3kv4: Difference between revisions
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{{STRUCTURE_3kv4| PDB=3kv4 | SCENE= }} | {{STRUCTURE_3kv4| PDB=3kv4 | SCENE= }} | ||
===Structure of PHF8 in complex with histone H3=== | ===Structure of PHF8 in complex with histone H3=== | ||
{{ABSTRACT_PUBMED_20023638}} | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/PHF8_HUMAN PHF8_HUMAN]] Defects in PHF8 are the cause of mental retardation syndromic X-linked Siderius type (MRXSSD) [MIM:[http://omim.org/entry/300263 300263]]. A disorder characterized by mild to borderline mental retardation with or without cleft lip/cleft palate.<ref>PMID:20548336</ref><ref>PMID:20346720</ref><ref>PMID:20421419</ref><ref>PMID:20208542</ref><ref>PMID:20622853</ref><ref>PMID:20622854</ref><ref>PMID:20101266</ref><ref>PMID:16199551</ref><ref>PMID:17661819</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/PHF8_HUMAN PHF8_HUMAN]] Histone lysine demethylase with selectivity for the di- and monomethyl states that plays a key role cell cycle progression, rDNA transcription and brain development. Demethylates mono- and dimethylated histone H3 'Lys-9' residue (H3K9Me1 and H3K9Me2), dimethylated H3 'Lys-27' (H3K27Me2) and monomethylated histone H4 'Lys-20' residue (H4K20Me1). Acts as a transcription activator as H3K9Me1, H3K9Me2, H3K27Me2 and H4K20Me1 are epigenetic repressive marks. Involved in cell cycle progression by being required to control G1-S transition. Acts as a coactivator of rDNA transcription, by activating polymerase I (pol I) mediated transcription of rRNA genes. Required for brain development, probably by regulating expression of neuron-specific genes. Only has activity toward H4K20Me1 when nucleosome is used as a substrate and when not histone octamer is used as substrate. May also have weak activity toward dimethylated H3 'Lys-36' (H3K36Me2), however, the relevance of this result remains unsure in vivo. Specifically binds trimethylated 'Lys-4' of histone H3 (H3K4me3), affecting histone demethylase specificity: has weak activity toward H3K9Me2 in absence of H3K4me3, while it has high activity toward H3K9me2 when binding H3K4me3.<ref>PMID:20531378</ref><ref>PMID:20548336</ref><ref>PMID:19843542</ref><ref>PMID:20346720</ref><ref>PMID:20421419</ref><ref>PMID:20208542</ref><ref>PMID:20622853</ref><ref>PMID:20622854</ref><ref>PMID:20101266</ref><ref>PMID:20023638</ref> [[http://www.uniprot.org/uniprot/H3L_HUMAN H3L_HUMAN]] Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Hominid-specific H3.5/H3F3C preferentially colocalizes with euchromatin, and it is associated with actively transcribed genes.<ref>PMID:21274551</ref> | |||
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==About this Structure== | ==About this Structure== | ||
[[3kv4]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3KV4 OCA]. | |||
==Reference== | ==Reference== | ||
<ref group="xtra">PMID: | <ref group="xtra">PMID:020023638</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Cheng, X.]] | [[Category: Cheng, X.]] | ||
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[[Category: Covalent histone modification]] | [[Category: Covalent histone modification]] | ||
[[Category: Epigenetic]] | [[Category: Epigenetic]] | ||
[[Category: H3k4me3 binding protein]] | |||
[[Category: Histone code]] | [[Category: Histone code]] | ||
[[Category: Jumonji demethylase]] | [[Category: Jumonji demethylase]] | ||
[[Category: Mental retardation]] | [[Category: Mental retardation]] | ||
[[Category: Metal-binding]] | [[Category: Metal-binding]] | ||
[[Category: | [[Category: Transferase]] | ||
[[Category: Zinc-finger]] | [[Category: Zinc-finger]] | ||