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Treacle protein information


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
Ensembl
UniProt
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[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Treacle protein is a protein that studies suggest is involved in the production of a molecule called ribosomal RNA (rRNA) within cells. Treacle is active in the nucleolus, which is a small region inside the nucleus where rRNA is produced. As a major component of cell structures called ribosomes, rRNA is essential for the assembly of proteins. This protein is active during early embryonic development in structures that become bones and other tissues in the face. Although the precise function of this protein is unknown, researchers believe that it plays a critical role in the development of facial bones and related structures.

In humans, the treacle protein is encoded by the TCOF1 (treacle ribosome biogenesis factor 1) gene.[5][6] TCOF1 encodes nucleolar proteins with an LIS1 homology domain.[7] 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.[6]

Aside from its interaction with UBF, treacle has been implicated in the methylation of the precursor to mature ribosomal RNA by interaction with the nucleolar protein pNop56.[8]

The TCOF1 gene is located on the long (q) arm of chromosome 5 between positions 32 and 33.1, from base pair 149,717,427 to base pair 149,760,047.

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000070814 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024613 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Jabs EW, Li X, Coss CA, Taylor EW, Meyers DA, Weber JL (Feb 1992). "Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3". Genomics. 11 (1): 193–8. doi:10.1016/0888-7543(91)90118-X. PMID 1765376.
  6. ^ a b "Entrez Gene: TCOF1 Treacher Collins-Franceschetti syndrome 1".
  7. ^ Valdez BC, Henning D, So RB, Dixon J, Dixon MJ (2004). "The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor". Proc. Natl. Acad. Sci. U.S.A. 101 (29): 10709–14. Bibcode:2004PNAS..10110709V. doi:10.1073/pnas.0402492101. PMC 489999. PMID 15249688.
  8. ^ Gonzales B, Henning D, So RB, Dixon J, Dixon MJ, Valdez BC (2005). "The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation". Hum Mol Genet. 14 (14): 2035–43. doi:10.1093/hmg/ddi208. PMID 15930015.

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