2dn5

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[[Image:2dn5.png|left|200px]]
 
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{{STRUCTURE_2dn5| PDB=2dn5 | SCENE= }}
{{STRUCTURE_2dn5| PDB=2dn5 | SCENE= }}
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===Solution Structure of RSGI RUH-057, a GTF2I domain in human cDNA===
===Solution Structure of RSGI RUH-057, a GTF2I domain in human cDNA===
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==Disease==
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[[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==
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[[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==
[[2dn5]] 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=2DN5 OCA].
[[2dn5]] 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=2DN5 OCA].
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==Reference==
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<references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Doi-Katayama, Y.]]
[[Category: Doi-Katayama, Y.]]

Revision as of 03:22, 25 March 2013

Template:STRUCTURE 2dn5

Contents

Solution Structure of RSGI RUH-057, 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

2dn5 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

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