|
|
| (31 intermediate revisions by 3 users 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]] }}
| |
|
| |
|
| {{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. The images at the left and at the right correspond to one representative Filamin structure, ''i.e.'' crystal structure of Human Filamin A ([[3hop]]), it forms a <scene name='Filamin/Cv/2'>dimer</scene> <ref>PMID:19773341</ref>. | | * [[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 />
| |
| | |
| | |
| == Filamin B ==
| |
| | |
| | |
| [[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 />
| |
|
| |
|
| ==References== | | ==References== |
| <references /> | | <references /> |
| | |
| | [[Category:Topic Page]] |
