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| [[Image:3hop.png|left|200px|thumb|Crystal structure of Human Filamin A complex with phosphate, [[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]]) '> | | <StructureSection load='2wa5' size='350' side='right' scene='' caption='Human Filamin B actin-binding domain complex with sulfate and carbonate (PDB code [[2wa5]]) '> |
| == Function == | | == Function == |
Revision as of 11:29, 21 February 2016
| Function
- Filamin A (FLNA) has an actin-binding domain (ABD). It crosslinks actin filaments and participates in anchoring of membrane proteins[1].
- Filamin B (FLNB) is a human cytoplasmic protein which functions similarly to FLNA and guides proper skeletal development[2].
- 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[3].
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.
- ↑ 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
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3D structures of filamin
Updated on 21-February-2016
{"openlevels":0}
- Filamin A
- 3isw – hFLNA repeat 21+CFTR peptide – human
- 3rgh - hFLNA repeat 10
- 2wfn, 3hop, 3hor – hFLNA ABD
- 3hoc – hFLNA ABD (mutant)
- 4m9p - hFLNA domains 3-5
- 2aav - hFLNA domain 17 – NMR
- 2bp3 - hFLNA domain 17+GPIB peptide
- 2k7p – hFLNA domains 16-17
- 2k7q - hFLNA domains 18-19
- 2j3s - hFLNA domains 19-21
- 2w0p - hFLNA domain 21+migfilin peptide
- 2jf1, 2brq - hFLNA domain 21+integrin peptide
- 2k3t - hFLNA domain 23 – NMR
- 3cnk - hFLNA DD
- Filamin B
- 2wa5, 3fer - hFLNB ABD
- 2wa6, 2wa7, 4b7l - hFLNB ABD (mutant)
- 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
- 2eea - hFLNB domain 17 – NMR
- Filamin C
- 2k9u – hFLNC+migfilin peptide
- 2d7m, 2d7n, 2d7o, 2d7p - hFLNC domains 14, 16, 17, 22 - NMR
- 2nqc - hFLNC domain 21
- 2d7q - hFLNC domain 23 – NMR
- 3v8o - hFLNC domains 4,5
- 4mgx - hFLNC domains 4,5 + platelet glycoprotein peptide
- 1v05 - hFLNC DD
- Other Filamins
- 1wlh, 1qfh – FLN rod domain – Dictyostelium discoideum
References
