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Tcof1 treacle ribosome biogenesis factor 1 [ Rattus norvegicus (Norway rat) ]

Gene ID: 291571, updated on 27-Nov-2024

Summary

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Official Symbol
Tcof1provided by RGD
Official Full Name
treacle ribosome biogenesis factor 1provided by RGD
Primary source
RGD:1309850
See related
EnsemblRapid:ENSRNOG00000026108 AllianceGenome:RGD:1309850
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary
Predicted to enable protein heterodimerization activity; protein-macromolecule adaptor activity; and scaffold protein binding activity. Predicted to be involved in mesenchymal cell differentiation; nucleolar large rRNA transcription by RNA polymerase I; and regulation of translation. Predicted to be located in cytosol; fibrillar center; and nucleoplasm. Predicted to be active in nucleolus. 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
Biased expression in Spleen (RPKM 87.7), Thymus (RPKM 81.6) and 9 other tissues See more
Orthologs
human mouse all
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Genomic context

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See Tcof1 in Genome Data Viewer
Location:
18q12.1
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 18 NC_086036.1 (56537437..56570727, complement)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 18 NC_051353.1 (54267015..54300324, complement)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 18 NC_005117.4 (56081863..56115719, complement)

Chromosome 18 - NC_086036.1Genomic Context describing neighboring genes Neighboring gene ribosomal protein S14 Neighboring gene CD74 molecule Neighboring gene uncharacterized LOC102550733 Neighboring gene arylsulfatase family, member I

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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Related articles in PubMed

  1. Stable Acinar Progenitor Cell Model Identifies Treacle-Dependent Radioresistance. Weber TJ, et al. Radiat Res, 2019 Aug. PMID 31141469
  2. Two candidate genes for two quantitative trait loci epistatically attenuate hypertension in a novel pathway. Chauvet C, et al. J Hypertens, 2015 Sep. PMID 26103128
  3. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. Wise CA, et al. Proc Natl Acad Sci U S A, 1997 Apr 1. PMID 9096354, Free PMC Article
  4. The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor. Valdez BC, et al. Proc Natl Acad Sci U S A, 2004 Jul 20. PMID 15249688, Free PMC Article
  5. A non-catalytic role for inositol 1,3,4,5,6-pentakisphosphate 2-kinase in the synthesis of ribosomal RNA. Brehm MA, et al. J Cell Sci, 2013 Jan 15. PMID 23203802, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Acinar Progenitor Cell Model Identifies Treacle-Dependent Radioresistance
    Title: Stable Acinar Progenitor Cell Model Identifies Treacle-Dependent Radioresistance.
  2. The current work has provided the premier evidence that haloacid dehalogenase-like hydrolase domain containing 2/C18QTL4 and Tcof1/C18QTL3 may be involved in polygenic hypertension.
    Title: Two candidate genes for two quantitative trait loci epistatically attenuate hypertension in a novel pathway.
Submit: New GeneRIF Correction

General gene information

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Markers

Homology

Gene Ontology Provided by RGD

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 biological_process ND
No biological Data available
more info
  
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 ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of translation ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in fibrillar center IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
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

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_001395127.1 → NP_001382056.1  treacle protein

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000018
    UniProtKB/TrEMBL
    A0A8I6AJL5
    Related
    ENSRNOP00000045755.6, ENSRNOT00000045041.7
    Conserved Domains (3) summary
    smart00667
    Location:6 → 38
    LisH; Lissencephaly type-1-like homology motif
    PHA03247
    Location:634 → 1071
    PHA03247; large tegument protein UL36; Provisional
    pfam03546
    Location:306 → 790
    Treacle; Treacher Collins syndrome protein Treacle

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

  1. NC_086036.1 Reference GRCr8

    Range
    56537437..56570727 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001106143.1: Suppressed sequence

    Description
    NM_001106143.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein Strain
Heading Accession and Version

Gene LinkOut

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