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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
  • Gene Overview
    MyGene.info: TCOF1
Location & Maps
more
  • Sequence Map
    Chr18:60813755-60848971 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      35217 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 34.41 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    TCOF1, treacle ribosome biogenesis factor 1
  • Vertebrate Orthologs
    7
  • Human Ortholog
    TCOF1, treacle ribosome biogenesis factor 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    MFD1, TCS, TCS1, treacle
  • Links
    NCBI Gene ID: 6949
    neXtProt AC: NX_Q13428

  • Chr Location
    5q32; chr5:150357639-150400308 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Tcof1 mouse models; 1 with human TCOF1 associations

Human Disease Mouse Models
       Treacher Collins Syndrome 1; TCS1   OMIM: 154500 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    79 phenotypes from 1 allele in 2 genetic backgrounds
    1 images
    18 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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000039736 VEGA Gene Model | MGI Sequence Detail 35217 C57BL/6J ±  kb
transcript OTTMUST00000103318 VEGA | MGI Sequence Detail 4595 Not Applicable  
polypeptide OTTMUSP00000057695 VEGA | MGI Sequence Detail 1356 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    322 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    10 Sequences
  • Protein Ontology
    PR:000016198 treacle protein
  • InterPro Domains
    IPR006594 LIS1 homology motif
    IPR003993 Treacher Collins syndrome, treacle
    IPR017859 Treacle-like, Treacher Collins Syndrome
Molecular
Reagents
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  • All nucleic 140
    cDNA 137
    Primer pair 2
    Other 1

    Microarray probesets 5
Other
Accession IDs
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MGI:2147170, MGI:2147355
References
more
  • Summaries
    All 48
    Developmental Gene Expression 6
    Diseases 4
    Gene Ontology 4
    Phenotypes 18
  • 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:211289 Fantauzzo KA, et al., PI3K-mediated PDGFRalpha signaling regulates survival and proliferation in skeletal development through p53-dependent intracellular pathways. Genes Dev. 2014 May 1;28(9):1005-17

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory