Tbio GTF2IRD1 General transcription factor II-I repeat domain-containing protein 1

Protein Summary

Description

May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8 (By similarity). The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

Uniprot Accession IDs

• Q9UHL9
• O95444
• Q6DSU6
• Q75MX7
• Q86UM3
• Q8WVC4
• Q9UHK8
• Q9UI91
• GTF2I repeat domain-containing protein 1

Gene Name

• GTF2IRD1

Ensembl ID

• ENST00000265755
• ENSP00000265755
• ENSG00000006704
• ENST00000424337
• ENSP00000408477
• ENST00000455841
• ENSP00000397566

Symbol

• CREAM1
• GTF3
• MUSTRD1
• RBAP2
• WBSCR11
• WBSCR12
• BEN
• WBS
• GTF3
• RBAP2
• CREAM1
• MUSTRD1
• WBSCR11
• WBSCR12
• hMusTRD1alpha1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
virus perturbation	0.99
disease perturbation	0.87
protein complex	0.78
histone modification site profile	0.76
transcription factor	0.72

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: 76.83   (req: < 5)

Gene RIFs: 21   (req: <= 3)

Antibodies: 347   (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: 76.83   (req: >= 5)

Gene RIFs: 21   (req: > 3)

Antibodies: 347   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7

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