2d99: Difference between revisions

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~~[[Image:2d99.png|left|200px]]~~

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

===~~Solution Structure~~ of ~~RSGI RUH-048~~, 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==

[[2d99]] 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=2D99 OCA].

==Reference==

[[Category: Homo sapiens]]

[[Category: Doi-Katayama, Y.]]

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-[[Image:2d99.png|left|200px]]
 {{STRUCTURE_2d99|  PDB=2d99  |  SCENE=  }}
+===Solution Structure of RSGI RUH-048, a GTF2I domain in human cDNA===
-===Solution Structure of RSGI RUH-048, 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==
 [[2d99]] 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=2D99 OCA].
+==Reference==
+<references group="xtra"/><references/>
 [[Category: Homo sapiens]]
 [[Category: Doi-Katayama, Y.]]