Filamin: Difference between revisions

Latest revision as of 09:05, 1 July 2019

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

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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^[4].

3D structures of filamin

Filamin 3D structures

↑ 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:https://dx.doi.org/10.1002/mgg3.90

References

Proteopedia Page Contributors and Editors (what is this?)

Alexander Berchansky, Jaime Prilusky, Michal Harel

[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:https://dx.doi.org/10.1002/mgg3.90

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 </StructureSection>
-==3D structures of filamin==
-Updated on {{REVISIONDAY2}}-{{MONTHNAME|{{REVISIONMONTH}}}}-{{REVISIONYEAR}}
-{{#tree:id=OrganizedByTopic|openlevels=0|
-* 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 />
-**[[3hoc]] – hFLNA  ABD (mutant)<br />
-**[[6d8c]] - hFLNA  ABD (mutant) + actin + phalloidin – Cryo EM<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 />
-**[[2bp3]] - hFLNA domain 17+GPIB peptide<br />
-**[[2k7p]] – hFLNA domains 16-17<br />
-**[[2k7q]] - hFLNA domains 18-19<br />
-**[[2j3s]] - hFLNA domains 19-21<br />
-**[[2w0p]], [[2mtp]] - hFLNA domain 21+migfilin peptide<br />
-**[[2jf1]], [[2brq]] - hFLNA domain 21+integrin peptide<br />
-**[[3isw]] – hFLNA domain 21+CFTR peptide <br />
-**[[2k3t]] - hFLNA domain 23 – NMR<br />
-**[[3cnk]] - hFLNA domain 24<br />
-* Filamin B
-**[[2wa5]], [[3fer]] - hFLNB  ABD<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 />
-**[[2eea]] - hFLNB domain 17 – NMR<br />
-**[[5dcp]] - hFLNB domains 16-17<br />
-* Filamin C
-**[[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 />
-**[[2nqc]] - hFLNC domain 21<br />
-**[[2d7q]] - hFLNC domain 23 – NMR<br />
-**[[1v05]] - hFLNC rod domain<br />
-* Other Filamins
-**[[1wlh]], [[1qfh]] – FLN rod domain – ''Dictyostelium discoideum''<br />
-}}
 ==References==
 <references />
 [[Category:Topic Page]]

Filamin: Difference between revisions

Latest revision as of 09:05, 1 July 2019

Contents

Function

Disease

3D structures of filamin

References

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