Filamin: Difference between revisions
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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> | |||
==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 /> | |||
* Filamin C | * Filamin C | ||
