TCOF1

TCOF1
Identifiers
AliasesTCOF1, MFD1, TCS, TCS1, treacle, treacle ribosome biogenesis factor 1
External IDsOMIM: 606847; MGI: 892003; HomoloGene: 68049; GeneCards: TCOF1; OMA:TCOF1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

6949

21453

Ensembl

ENSG00000070814

ENSMUSG00000024613

UniProt

Q13428

O08784

RefSeq (mRNA)

NM_001198984
NM_011552

RefSeq (protein)

NP_001185913
NP_035682

Location (UCSC)Chr 5: 150.36 – 150.4 MbChr 18: 60.95 – 60.98 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Treacle Ribosome Biogenesis Factor 1 (TCOF1) also known as Treacle is a protein that in humans is encoded by the TCOF1 gene. TCOF1 encodes a nucleolar protein with an LIS1 homology domain. The treacle protein is involved in rRNA 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. Alternate transcriptional splice variants encoding different isoforms have been found for this gene, but only three of them have been characterized to date.