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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@@ Line 1: / Line 1: @@
-[[Image:3hop.png|left|200px|thumb|Crystal structure of Human Filamin A, [[3hop]]]]
+<StructureSection load='2wa5' size='350' side='right' scene='' caption='Human Filamin B actin-binding domain complex with sulfate and carbonate (PDB code [[2wa5]]) '>
-{{STRUCTURE_3hop|  PDB=3hop  | SIZE=300| SCENE= |right|CAPTION=Human Filamin A, [[3hop]] }}
-{{TOC limit|limit=2}}
+__TOC__
-'''Filamin'''
+== Function ==
-'''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.
+* [[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 ==
-== Filamin A ==
+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>.
+==3D structures of filamin==
+[[Filamin 3D structures]]
-[[3isw]] – hFLNA repeat 21+CFTR peptide – human<br />
+</StructureSection>
-[[2wfn]], [[3hop]], [[3hor]] – hFLNA ABD<br />
-[[3hoc]] – hFLNA  ABD (mutant)<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]] - hFLNA domain 21+migfilin peptide<br />
-[[2jf1]], [[2brq]] - hFLNA domain 21+integrin peptide<br />
-[[2k3t]] - hFLNA domain 23 – NMR<br />
-[[3cnk]] - hFLNA DD<br />
+==References==
+<references />
-== Filamin B ==
+[[Category:Topic Page]]
-[[2wa5]], [[3fer]] - hFLNB  ABD<br />
-[[2wa6]], [[2wa7]] - 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 />
-== Filamin C ==
-[[2k9u]] – hFLNC+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 DD<br />
-== Other Filamins ==
-[[1wlh]], [[1qfh]] – FLN rod domain – Dictyostelium discoideum<br />

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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