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Tcof1
Gene Detail
Symbol

Name
ID
Tcof1
Treacher Collins Franceschetti syndrome 1, homolog
MGI:892003
Synonyms
treacle
Feature Type
protein coding gene
Genetic Map
Chromosome 18
34.41 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
Chr18:60813755-60848971 bp, - strand
From VEGA annotation of GRCm38

  35217 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:68049  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog

HCOP human homology predictions: TCOF1
Protein SuperFamily: phosphoprotein P/V, Paramyxovirinae type
Gene Tree: Tcof1

Human
homologs
TCOF1, Treacher Collins-Franceschetti syndrome 1
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 6949
neXtProt AC: NX_Q13428

Human Synonyms: MFD1, TCS, TCS1, treacle

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

Disease Associations: (1) Diseases Associated with Human TCOF1

Mutations,
alleles, and
phenotypes
All mutations/alleles(117) : Gene trapped(114) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled in Mice Using Tcof1 (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(1)
Interactions
Tcof1 interacts with 151 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (6 annotations)
Process transcription of nuclear large rRNA transcript from RNA polymerase I promoter, transport
Component cytoplasm, nucleolus, ...
Function poly(A) RNA binding
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (71)    Tissues (20)    Images (24)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 55
Northern blot 12
RT-PCR 2
RNase protection 2
cDNA source data(136)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase LOC100216130    NEW 
Molecular
reagents
All nucleic(140) cDNA(137) Primer pair(2) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000039736 (Evidence)
Ensembl Gene Model ENSMUSG00000024613 (Evidence)
Entrez Gene 21453 (Evidence)
UniGene 486251
DFCI TC1592088, TC1575418, TC1597124, TC1659943, TC1613672
DoTS DT.97391749, DT.101401082, DT.94130332, DT.87052635, DT.101737756
NIA Mouse Gene Index U038463
Consensus CDS Project CCDS37836.1, CCDS57125.1
International Mouse Phenotyping Consortium Status Tcof1
Sequences
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 sequences
All sequences(75) RefSeq(13) UniProt(10)
Polymorphisms
RFLP(2) : SNPs within 2kb(326 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006594 LisH dimerisation motif
InterPro IPR003993 Treacher Collins syndrome, treacle
InterPro IPR017859 Treacle-like, Treacher Collins Syndrome
Protein Ontology PR:000016198 treacle protein
References
(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
All references(51)
Disease annotation references (4)
Other
accession IDs
MGI:2147170, MGI:2147355

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
05/20/2015
MGI 5.22
The Jackson Laboratory