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

Gene ID: 21453, updated on 14-May-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; protein-macromolecule adaptor 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, Apr 2022]
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. Face off against ROS: Tcof1/Treacle safeguards neuroepithelial cells and progenitor neural crest cells from oxidative stress during craniofacial development. Sakai D, et al. Dev Growth Differ, 2016 Sep. PMID 27481486, Free PMC Article
  2. 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
  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. 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
  5. Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastoma. Mogass M, et al. Biochem Biophys Res Commun, 2004 Dec 3. PMID 15522210

See all (55) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Data show that Tcof1 and treacle synthesis play an important role in the proliferation of neuroblastoma cells.
    Title: Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastoma.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (3) 
  • 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 protein-macromolecule adaptor 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 formation ISO
Inferred from Sequence Orthology
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
  
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
  
located_in nucleus IEA
Inferred from Electronic Annotation
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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