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; 1 chicken

Protein SuperFamily: phosphoprotein P/V, Paramyxovirinae type
Gene Tree: Tcof1

Human homologs

Human Homolog		TCOF1, Treacher Collins-Franceschetti syndrome 1
NCBI Gene ID		6949
neXtProt AC		NX_Q13428
Human Synonyms		MFD1, TCS1, treacle
Human Chr (Location)		5q32; chr5:149737202-149779871 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human TCOF1

Alleles and phenotypes

All alleles(117) : Targeted(3) Gene trapped(114)
 

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 Using Mouse Tcof1 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (5 annotations)

Process	transcription of nuclear large rRNA transcript from RNA polymerase I promoter, transport
Component	cytoplasm, nucleolus, ...

External Resources: FuncBase

Expression

Literature Summary: (5 records)
Data Summary: Results (71)    Tissues (20)    Images (24)
Theiler Stages: 10, 17, 18, 23, 25, 28

Assay Type	Results
RNA in situ	55
Northern blot	12
RT-PCR	2
RNase protection	2

cDNA source data(161)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(165) cDNA(162) 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	2215
DFCI	TC1575418, TC1592088, TC1597124, TC1613672, TC1659943
DoTS	DT.87052635, DT.101401082, DT.101737756, DT.94130332, DT.97391749
NIA Mouse Gene Index	U038463
Consensus CDS Project	CCDS37836.1, CCDS57125.1
International Mouse Knockout Project Status	Tcof1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000039736	VEGA Gene Model | MGI Sequence Detail	35217	C57BL/6J
transcript	OTTMUST00000103318	VEGA | MGI Sequence Detail	4595	Not Applicable
polypeptide	OTTMUSP00000057695	VEGA | MGI Sequence Detail	1356	Not Applicable

All sequences(66) RefSeq(4) UniProt(10)

Polymorphisms

RFLP(2) : SNPs(209 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:193269 Barlow AJ, et al., Tcof1 acts as a modifier of Pax3 during enteric nervous system development and in the pathogenesis of colonic aganglionosis. Hum Mol Genet. 2013 Mar 15;22(6):1206-17
All references(51)

Other accession IDs

MGI:2147170, MGI:2147355