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Filamin
From Proteopedia
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[[Image:3hop.png|left|200px|thumb|Crystal structure of Human Filamin A complex with phosphate, [[3hop]]]] | [[Image:3hop.png|left|200px|thumb|Crystal structure of Human Filamin A complex with phosphate, [[3hop]]]] | ||
| - | + | <StructureSection load='2wa5' size='350' side='right' scene='' caption='Human Filamin B actin-binding domain complex with sulfate and carbonate (PDB code [[2wa5]]) '> | |
| + | == Function == | ||
| + | * [[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 /> | ||
| + | * '''Filamin B (FLNB)''' is a human cytoplasmic protein which functions similarly to FLNA and guides proper skeletal development<ref>PMID:19505475</ref>.<br /> | ||
| + | * '''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 /> | ||
| + | For more details on filamin C see [[Group:MUZIC:FilaminC]]. | ||
| + | == Disease == | ||
| - | + | Mutations in FLNA cause frontometaphyseal dysplasia, intestinal pseudo-obstruction, Melnick-Needles syndrome, otopalatodigital syndrome and periventricular heterotopia. Mutations in FLNAB cause boomerang dysplasia. | |
| - | + | </StructureSection> | |
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==3D structures of filamin== | ==3D structures of filamin== | ||
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* Filamin B | * Filamin B | ||
| - | **[[2wa5]], [[3fer | + | **[[2wa5]], [[3fer]] - hFLNB ABD<br /> |
**[[2wa6]], [[2wa7]], [[4b7l]] - hFLNB ABD (mutant)<br /> | **[[2wa6]], [[2wa7]], [[4b7l]] - hFLNB ABD (mutant)<br /> | ||
**[[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 /> | **[[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 /> | ||
| + | **[[2eea]] - hFLNB domain 17 – NMR<br /> | ||
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* Filamin C | * Filamin C | ||
Revision as of 15:10, 22 January 2016
Image:3hop.png
Crystal structure of Human Filamin A complex with phosphate, 3hop
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3D structures of filamin
Updated on 22-January-2016
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
