Williams-Beuren syndrome chromosomal region 11 protein; general transcription factor II-I repeat domain-containing protein 1; GTF2I repeat domain-containing protein 1; general transcription factor III; musTRD1/BEN; muscle TFII-I repeat domain-containing protein 1; slow-muscle-fiber enhancer-binding protein; USE B1-binding protein; Williams-Beuren syndrome chromosomal region 12 protein (GTF2IRD1, CREAM1, GTF3, MUSTRD1, RBAP2, WBSCR11, WBSCR12)
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Function
- may be a transcription regulator involved in cell-cycle progression & skeletal muscle differentiation
- may repress GTF2I transcriptional functions, by preventing its nuclear localization, or by inhibiting its transcriptional activation
- may contribute to slow-twitch fiber type specificity during myogenesis & in regenerating muscles
- binds troponin I slow-muscle fiber enhancer (USE B1)
- binds specifically & with high affinity to the EFG sequences derived from the early enhancer of HOXC8
- phosphorylated upon DNA damage, probably by ATM or ATR
- interacts with the retinoblastoma protein (RB1) via its C-terminus
Structure
- N-terminal half may have an activating activity
- belongs to the TFII-I family
- contains 5 GTF2I-like repeats
Compartment
Alternative splicing
named isoforms=3
Expression
- highly expressed in adult skeletal muscle heart, fibroblast, bone & fetal tissues
- expressed at lower levels in all other tissues tested
- highly expressed in developing & regenerating muscles, at the time of myofiber diversification
Pathology
- WBSCR11 locus in the Williams-Beuren syndrome critical region
- haploinsufficiency of WBSCR11 may be the cause of certain cardiovascular & musculoskeletal abnormalities observed in the Williams-Beuren syndrome