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

Summary

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

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_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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

RH124778 (e-PCR)
- UniSTS:161600

U81030 (e-PCR)
- UniSTS:181127

AW209012 (e-PCR)
- UniSTS:181128

Tcof1 (e-PCR), detects polymorphism
- UniSTS:144573

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)

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
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

NC_000084.7 Reference GRCm39 C57BL/6J

Range

60946827..60982055 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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