2d99

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Template:STRUCTURE 2d99

Contents 1 Solution Structure of RSGI RUH-048, a GTF2I domain in human cDNA 2 Disease 3 Function 4 About this Structure 5 Reference

Solution Structure of RSGI RUH-048, a GTF2I domain in human cDNA

Disease

[GT2D1_HUMAN] Note=GTF2IRD1 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of GTF2IRD1 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

Function

[GT2D1_HUMAN] 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).^[1]

About this Structure

2d99 is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.

Reference

1. ↑ Tussie-Luna MI, Bayarsaihan D, Ruddle FH, Roy AL. Repression of TFII-I-dependent transcription by nuclear exclusion. Proc Natl Acad Sci U S A. 2001 Jul 3;98(14):7789-94. PMID:11438732 doi:10.1073/pnas.141222298