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    Tcof1 treacle ribosome biogenesis factor 1 [ Mus musculus (house mouse) ]

    Gene ID: 21453, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Tcof1provided by MGI
    Official Full Name
    treacle ribosome biogenesis factor 1provided by MGI
    Primary source
    MGI:MGI:892003
    See related
    Ensembl:ENSMUSG00000024613 AllianceGenome:MGI:892003
    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
    treacle
    Summary
    Predicted to enable protein heterodimerization activity and scaffold protein binding activity. Acts upstream of or within nucleolar large rRNA transcription by RNA polymerase I. Predicted to be located in cytosol; fibrillar center; and nucleoplasm. Predicted to be active in nucleolus. Is expressed in several structures, including appendicular skeleton; branchial arch; facial prominence; genitourinary system; and neural ectoderm. Used to study Treacher Collins syndrome. Human ortholog(s) of this gene implicated in Treacher Collins syndrome and Treacher Collins syndrome 1. Orthologous to human TCOF1 (treacle ribosome biogenesis factor 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thymus adult (RPKM 18.2), spleen adult (RPKM 10.0) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tcof1 in Genome Data Viewer
    Location:
    18 E1; 18 34.41 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (60946827..60982055, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (60813738..60848983, complement)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene 40S ribosomal protein S16 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E2509 Neighboring gene STARR-positive B cell enhancer ABC_E1960 Neighboring gene STARR-positive B cell enhancer ABC_E2510 Neighboring gene STARR-positive B cell enhancer ABC_E8719 Neighboring gene CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated) Neighboring gene microRNA 5107 Neighboring gene STARR-seq mESC enhancer starr_44732 Neighboring gene STARR-positive B cell enhancer ABC_E3230 Neighboring gene predicted gene, 41744 Neighboring gene CapStarr-seq enhancer MGSCv37_chr18:61036982-61037190 Neighboring gene CapStarr-seq enhancer MGSCv37_chr18:61044121-61044304 Neighboring gene predicted gene, 41745

    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
    • 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. Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region. Jabs EW, et al. Genomics, 1993 Oct. PMID 8276417
    2. Regulation of the mouse Treacher Collins syndrome homolog (Tcof1) promoter through differential repression of constitutive expression. Shows KH, et al. DNA Cell Biol, 2008 Nov. PMID 18771418, Free PMC Article
    3. Enteric nervous system development: migration, differentiation, and disease. Lake JI, et al. Am J Physiol Gastrointest Liver Physiol, 2013 Jul 1. PMID 23639815, Free PMC Article
    4. Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastoma. Mogass M, et al. Biochem Biophys Res Commun, 2004 Dec 3. PMID 15522210
    5. Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation. Sakai D, et al. Nat Commun, 2016 Jan 21. PMID 26792133, Free PMC Article

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Apoptotic metabolites ameliorate bone aging phenotypes via TCOF1/FLVCR1-mediated mitochondrial homeostasis.
      Title: Apoptotic metabolites ameliorate bone aging phenotypes via TCOF1/FLVCR1-mediated mitochondrial homeostasis.
    2. Tcof1 haploinsufficiency promotes early T cell precursor-like leukemia in Nras(Q61R/+) mice.
      Title: Tcof1 haploinsufficiency promotes early T cell precursor-like leukemia in Nras(Q61R/+) mice.
    3. Role of Tcof1 in normal embryonic development, the correlation between genetic and environmental factors on the severity of craniofacial abnormalities, and the prospect for prenatal prevention of craniofacial anomalies. [review]
      Title: Face off against ROS: Tcof1/Treacle safeguards neuroepithelial cells and progenitor neural crest cells from oxidative stress during craniofacial development.
    4. Tcof1 acts as a modifier of Pax3 during enteric nervous system development.
      Title: Tcof1 acts as a modifier of Pax3 during enteric nervous system development and in the pathogenesis of colonic aganglionosis.
    5. identified Tcof1 as an important regulator of vagal neural crest cells (NCC) development and enteric nervous system formation; Tcof1 loss-of-function results in a deficiency of vagal NCC and their delayed colonization of the gut during early embryogenesis, which mimics the early stages of Hirschsprung's disease
      Title: Balancing neural crest cell intrinsic processes with those of the microenvironment in Tcof1 haploinsufficient mice enables complete enteric nervous system formation.
    6. our research has therefore identified Treacle and as novel in vivo regulators of spindle fidelity, mitotic progression, and proliferation in the maintenance and localization of neural progenitor cells.
      Title: Mammalian neurogenesis requires Treacle-Plk1 for precise control of spindle orientation, mitotic progression, and maintenance of neural progenitor cells.
    7. Loss-of-function mutation in Tcof1 results in defects in middle ear postnatal development and conductive hearing loss.
      Title: Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse.
    8. It has been hypothesized that mutations in Tcof1 disrupt ribosome biogenesis to a degree that is insufficient to meet the proliferative needs of the neuroepithelium and neural crest cells.
      Title: Treacher Collins syndrome: unmasking the role of Tcof1/treacle.
    9. A minimal promoter fragment from -253 to +43 bp directs constitutive expression in both cell types, and dual regulation of Tcof1 appears to be through differential repression of this minimal promoter.
      Title: Regulation of the mouse Treacher Collins syndrome homolog (Tcof1) promoter through differential repression of constitutive expression.
    10. Analysis of RNA isolated from wild-type and Tcof1+/- heterozygous mice embryos from strains that exhibit a lethal phenotype showed significant reduction in 2'-O-methylation at nucleotide C463 of 18S rRNA
      Title: The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (4)  1 citation

    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 heterodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables scaffold protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables scaffold protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in neural crest cell development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in neural crest cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neural crest formation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in neural crest formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in nucleolar large rRNA transcription by RNA polymerase I IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within nucleolar large rRNA transcription by RNA polymerase I IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of translation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of translation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in fibrillar center ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    treacle protein
    Names
    Treacher Collins Franceschetti syndrome 1, homolog
    treacher Collins syndrome protein homolog

    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_001198984.1 → NP_001185913.1  treacle protein isoform 1

      See identical proteins and their annotated locations for NP_001185913.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC139759, BC057342
      Consensus CDS
      CCDS57125.1
      UniProtKB/TrEMBL
      H3BL37, Q7TPZ2
      Related
      ENSMUSP00000135639.2, ENSMUST00000175934.8
      Conserved Domains (2) summary
      smart00667
      Location:6 → 37
      LisH; Lissencephaly type-1-like homology motif
      pfam03546
      Location:321 → 792
      Treacle; Treacher Collins syndrome protein Treacle

    2. NM_011552.3 → NP_035682.1  treacle protein isoform 2

      See identical proteins and their annotated locations for NP_035682.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame alternate exon in the 3' coding region, compared to variant 1, and encodes a shorter isoform (2), compared to isoform 1.
      Source sequence(s)
      AC139759, BC057342
      Consensus CDS
      CCDS37836.1
      UniProtKB/Swiss-Prot
      O08784, O08857
      UniProtKB/TrEMBL
      Q7TPZ2
      Related
      ENSMUSP00000135476.2, ENSMUST00000176630.8
      Conserved Domains (2) summary
      smart00667
      Location:6 → 37
      LisH; Lissencephaly type-1-like homology motif
      pfam03546
      Location:321 → 792
      Treacle; Treacher Collins syndrome protein Treacle

    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_000084.7 Reference GRCm39 C57BL/6J

      Range
      60946827..60982055 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011246875.3 → XP_011245177.1  treacle protein isoform X3

      UniProtKB/TrEMBL
      Q05BH6
      Related
      ENSMUSP00000134755.2, ENSMUST00000177172.8
      Conserved Domains (3) summary
      smart00667
      Location:6 → 37
      LisH; Lissencephaly type-1-like homology motif
      PHA03247
      Location:630 → 1063
      PHA03247; large tegument protein UL36; Provisional
      pfam03546
      Location:321 → 744
      Treacle; Treacher Collins syndrome protein Treacle

    2. XM_011246874.3 → XP_011245176.1  treacle protein isoform X2

      UniProtKB/TrEMBL
      Q7TPZ2
      Conserved Domains (3) summary
      smart00667
      Location:6 → 37
      LisH; Lissencephaly type-1-like homology motif
      PHA03247
      Location:630 → 1099
      PHA03247; large tegument protein UL36; Provisional
      pfam03546
      Location:321 → 744
      Treacle; Treacher Collins syndrome protein Treacle

    3. XM_006525777.3 → XP_006525840.1  treacle protein isoform X1

      UniProtKB/TrEMBL
      Q7TPZ2
      Conserved Domains (3) summary
      smart00667
      Location:6 → 37
      LisH; Lissencephaly type-1-like homology motif
      PHA03247
      Location:678 → 1147
      PHA03247; large tegument protein UL36; Provisional
      pfam03546
      Location:321 → 792
      Treacle; Treacher Collins syndrome protein Treacle

    RNA

    1. XR_001782353.2 RNA Sequence

    2. XR_385982.4 RNA Sequence

      Related
      ENSMUST00000163446.9
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O08784.1 GenPept UniProtKB/Swiss-Prot:O08784

    Gene LinkOut

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