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Tcof1 Gene Detail
Summary
  • Symbol
    Tcof1
  • Name
    treacle ribosome biogenesis factor 1
  • Synonyms
    treacle
  • Feature Type
    protein coding gene
  • IDs
    MGI:892003
    NCBI Gene: 21453
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:60946827-60982043 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 34.41 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1127 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_892003
 protein coding gene Chr18:60946827-60982055 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024469
 protein coding gene Chr18:60649744-60689191 (-)
A/J MGP_AJ_G0024436
 protein coding gene Chr18:58051432-58088721 (-)
AKR/J MGP_AKRJ_G0024406
 protein coding gene Chr18:59647972-59689163 (-)
BALB/cJ MGP_BALBcJ_G0024434
 protein coding gene Chr18:58165031-58213615 (-)
C3H/HeJ MGP_C3HHeJ_G0024203
 protein coding gene Chr18:59882453-59920448 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024882
 protein coding gene Chr18:62306194-62345408 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022313
 protein coding gene Chr18:57597030-57631997 (-)
CAST/EiJ MGP_CASTEiJ_G0023676
 protein coding gene Chr18:59749161-59786533 (-)
CBA/J MGP_CBAJ_G0024173
 protein coding gene Chr18:64313676-64353541 (-)
DBA/2J MGP_DBA2J_G0024303
 protein coding gene Chr18:57727095-57763963 (-)
FVB/NJ MGP_FVBNJ_G0024269
 protein coding gene Chr18:57132257-57167921 (-)
LP/J MGP_LPJ_G0024386
 protein coding gene Chr18:60502724-60543058 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024298
 protein coding gene Chr18:65951088-65988524 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024929
 protein coding gene Chr18:59848482-59885551 (-)
PWK/PhJ MGP_PWKPhJ_G0023419
 protein coding gene Chr18:57951165-57986647 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023225
 protein coding gene Chr18:60084700-60120828 (-)
WSB/EiJ MGP_WSBEiJ_G0023740
 protein coding gene Chr18:59702373-59739442 (-)



Homology
more
  • Human Ortholog
    TCOF1, treacle ribosome biogenesis factor 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TCOF1, treacle ribosome biogenesis factor 1
  • Synonyms
    MFD1, TCS, TCS1, treacle
  • Links
    NCBI Gene ID: 6949
    neXtProt AC: NX_Q13428
    UniProt: Q13428

  • Chr Location
    5q32-q33.1; chr5:150357629-150400308 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Tcof1 mouse models; 2 with human TCOF1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    106 phenotypes from 1 allele in 6 genetic backgrounds
    1 images
    26 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Heterozygotes for a targeted null mutation die perinatally with severe craniofacial malformations including agenesis of the nasal passages, abnormal development of the maxilla, exencephaly, and anophthalmia. Phenotype penetrance varies depending on strain background.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    16
  • GO References
    5
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    814
  • Tissues
    48
  • cDNA Data
    137
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024613 Ensembl Gene Model | MGI Sequence Detail 35217 C57BL/6J ±  kb
    transcript ENSMUST00000175934 Ensembl | MGI Sequence Detail 4595 Not Applicable  
    polypeptide ENSMUSP00000135639 Ensembl | MGI Sequence Detail 1356 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 144
      cDNA 138
      Primer pair 4
      Other 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2147170, MGI:2147355
    References
    more
    • Summaries
      All 59
      Developmental Gene Expression 8
      Diseases 2
      Gene Ontology 5
      Phenotypes 26
    • Earliest
      J:15125 Jabs EW, et al., Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region. Genomics. 1993 Oct;18(1):7-13
    • Latest
      J:340778 Dash S, et al., rRNA transcription is integral to phase separation and maintenance of nucleolar structure. PLoS Genet. 2023 Aug;19(8):e1010854
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory