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2dzq
From Proteopedia
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{{STRUCTURE_2dzq| PDB=2dzq | SCENE= }} | {{STRUCTURE_2dzq| PDB=2dzq | SCENE= }} | ||
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===Solution Structure of RSGI RUH-066, a GTF2I domain in human cDNA=== | ===Solution Structure of RSGI RUH-066, a GTF2I domain in human cDNA=== | ||
| + | ==Disease== | ||
| + | [[http://www.uniprot.org/uniprot/GT2D1_HUMAN 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. | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/GT2D1_HUMAN 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).<ref>PMID:11438732</ref> | ||
==About this Structure== | ==About this Structure== | ||
[[2dzq]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2DZQ OCA]. | [[2dzq]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2DZQ OCA]. | ||
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| + | ==Reference== | ||
| + | <references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Doi-Katayama, Y.]] | [[Category: Doi-Katayama, Y.]] | ||
Revision as of 11:03, 24 March 2013
Contents |
Solution Structure of RSGI RUH-066, 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
2dzq 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
Categories: Homo sapiens | Doi-Katayama, Y. | Hirota, H. | Kigawa, T. | Koshiba, S. | RSGI, RIKEN Structural Genomics/Proteomics Initiative. | Tomizawa, T. | Yokoyama, S. | National project on protein structural and functional analyse | Nppsfa | Riken structural genomics/proteomics initiative | Rsgi ruh-066 | Structural genomic | Transcription | Transcription factor
