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    Tctn1 tectonic family member 1 [ Mus musculus (house mouse) ]

    Gene ID: 654470, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Tctn1provided by MGI
    Official Full Name
    tectonic family member 1provided by MGI
    Primary source
    MGI:MGI:3603820
    See related
    Ensembl:ENSMUSG00000038593 AllianceGenome:MGI:3603820
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Tect1; 4930565B19Rik; G730031O11Rik
    Summary
    Involved in cilium assembly and protein localization to ciliary transition zone. Acts upstream of or within in utero embryonic development; nervous system development; and regulation of smoothened signaling pathway. Located in ciliary transition zone; extracellular space; and membrane. Part of MKS complex. Is expressed in several structures, including gut epithelium; neural tube; node; notochord; and somite. Human ortholog(s) of this gene implicated in Joubert syndrome 13. Orthologous to human TCTN1 (tectonic family member 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen adult (RPKM 47.2), mammary gland adult (RPKM 23.7) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tctn1 in Genome Data Viewer
    Location:
    5; 5 F
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (122377558..122402557, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (122239495..122264489, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_14271 Neighboring gene myosin, light polypeptide 2, regulatory, cardiac, slow Neighboring gene coiled-coil domain containing 63 Neighboring gene STARR-positive B cell enhancer ABC_E3613 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:122595403-122595586 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:122595588-122595697 Neighboring gene protein phosphatase 1 catalytic subunit gamma Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:122634438-122634667 Neighboring gene STARR-seq mESC enhancer starr_14277 Neighboring gene STARR-positive B cell enhancer ABC_E9650 Neighboring gene hydrogen voltage-gated channel 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:122685188-122685492 Neighboring gene STARR-positive B cell enhancer ABC_E6375 Neighboring gene STARR-positive B cell enhancer ABC_E10345 Neighboring gene RIKEN cDNA 1700112N08 gene Neighboring gene STARR-seq mESC enhancer starr_14278 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:122738438-122738621 Neighboring gene PTC7 protein phosphatase homolog Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:122760748-122760949 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:122761679-122761976 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:122767369-122767570 Neighboring gene RAD9 checkpoint clamp component B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Phosphoinositides Regulate Ciliary Protein Trafficking to Modulate Hedgehog Signaling. Garcia-Gonzalo FR, et al. Dev Cell, 2015 Aug 24. PMID 26305592, Free PMC Article
    2. Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling. Yee LE, et al. PLoS Genet, 2015 Nov. PMID 26540106, Free PMC Article
    3. Three Tctn proteins are functionally conserved in the regulation of neural tube patterning and Gli3 processing but not ciliogenesis and Hedgehog signaling in the mouse. Wang C, et al. Dev Biol, 2017 Oct 1. PMID 28800946, Free PMC Article
    4. Loss of Tctn3 causes neuronal apoptosis and neural tube defects in mice. Wang B, et al. Cell Death Dis, 2018 May 1. PMID 29725084, Free PMC Article
    5. Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition. Reiter JF, et al. Genes Dev, 2006 Jan 1. PMID 16357211, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. These results suggest that Tctn1, Tctn2, and Tctn3 are functionally divergent with respect to their role in ciliogenesis and Hedgehog signaling but conserved in neural tube patterning and Gli3 processing.
      Title: Three Tctn proteins are functionally conserved in the regulation of neural tube patterning and Gli3 processing but not ciliogenesis and Hedgehog signaling in the mouse.
    2. Loss of Tctn1 is associated with ciliopathies.
      Title: A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
    3. During neural tube development, mouse Tectonic is required for formation of the most ventral cell types and for full Hedgehog (Hh) pathway activation. Tectonic plays an additional role in repressing Hh pathway activity.
      Title: Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Gene trapped (2)  1 citation

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within central nervous system interneuron axonogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within dorsal/ventral neural tube patterning IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neural tube formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to ciliary transition zone IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within somatic motor neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within telencephalon development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of MKS complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of MKS complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary transition zone IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    tectonic-1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001039153.3 → NP_001034242.2  tectonic-1 precursor

      See identical proteins and their annotated locations for NP_001034242.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the supported protein.
      Source sequence(s)
      AC127266, AK036568, AK138661, AW121310, CX202489, DQ278867, DV657549
      Consensus CDS
      CCDS39254.1
      UniProtKB/Swiss-Prot
      Q3UMP0, Q8BUE2, Q8BZ64
      Related
      ENSMUSP00000107367.4, ENSMUST00000111738.8
      Conserved Domains (1) summary
      pfam07773
      Location:82 → 395
      DUF1619; Protein of unknown function (DUF1619)

    RNA

    1. NR_104441.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate internal exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC127266, AK036568, AK138661, AW121310, CX202489, DQ278867, DV657549

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      122377558..122402557 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001784734.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BZ64.1 GenPept UniProtKB/Swiss-Prot:Q8BZ64

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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