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Aliases for TCTN1 Gene

Aliases for TCTN1 Gene

  • Tectonic Family Member 1 2 3 5
  • TECT1 3 4
  • Tectonic-1 3
  • 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 Joubert Syndrome 1. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. 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).

Additional gene information for TCTN1 Gene

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

Genomics for TCTN1 Gene

GeneHancer (GH) Regulatory Elements for TCTN1 Gene

Promoters and enhancers for TCTN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I110613 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.2 239 2.1 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B CBX5 TCTN1 GLTP RN7SL387P
GH12I110686 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 16.2 +75.1 75101 5.4 HDGF PKNOX1 ZNF335 TCF12 GLIS2 EGR1 SCRT2 RUNX3 EGR2 SMARCA5 HVCN1 TCTN1 FAM216A GLTP RN7SL387P
GH12I110739 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 11 +128.8 128762 6.2 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ENSG00000279925 PPP1CC ATXN2 IFT81 TCTN1 FAM216A GC12P110720
GH12I110123 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11 -489.4 -489436 1.7 ARID4B SIN3A DMAP1 YY1 E2F8 KLF13 SP3 SP5 MXD4 REST IFT81 ARPC3 C12orf76 UBE3B TCTN1 FAM216A GC12P110223
GH12I110589 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.6 -22.8 -22826 3.4 PKNOX1 FOXA2 ARID4B DMAP1 YY1 ZNF121 ATF7 RXRA SP5 REST ARPC3 TCTN1 PPTC7 FAM216A HVCN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TCTN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TCTN1 gene promoter:

Genomic Locations for TCTN1 Gene

Genomic Locations for TCTN1 Gene
chr12:110,614,027-110,649,430
(GRCh38/hg38)
Size:
35,404 bases
Orientation:
Plus strand
chr12:111,051,832-111,087,235
(GRCh37/hg19)

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

Post-translational modifications for TCTN1 Gene

  • Glycosylation at isoforms=2, 336, isoforms=2, 3, 4, 5, 6295, and isoforms=2, 3, 4, 5528

No data available for DME Specific Peptides for TCTN1 Gene

Domains & Families for TCTN1 Gene

Gene Families for TCTN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

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).

Phenotypes From GWAS Catalog for TCTN1 Gene

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

CRISPR Products

miRNA for TCTN1 Gene

miRTarBase miRNAs that target TCTN1

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TCTN1 gene
Compartment Confidence
extracellular 4
cytoskeleton 4
cytosol 4
nucleus 2
plasma membrane 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TCTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with TCTN1: view

Pathways & Interactions for TCTN1 Gene

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

Pathways by source 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:0007275 multicellular organism development IEA --
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 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:

CRISPR Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TCTN1 Gene



Protein tissue co-expression partners for TCTN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TCTN1 Gene:

TCTN1

SOURCE GeneReport for Unigene cluster for TCTN1 Gene:

Hs.211511

Evidence on tissue expression from TISSUES for TCTN1 Gene

  • Intestine(4.2)
  • Muscle(4.2)
  • Pancreas(4.2)
  • Nervous system(3.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TCTN1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
Thorax:
  • diaphragm
  • heart
  • lung
Abdomen:
  • biliary tract
  • kidney
  • liver
Pelvis:
  • penis
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with TCTN1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia TCTN1 33 34
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia TCTN1 33 34
  • 85.72 (n)
cow
(Bos Taurus)
Mammalia TCTN1 33 34
  • 85.36 (n)
mouse
(Mus musculus)
Mammalia Tctn1 33 16 34
  • 75.34 (n)
rat
(Rattus norvegicus)
Mammalia Tctn1 33
  • 74.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TCTN1 34
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TCTN1 34
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves TCTN1 33
  • 65.04 (n)
lizard
(Anolis carolinensis)
Reptilia TCTN1 34
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tctn1 33
  • 58.03 (n)
zebrafish
(Danio rerio)
Actinopterygii tctn1 33 34
  • 52.74 (n)
Species where no ortholog for TCTN1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1016934113 uncertain-significance, Joubert syndrome, Meckel-Gruber syndrome 110,647,223(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs10577377 benign, likely-benign, not specified, not provided, Joubert syndrome, Meckel-Gruber syndrome 110,628,758(+) AAAAAA/AAA/AAAA/AAAAAAA intron_variant
rs117896500 uncertain-significance, benign, not specified, Joubert syndrome, Meckel-Gruber syndrome 110,628,782(+) C/A 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs118096349 conflicting-interpretations-of-pathogenicity, benign, likely-benign, not specified, Joubert syndrome, Meckel-Gruber syndrome 110,645,031(+) G/A/T coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs12307716 conflicting-interpretations-of-pathogenicity, likely-benign, benign, not specified, Joubert syndrome, Meckel-Gruber syndrome 110,628,757(+) T/A intron_variant

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

Variant ID Type Subtype PubMed ID
nsv1122763 CNV deletion 24896259
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)

Additional Variant Information for TCTN1 Gene

Human Gene Mutation Database (HGMD)
TCTN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TCTN1

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

Disorders for TCTN1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for TCTN1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for 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 JF … Skarnes WC (Genes & development 2006) 2 3 4 58
  2. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. (PMID: 21725307) Garcia-Gonzalo FR … Reiter JF (Nature genetics 2011) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58

Products for TCTN1 Gene

Sources for TCTN1 Gene

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