2d99 | pdb_00002d99
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
- ↑ 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
Proteopedia Page Contributors and Editors (what is this?)
- Homo sapiens
- Doi-Katayama, Y.
- Hirota, H.
- Kigawa, T.
- Koshiba, S.
- RSGI, RIKEN Structural Genomics/Proteomics Initiative.
- Tochio, N.
- Yokoyama, S.
- National project on protein structural and functional analyse
- Nppsfa
- Riken structural genomics/proteomics initiative
- Rsgi
- Structural genomic
- Transcription
- Transcription factor
