5u6h: Difference between revisions

<StructureSection load='5u6h' size='340' side='right'caption='[[5u6h]]' scene=''>

<table><tr><td colspan='2'>[[5u6h]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=5U6H OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=5U6H FirstGlance]. <br>

</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ZN:ZINC+ION'>ZN</scene></td></tr>

<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=5u6h FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5u6h OCA], [https://pdbe.org/5u6h PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=5u6h RCSB], [https://www.ebi.ac.uk/pdbsum/5u6h PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=5u6h ProSAT]</span></td></tr>

[https://www.uniprot.org/uniprot/MBNL1_HUMAN MBNL1_HUMAN] Plays a role in the pathogenesis of dystrophia myotonica type 1 (DM1) [MIM:[https://omim.org/entry/160900 160900]. A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias. Note=In muscle cells from DM1 patients, MBNL1 is sequestered by DMPK RNAs containing CUG triplet repeat expansions. MBNL1 binding is proportional to repeat length consistent with the direct correlation between the length of repeat expansion and disease severity.

[https://www.uniprot.org/uniprot/MBNL1_HUMAN MBNL1_HUMAN] Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Binds to the 5'-YGCU(U/G)Y-3'consensus sequence. Binds to the IR RNA. Binds to expanded CUG repeat RNA, which folds into a hairpin structure containing GC base pairs and bulged, unpaired U residues.<ref>PMID:10970838</ref> <ref>PMID:15257297</ref> <ref>PMID:16946708</ref> <ref>PMID:18335541</ref> <ref>PMID:19470458</ref>  

[[Category: Homo sapiens]]

[[Category: Large Structures]]

[[Category: Dyson HJ]]

[[Category: Martinez-Yamout MM]]

[[Category: Park S]]

[[Category: Phukan PD]]

[[Category: Wright PE]]

[[Category: Zeeb M]]