This old version of Proteopedia is provided for student assignments while the new version is undergoing repairs. Content and edits done in this old version of Proteopedia after March 1, 2026 will eventually be lost when it is retired in about June of 2026.

Apply for new accounts at the new Proteopedia. Your logins will work in both the old and new versions.


Filamin

From Proteopedia

(Difference between revisions)
Jump to: navigation, search
Current revision (09:05, 1 July 2019) (edit) (undo)
 
(24 intermediate revisions not shown.)
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=Filamin/Cv/1 |right|CAPTION=Human Filamin A, [[3hop]] }}
+
-
[[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.
+
-
{{TOC limit|limit=2}}
+
__TOC__
-
== Filamin A ==
+
 +
== Function ==
-
[[3isw]] – hFLNA repeat 21+CFTR peptide – human<br />
+
* [[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 />
-
[[2wfn]], [[3hop]], [[3hor]] – hFLNA ABD<br />
+
* '''Filamin B (FLNB)''' is a human cytoplasmic protein which functions similarly to FLNA and guides proper skeletal development<ref>PMID:19505475</ref>.<br />
-
[[3hoc]] – hFLNA ABD (mutant)<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 />
-
[[2aav]] - hFLNA domain 17 – NMR<br />
+
For more details on filamin C see [[Group:MUZIC:FilaminC]].
-
[[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 />
+
 +
== Disease ==
-
== Filamin B ==
+
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]]
-
[[2wa5]], [[3fer]], [[2eea]] - hFLNB ABD<br />
+
</StructureSection>
-
[[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 />
+
==References==
==References==

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

Proteopedia Page Contributors and Editors (what is this?)

Michal Harel, Alexander Berchansky, Jaime Prilusky

Retrieved from "http://52.214.119.220/wiki/index.php/Filamin"
Personal tools