5whn
From Proteopedia
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| - | '''Unreleased structure''' | ||
| - | + | ==Crystal structure of the segment, NFGAFS, from the low complexity domain of TDP-43, residues 312-317== | |
| - | + | <StructureSection load='5whn' size='340' side='right' caption='[[5whn]], [[Resolution|resolution]] 1.10Å' scene=''> | |
| - | + | == Structural highlights == | |
| - | + | <table><tr><td colspan='2'>[[5whn]] is a 1 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=5WHN OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=5WHN FirstGlance]. <br> | |
| - | + | </td></tr><tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=5whn FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5whn OCA], [http://pdbe.org/5whn PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=5whn RCSB], [http://www.ebi.ac.uk/pdbsum/5whn PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=5whn ProSAT]</span></td></tr> | |
| - | [[ | + | </table> |
| - | [[ | + | == Disease == |
| - | [[Category: Eisenberg, D | + | [[http://www.uniprot.org/uniprot/TADBP_HUMAN TADBP_HUMAN]] Defects in TARDBP are the cause of amyotrophic lateral sclerosis type 10 (ALS10) [MIM:[http://omim.org/entry/612069 612069]]. ALS is a neurodegenerative disorder affecting upper and lower motor neurons and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of ALS is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.<ref>PMID:20740007</ref> <ref>PMID:18288693</ref> <ref>PMID:18438952</ref> <ref>PMID:18396105</ref> <ref>PMID:18372902</ref> <ref>PMID:18309045</ref> <ref>PMID:19350673</ref> <ref>PMID:19224587</ref> <ref>PMID:19655382</ref> <ref>PMID:19695877</ref> <ref>PMID:21220647</ref> <ref>PMID:21418058</ref> <ref>PMID:22456481</ref> |
| - | [[Category: Guenther, E | + | == Function == |
| + | [[http://www.uniprot.org/uniprot/TADBP_HUMAN TADBP_HUMAN]] DNA and RNA-binding protein which regulates transcription and splicing. Involved in the regulation of CFTR splicing. It promotes CFTR exon 9 skipping by binding to the UG repeated motifs in the polymorphic region near the 3'-splice site of this exon. The resulting aberrant splicing is associated with pathological features typical of cystic fibrosis. May also be involved in microRNA biogenesis, apoptosis and cell division. Can repress HIV-1 transcription by binding to the HIV-1 long terminal repeat. Stabilizes the low molecular weight neurofilament (NFL) mRNA through a direct interaction with the 3' UTR.<ref>PMID:17481916</ref> <ref>PMID:11285240</ref> | ||
| + | == References == | ||
| + | <references/> | ||
| + | __TOC__ | ||
| + | </StructureSection> | ||
| + | [[Category: Eisenberg, D S]] | ||
| + | [[Category: Guenther, E L]] | ||
| + | [[Category: Sawaya, M R]] | ||
| + | [[Category: Amyloid]] | ||
| + | [[Category: Lark]] | ||
| + | [[Category: Protein fibril]] | ||
| + | [[Category: Tdp-43]] | ||
Revision as of 05:26, 25 April 2018
Crystal structure of the segment, NFGAFS, from the low complexity domain of TDP-43, residues 312-317
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Categories: Eisenberg, D S | Guenther, E L | Sawaya, M R | Amyloid | Lark | Protein fibril | Tdp-43
