Filamin
From Proteopedia
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<StructureSection load='2wa5' size='350' side='right' scene='' caption='Human Filamin B actin-binding domain complex with sulfate and carbonate (PDB code [[2wa5]]) '> | <StructureSection load='2wa5' size='350' side='right' scene='' caption='Human Filamin B actin-binding domain complex with sulfate and carbonate (PDB code [[2wa5]]) '> | ||
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| + | __TOC__ | ||
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== Function == | == Function == | ||
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Mutations in FLNA cause frontometaphyseal dysplasia, intestinal pseudo-obstruction, Melnick-Needles syndrome, otopalatodigital syndrome and periventricular heterotopia. Mutations in FLNAB cause boomerang dysplasia<ref>PMID:25614868</ref>. | Mutations in FLNA cause frontometaphyseal dysplasia, intestinal pseudo-obstruction, Melnick-Needles syndrome, otopalatodigital syndrome and periventricular heterotopia. Mutations in FLNAB cause boomerang dysplasia<ref>PMID:25614868</ref>. | ||
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| + | ==3D structures of filamin== | ||
| + | [[Filamin 3D structures]] | ||
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</StructureSection> | </StructureSection> | ||
==3D structures of filamin== | ==3D structures of filamin== | ||
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{{#tree:id=OrganizedByTopic|openlevels=0| | {{#tree:id=OrganizedByTopic|openlevels=0| | ||
| - | * Filamin A | + | * Filamin A; Domains – ABD 1-278; 3-5 478-766; 10 1158-1252; 16 1772-1861; 17 1862-1955; 18 1954-2053; 19 2054-2141; 20 2142-2235; 21 2236-2329; 23 2427-2522; 24 2559-2647 |
| - | + | **[[2wfn]], [[3hop]], [[3hor]] – hFLNA ABD - human<br /> | |
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| - | **[[2wfn]], [[3hop]], [[3hor]] – hFLNA ABD<br /> | + | |
**[[3hoc]] – hFLNA ABD (mutant)<br /> | **[[3hoc]] – hFLNA ABD (mutant)<br /> | ||
| + | **[[6d8c]] - hFLNA ABD (mutant) + actin + phalloidin – Cryo EM<br /> | ||
**[[4m9p]] - hFLNA domains 3-5<br /> | **[[4m9p]] - hFLNA domains 3-5<br /> | ||
| + | **[[6ew1]] - hFLNA domains 3-5 (mutant)<br /> | ||
| + | **[[3rgh]] - hFLNA domain 10<br /> | ||
**[[2aav]] - hFLNA domain 17 – NMR<br /> | **[[2aav]] - hFLNA domain 17 – NMR<br /> | ||
**[[2bp3]] - hFLNA domain 17+GPIB peptide<br /> | **[[2bp3]] - hFLNA domain 17+GPIB peptide<br /> | ||
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**[[2w0p]], [[2mtp]] - hFLNA domain 21+migfilin peptide<br /> | **[[2w0p]], [[2mtp]] - hFLNA domain 21+migfilin peptide<br /> | ||
**[[2jf1]], [[2brq]] - hFLNA domain 21+integrin peptide<br /> | **[[2jf1]], [[2brq]] - hFLNA domain 21+integrin peptide<br /> | ||
| + | **[[3isw]] – hFLNA domain 21+CFTR peptide <br /> | ||
**[[2k3t]] - hFLNA domain 23 – NMR<br /> | **[[2k3t]] - hFLNA domain 23 – NMR<br /> | ||
| - | **[[3cnk]] - hFLNA | + | **[[3cnk]] - hFLNA domain 24<br /> |
* Filamin B | * Filamin B | ||
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* Filamin C | * Filamin C | ||
| - | **[[2k9u]] – hFLNC+migfilin peptide<br /> | + | **[[3v8o]] - hFLNC domains 4,5 <br /> |
| + | **[[4mgx]] - hFLNC domains 4,5 + platelet glycoprotein peptide<br /> | ||
| + | **[[2k9u]] – hFLNC residues 919-1032 +migfilin peptide<br /> | ||
**[[2d7m]], [[2d7n]], [[2d7o]], [[2d7p]] - hFLNC domains 14, 16, 17, 22 - NMR<br /> | **[[2d7m]], [[2d7n]], [[2d7o]], [[2d7p]] - hFLNC domains 14, 16, 17, 22 - NMR<br /> | ||
**[[2nqc]] - hFLNC domain 21<br /> | **[[2nqc]] - hFLNC domain 21<br /> | ||
**[[2d7q]] - hFLNC domain 23 – NMR<br /> | **[[2d7q]] - hFLNC domain 23 – NMR<br /> | ||
| - | + | **[[1v05]] - hFLNC rod domain<br /> | |
| - | + | ||
| - | **[[1v05]] - hFLNC | + | |
* Other Filamins | * Other Filamins | ||
Revision as of 09:04, 1 July 2019
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3D structures of filamin
Updated on 01-July-2019
References
- ↑ Clark AR, Sawyer GM, Robertson SP, Sutherland-Smith AJ. Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders. Hum Mol Genet. 2009 Dec 15;18(24):4791-800. Epub 2009 Sep 22. PMID:19773341 doi:10.1093/hmg/ddp442
- ↑ Sawyer GM, Clark AR, Robertson SP, Sutherland-Smith AJ. Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domains. J Mol Biol. 2009 Jul 31;390(5):1030-47. Epub 2009 Jun 6. PMID:19505475 doi:10.1016/j.jmb.2009.06.009
- ↑ van der Flier A, Sonnenberg A. Structural and functional aspects of filamins. Biochim Biophys Acta. 2001 Apr 23;1538(2-3):99-117. PMID:11336782
- ↑ Brunetti-Pierri N, Torrado M, Fernandez Mdel C, Tello AM, Arberas CL, Cardinale A, Piccolo P, Bacino CA. Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation. Mol Genet Genomic Med. 2014 Nov;2(6):467-71. doi: 10.1002/mgg3.90. Epub 2014 Aug , 8. PMID:25614868 doi:http://dx.doi.org/10.1002/mgg3.90
