2v0e: Difference between revisions
No edit summary |
No edit summary |
||
Line 4: | Line 4: | ||
==Overview== | ==Overview== | ||
CHD7 is a member of the chromodomain helicase DNA binding domain (CHD) | CHD7 is a member of the chromodomain helicase DNA binding domain (CHD) family of ATP-dependent chromatin remodelling enzymes. It is mutated in CHARGE syndrome, a multiple congenital anomaly condition. CHD7 is one of a subset of CHD proteins, unique to metazoans that contain the BRK domain, a protein module also found in the Brahma/BRG1 family of helicases. We describe here the NMR solution structure of the two BRK domains of CHD7. Each domain has a compact betabetaalphabeta fold. The second domain has a C-terminal extension consisting of two additional helices. The structure differs from those of other domains present in chromatin-associated proteins. | ||
==Disease== | |||
Known diseases associated with this structure: CHARGE syndrome OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608892 608892]], Scoliosis, idiopathic 3 OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608892 608892]] | |||
==About this Structure== | ==About this Structure== | ||
Line 10: | Line 13: | ||
==Reference== | ==Reference== | ||
Solution | Solution structure of the BRK domains from CHD7., Allen MD, Religa TL, Freund SM, Bycroft M, J Mol Biol. 2007 Aug 31;371(5):1135-40. Epub 2007 Jun 9. PMID:[http://ispc.weizmann.ac.il//pmbin/getpm?pmid=17603073 17603073] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Single protein]] | [[Category: Single protein]] | ||
[[Category: Allen, M | [[Category: Allen, M D.]] | ||
[[Category: Bycroft, M.]] | [[Category: Bycroft, M.]] | ||
[[Category: Freund, S | [[Category: Freund, S M.V.]] | ||
[[Category: Religa, T | [[Category: Religa, T L.]] | ||
[[Category: atp-binding]] | [[Category: atp-binding]] | ||
[[Category: brk domain]] | [[Category: brk domain]] | ||
Line 32: | Line 35: | ||
[[Category: transcription regulation]] | [[Category: transcription regulation]] | ||
''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Thu Feb 21 18:52:06 2008'' |