2kft: Difference between revisions
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{{STRUCTURE_2kft| PDB=2kft | SCENE= }} | {{STRUCTURE_2kft| PDB=2kft | SCENE= }} | ||
===NMR Solution structure of the first PHD finger domain of human Autoimmune Regulator (AIRE) in complex with Histone H3(1-20Cys) Peptide=== | |||
{{ABSTRACT_PUBMED_19446523}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/AIRE_HUMAN AIRE_HUMAN]] Defects in AIRE are a cause of autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:[http://omim.org/entry/240300 240300]]. An autosomal recessive disease characterized by the combination of chronic mucocutaneous candidiasis, hypoparathyroidism and Addison disease. Symptoms of mucocutaneous candidiasis manifest first, followed by hypotension or fatigue occurring as a result of Addison disease. APS1 is associated with other autoimmune disorders including diabetes mellitus, vitiligo, alopecia, hepatitis, pernicious anemia and primary hypothyroidism.<ref>PMID:18292755</ref><ref>PMID:10677297</ref><ref>PMID:11274163</ref><ref>PMID:14974083</ref><ref>PMID:9398839</ref><ref>PMID:15649886</ref><ref>PMID:19446523</ref><ref>PMID:9888391</ref><ref>PMID:11275943</ref><ref>PMID:11524731</ref><ref>PMID:11524733</ref><ref>PMID:11600535</ref><ref>PMID:12173302</ref><ref>PMID:12625412</ref><ref>PMID:11836330</ref><ref>PMID:12050215</ref><ref>PMID:15712268</ref><ref>PMID:16114041</ref> Note=Most of the mutations alter the nucleus-cytoplasm distribution of AIRE and disturb its association with nuclear dots and cytoplasmic filaments. Most of the mutations also decrease transactivation of the protein. The HSR domain is responsible for the homomultimerization activity of AIRE. All the missense mutations of the HSR and the SAND domains decrease this activity, but those in other domains do not. The AIRE protein is present in soluble high-molecular-weight complexes. Mutations in the HSR domain and deletion of PHD zinc fingers disturb the formation of these complexes. | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/AIRE_HUMAN AIRE_HUMAN]] Transcriptional regulator that binds to DNA as a dimer or as a tetramer, but not as a monomer. Binds to G-doublets in an A/T-rich environment; the preferred motif is a tandem repeat of 5'-. ATTGGTTA-3' combined with a 5'-TTATTA-3' box. Binds to nucleosomes (By similarity). Binds to chromatin and interacts selectively with histone H3 that is not methylated at 'Lys-4', not phosphorylated at 'Thr-3' and not methylated at 'Arg-2'. Functions as a sensor of histone H3 modifications that are important for the epigenetic regulation of gene expression. Functions as a transcriptional activator and promotes the expression of otherwise tissue-specific self-antigens in the thymus, which is important for self tolerance and the avoidance of autoimmune reactions.<ref>PMID:18292755</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:019446523</ref><references group="xtra"/> | <ref group="xtra">PMID:019446523</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Chakravarty, S.]] | [[Category: Chakravarty, S.]] | ||
