2dn5: Difference between revisions
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{{STRUCTURE_2dn5| PDB=2dn5 | SCENE= }} | {{STRUCTURE_2dn5| PDB=2dn5 | SCENE= }} | ||
===Solution Structure of RSGI RUH-057, 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. | |||
==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== | ||
[[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]. | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Doi-Katayama, Y.]] | [[Category: Doi-Katayama, Y.]] | ||
