2l1g: Difference between revisions
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{{STRUCTURE_2l1g| PDB=2l1g | SCENE= }} | {{STRUCTURE_2l1g| PDB=2l1g | SCENE= }} | ||
===RDC refined solution structure of the THAP zinc finger of THAP1 in complex with its 16bp RRM1 DNA target=== | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/THAP1_HUMAN THAP1_HUMAN]] Defects in THAP1 are the cause of dystonia type 6 (DYT6) [MIM:[http://omim.org/entry/602629 602629]]. DYT6 is a primary torsion dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions.[:]<ref>PMID:19345147</ref><ref>PMID:19908325</ref><ref>PMID:19908320</ref><ref>PMID:19182804</ref><ref>PMID:20629133</ref><ref>PMID:20669277</ref><ref>PMID:20687191</ref><ref>PMID:20083799</ref><ref>PMID:20211909</ref><ref>PMID:21847143</ref><ref>PMID:20825472</ref><ref>PMID:21800139</ref><ref>PMID:21839475</ref><ref>PMID:21425335</ref><ref>PMID:21425341</ref><ref>PMID:21110056</ref><ref>PMID:22377579</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/THAP1_HUMAN THAP1_HUMAN]] DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle progression. Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNA sequence and acts by modulating expression of pRB-E2F cell-cycle target genes, including RRM1. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. May also have pro-apoptopic activity by potentiating both serum-withdrawal and TNF-induced apoptosis.<ref>PMID:12717420</ref><ref>PMID:17003378</ref><ref>PMID:20200153</ref> | |||
==About this Structure== | ==About this Structure== | ||
[[2l1g]] is a 3 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=2L1G OCA]. | [[2l1g]] is a 3 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=2L1G OCA]. | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Campagne, S.]] | [[Category: Campagne, S.]] | ||
