Filamin

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[[Image:3hop.png|left|200px|thumb|Crystal structure of Human Filamin A, [[3hop]]]]
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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]]) '>
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{{STRUCTURE_3hop| PDB=3hop | SIZE=300| SCENE=Filamin/Cv/1 |right|CAPTION=Human Filamin A, [[3hop]] }}
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[[Filamin]] A (FLNA) has an actin-binding domain (ABD). It crosslinks actin filaments and participates in anchoring of membrane proteins. '''Filamin B (FLNB)''' is a human cytoplasmic protein which functions similarly to FLNA and guides proper skeletal development. '''Filamin C (FLNC)''' is functionally similar and contains 3 domains: the N-terminal ABD, the C-terminal dimerization domain (DD) and a membrane glycoprotein-binding domain. The images at the left and at the right correspond to one representative filamin structure, ''i.e.'' the crystal structure of human filamin A ([[3hop]]), it forms a <scene name='Filamin/Cv/2'>dimer</scene> <ref>PMID:19773341</ref>. Two phosphate ions are rendered as space filling objects.
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{{TOC limit|limit=2}}
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__TOC__
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== Filamin A ==
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== Function ==
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[[3isw]] – hFLNA repeat 21+CFTR peptide – human<br />
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* [[Filamin]] '''A (FLNA)''' has an actin-binding domain (ABD). It crosslinks actin filaments and participates in anchoring of membrane proteins<ref>PMID:19773341</ref>.<br />
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[[2wfn]], [[3hop]], [[3hor]] – hFLNA ABD<br />
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* '''Filamin B (FLNB)''' is a human cytoplasmic protein which functions similarly to FLNA and guides proper skeletal development<ref>PMID:19505475</ref>.<br />
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[[3hoc]] – hFLNA ABD (mutant)<br />
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* '''Filamin C (FLNC)''' is functionally similar and contains 3 domains: the N-terminal ABD, the C-terminal dimerization domain (DD) and a membrane glycoprotein-binding domain<ref>PMID:11336782</ref>.<br />
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[[2aav]] - hFLNA domain 17 – NMR<br />
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For more details on filamin C see [[Group:MUZIC:FilaminC]].
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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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== Disease ==
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== Filamin B ==
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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>.
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==3D structures of filamin==
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[[Filamin 3D structures]]
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[[2wa5]], [[3fer]], [[2eea]] - hFLNB ABD<br />
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</StructureSection>
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[[2wa6]], [[2wa7]] - 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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== 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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[[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 />
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[[Category:Topic Page]]

Current revision

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

Drag the structure with the mouse to rotate

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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Michal Harel, Alexander Berchansky, Jaime Prilusky

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