Version 5.4
Homo sapiens Gene: TCOF1
Summary
InnateDB Gene IDBG-53504.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TCOF1
Gene Name Treacher Collins-Franceschetti syndrome 1
Synonyms MFD1; TCS; TCS1; treacle
Species Homo sapiens
Ensembl Gene ENSG00000070814
Encoded Proteins
IDBP-53506
Treacher Collins-Franceschetti syndrome 1
IDBP-53508
Treacher Collins-Franceschetti syndrome 1
IDBP-241896
Treacher Collins-Franceschetti syndrome 1
IDBP-380201
Treacher Collins-Franceschetti syndrome 1
IDBP-380203
Treacher Collins-Franceschetti syndrome 1
IDBP-380206
Treacher Collins-Franceschetti syndrome 1
IDBP-476429
Treacher Collins-Franceschetti syndrome 1
IDBP-482619
Treacher Collins-Franceschetti syndrome 1
IDBP-484756
Treacher Collins-Franceschetti syndrome 1
IDBP-484292
Treacher Collins-Franceschetti syndrome 1
IDBP-483484
Treacher Collins-Franceschetti syndrome 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:150357639-150400308
Strand Forward strand
Band q32
Transcripts
ENST00000377797 ENSP00000367028
ENST00000323668 ENSP00000325223
ENST00000394269 ENSP00000377811
ENST00000445265 ENSP00000409944
ENST00000439160 ENSP00000406888
ENST00000427724 ENSP00000390717
ENST00000504761 ENSP00000421655
ENST00000513346 ENSP00000427484
ENST00000515516 ENSP00000426471
ENST00000515035
ENST00000514442
ENST00000506063
ENST00000506767 ENSP00000426587
ENST00000513538 ENSP00000422567
ENST00000506630
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 47 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 47 [view]
Protein-Protein 46 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005215 transporter activity
GO:0005515 protein binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0001501 skeletal system development
GO:0006810 transport
GO:0042790 transcription of nuclear large rRNA transcript from RNA polymerase I promoter
Cellular Component
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000024613
View Gene Order
ENSBTAG00000015224
Not yet available
Cross-References
SwissProt Q13428
TrEMBL E7ETY2 H0YA99 J3KQ96 Q9UFD4
UniProt Splice Variant
Entrez Gene 6949
UniGene Hs.519672
RefSeq NM_000356 NM_001008657 NM_001135243 NM_001135244 NM_001135245 NM_001195141 XM_005268505 XM_005268506
HUGO HGNC:11654
OMIM 606847
CCDS CCDS4306 CCDS47305 CCDS47306 CCDS47307 CCDS54936
HPRD
IMGT
EMBL AC011372 AK303611 AL133039 AY460334 BC011764 BC014559 BC016144 BC027252 BC033093 U40847 U76366 U79645 U79646 U79647 U79648 U79649 U79650 U79651 U79652 U79653 U79654 U79655 U79656 U79657 U79658 U79659 U84640 U84641 U84642 U84643 U84644 U84645 U84646 U84647 U84648 U84649 U84650 U84651 U84652 U84653 U84654 U84655 U84656 U84657 U84658 U84659 U84660 U84661 U84662 U84663 U84664
GenPept AAB40722 AAC50903 AAC51181 AAC51185 AAH11764 AAH14559 AAH16144 AAH27252 AAH33093 AAR87774 BAG64623 CAB61367
RNA Seq Atlas 6949

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca