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Filamin

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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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</StructureSection>
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==3D structures of filamin==
==3D structures of filamin==
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[[Filamin 3D structures]]
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Updated on {{REVISIONDAY2}}-{{MONTHNAME|{{REVISIONMONTH}}}}-{{REVISIONYEAR}}
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</StructureSection>
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{{#tree:id=OrganizedByTopic|openlevels=0|
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* Filamin A
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**[[3isw]] – hFLNA repeat 21+CFTR peptide – human<br />
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**[[3rgh]] - hFLNA repeat 10<br />
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**[[2wfn]], [[3hop]], [[3hor]] – hFLNA ABD<br />
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**[[3hoc]] – hFLNA ABD (mutant)<br />
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**[[4m9p]] - hFLNA domains 3-5<br />
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**[[2aav]] - hFLNA domain 17 – NMR<br />
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**[[2bp3]] - hFLNA domain 17+GPIB peptide<br />
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**[[2k7p]] – hFLNA domains 16-17<br />
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**[[2k7q]] - hFLNA domains 18-19<br />
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**[[2j3s]] - hFLNA domains 19-21<br />
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**[[2w0p]] - hFLNA domain 21+migfilin peptide<br />
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**[[2jf1]], [[2brq]] - hFLNA domain 21+integrin peptide<br />
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**[[2k3t]] - hFLNA domain 23 – NMR<br />
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**[[3cnk]] - hFLNA DD<br />
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* Filamin B
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**[[2wa5]], [[3fer]] - hFLNB ABD<br />
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**[[2wa6]], [[2wa7]], [[4b7l]] - hFLNB ABD (mutant)<br />
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**[[2di9]], [[2dia]], [[2dib]], [[2dic]], [[2dj4]], [[2e9j]], [[2dmb]], [[2ee9]], [[2ee7]], [[2dmc]], [[2di8]], [[2dlg]], [[2e9i]], [[2ee6]], [[2eeb]], [[2eec]], [[2eed]] - hFLNB domains 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 20, 21, 22, 23, 24 – NMR<br />
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**[[2eea]] - hFLNB domain 17 – NMR<br />
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**[[5dcp]] - hFLNB domains 16-17<br />
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* Filamin C
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**[[2k9u]] – hFLNC+migfilin peptide<br />
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**[[2d7m]], [[2d7n]], [[2d7o]], [[2d7p]] - hFLNC domains 14, 16, 17, 22 - NMR<br />
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**[[2nqc]] - hFLNC domain 21<br />
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**[[2d7q]] - hFLNC domain 23 – NMR<br />
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**[[3v8o]] - hFLNC domains 4,5 <br />
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**[[4mgx]] - hFLNC domains 4,5 + platelet glycoprotein peptide<br />
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**[[1v05]] - hFLNC DD<br />
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* Other Filamins
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**[[1wlh]], [[1qfh]] – FLN rod domain – ''Dictyostelium discoideum''<br />
 
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}}
 
==References==
==References==
<references />
<references />
[[Category:Topic Page]]
[[Category:Topic Page]]

Current revision

Human Filamin B actin-binding domain complex with sulfate and carbonate (PDB code 2wa5)

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References

  1. ↑ 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
  2. ↑ 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
  3. ↑ 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
  4. ↑ 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

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