Group:MUZIC:XIN: Difference between revisions

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== Sequence Annotation ==
== Sequence Annotation ==
[[Image:3hop.png|left|200px|thumb|Crystal structure of Human Filamin A, [[3hop]]]]
{{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.
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== Filamin A ==





Revision as of 11:14, 5 July 2011

Xin actin-binding repeat-containing protein 1 (Alternative name: Cardiomyopathy-associated protein 1) is coded by the gene (Synonyms:CMYA1, XIN) and has an actin-binding domain (ABD). It crosslinks actin filaments and participates in anchoring of membrane proteins.

Sequence AnnotationSequence Annotation

File:3hop.png
Crystal structure of Human Filamin A, 3hop

Template:STRUCTURE 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 [1]. Two phosphate ions are rendered as space filling objects.

Filamin AFilamin A

3isw – hFLNA repeat 21+CFTR peptide – human
2wfn, 3hop, 3hor – hFLNA ABD
3hoc – hFLNA ABD (mutant)


FunctionFunction

[2]

Interactions with other proteinsInteractions with other proteins

Xin directly binds the EVH1 domain proteins Mena and VASP <ref name="pmid16631741">.




Clinical significanceClinical significance

1wlh, 1qfh – FLN rod domain – Dictyostelium discoideum

ReferencesReferences

  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. 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


ReferencesReferences


http://www.uniprot.org/uniprot/Q702N8