Group:MUZIC:XIN

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

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

FunctionFunction

^[1]

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

↑ 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

[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

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