectonic family of secreted and transmembrane proteins. The orthologous gene in mouse is required for formation of most ventral cell types. It functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for TCTN1 Gene

TCTN1 (Tectonic Family Member 1) is a Protein Coding gene. Diseases associated with TCTN1 include joubert syndrome 13 and joubert syndrome and related disorders. 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

Genomic Location for TCTN1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TCTN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCTN1 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn36, Asn295, and Asn528

No data available for DME Specific Peptides for TCTN1 Gene

Domains for TCTN1 Gene

Gene Families for TCTN1 Gene

HGNC:
  • TCTN :Tectonic proteins

Protein Domains for TCTN1 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

TECT1_HUMAN
Family:
  • Belongs to the tectonic family.:
    • Q2MV58
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).

Gene Ontology (GO) - Molecular Function for TCTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with TCTN1: view
genes like me logo Genes that share phenotypes with TCTN1: view

miRNA for TCTN1 Gene

miRTarBase miRNAs that target TCTN1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
extracellular 3
cytoskeleton 2
lysosome 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TCTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TCTN1: view

Pathways for TCTN1 Gene

SuperPathways for TCTN1 Gene

No Data Available

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:0001841 neural tube formation IEA --
GO:0006996 organelle organization TAS --
GO:0008589 regulation of smoothened signaling pathway IEA --
GO:0021523 somatic motor neuron differentiation IEA --
genes like me logo Genes that share ontologies with TCTN1: view

No data available for Pathways by source for TCTN1 Gene

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

Integrated Proteomics: protein expression 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 expressions with TCTN1: view

Orthologs for TCTN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TCTN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TCTN1 36
  • 99.43 (n)
  • 99.15 (a)
TCTN1 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TCTN1 36
  • 85.36 (n)
  • 80.34 (a)
TCTN1 37
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TCTN1 36
  • 85.72 (n)
  • 81.15 (a)
TCTN1 37
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tctn1 36
  • 75.34 (n)
  • 71.88 (a)
Tctn1 16
Tctn1 37
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TCTN1 37
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TCTN1 37
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tctn1 36
  • 74.58 (n)
  • 71.53 (a)
chicken
(Gallus gallus)
Aves TCTN1 36
  • 65.04 (n)
  • 60.15 (a)
lizard
(Anolis carolinensis)
Reptilia TCTN1 37
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tctn1 36
  • 58.03 (n)
  • 48.37 (a)
zebrafish
(Danio rerio)
Actinopterygii tctn1 36
  • 52.74 (n)
  • 42.24 (a)
tctn1 37
  • 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 MAF
rs496171 -- 110,620,851(+) tctgt(C/T)gccca intron-variant
rs682436 -- 110,620,829(+) ttttt(A/T)tgaga intron-variant
rs682778 -- 110,620,864(+) ctgga(A/G)tgcag intron-variant
rs684596 -- 110,614,660(-) CTGGG(A/T)CCACT intron-variant
rs970228 -- 110,632,364(+) CATCA(C/G)TGTGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv885 CNV Insertion 18451855

Relevant External Links for TCTN1 Gene

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

Disorders for TCTN1 Gene

(1) OMIM Diseases for TCTN1 Gene (609863)

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.

(1) University of Copenhagen DISEASES for TCTN1 Gene

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

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
  2. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. (PMID: 21725307) Garcia-Gonzalo F.R. … Reiter J.F. (Nat. Genet. 2011) 3 4
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for TCTN1 Gene

Sources for TCTN1 Gene

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