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)

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: nucleus 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

General

nuclear protein phosphoprotein

Properties

SIZE: entity length = 959 aa MW = 106 kD COMPARTMENT: cell nucleus MOTIF: GTF2I-like {119-213} GTF2I-like {342-436} Ser phosphorylation site {S448} GTF2I-like {556-650} Ser phosphorylation site {S654} GTF2I-like {696-790} GTF2I-like {793-887} nuclear translocation signal {898-905} serine-rich region {906-930} MOTIF: serine residue (SEVERAL)

Database Correlations

OMIM 604318 UniProt Q9UHL9 Pfam PF02946 Entrez Gene 9569 Kegg hsa:9569

References

UniProt :accession Q9UHL9