Tbio TCOF1 Treacle protein

Protein Summary

Description

Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification (PubMed:12777385, PubMed:26399832). Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with NOLC1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832). 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]

Uniprot Accession IDs

• Q13428
• A0JLU0
• B4E111
• Q6SC72
• Q7Z5W9
• Q96A52
• Q99408
• Q99860

Gene Name

• TCOF1

Ensembl ID

• ENST00000323668
• ENSP00000325223
• ENSG00000070814
• ENST00000377797
• ENSP00000367028
• ENST00000394269
• ENSP00000377811
• ENST00000427724
• ENSP00000390717
• ENST00000439160
• ENSP00000406888
• ENST00000445265
• ENSP00000409944
• ENST00000504761
• ENSP00000421655
• ENST00000642994
• ENSP00000494375
• ENST00000643257
• ENSP00000493815

Symbol

• TCS
• MFD1
• TCS1
• treacle

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
drug perturbation	1
disease perturbation	0.96
interacting protein	0.95
co-expressed gene	0.93
transcription factor perturbation	0.91

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 169.86   (req: < 5)

Gene RIFs: 43   (req: <= 3)

Antibodies: 177   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 169.86   (req: >= 5)

Gene RIFs: 43   (req: > 3)

Antibodies: 177   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 9

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0