Group:MUZIC:XIN: Difference between revisions
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== Sequence Annotation == | == Sequence Annotation == | ||
[[Image:Xin.jpg]] | |||
Revision as of 02:53, 12 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. Intraexogic splicing leads to a least three different isoforms.
Sequence AnnotationSequence Annotation
FunctionFunction
Interactions with other proteins/Function FunctionInteractions with other proteins/Function Function
Xin and Mena/VASP colocalize with filamin c in [intercalated discs][1](ICD, structure at the end of the myocytes that transduce force from the myofibrils via the cell membranes to the extracelluar matrix and neighboring cells) in the adult heart.
Xin directly binds the EVH1 domain proteins Mena and VASP <ref name="pmid16631741">. Xin binds the unique insertion containing Ig domain 20. Xin directly binds F-actin <ref name="pmid15454575">.
hhhh [ aaaa http://en.wikipedia.org/wiki/Intercalated_disc]
Clinical significanceClinical significance
1wlh, 1qfh – FLN rod domain – Dictyostelium discoideum
ReferencesReferences
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