Group:MUZIC:Enigma Family: Difference between revisions

'''Enigma''' protein

alternatively referred to as PDLIM7 (PDZ and LIM domain protein 7) is the first and representative member of the Enigma subfamily. Initially characterized in human as ~49.85 kDa, 457 amino-acid protein with an N-terminal PDZ domain and three C-terminal LIM domains <ref>PMID:7929196</ref> <ref>PMID:10359609</ref>. Five alternatively spliced isoforms are presently identified (UniProtKB ID: Q9NR12)[http://www.uniprot.org/uniprot/Q9NR12#section_features].

==Structure==

domain or additional internal domains (ZM-motif), recruit signaling proteins to implement corresponding functions (see <ref>doi:10.1093/jmcb/mjp038</ref>, and references therein). In addition, experimental evidences indicate Enigma protein may function as a scaffold on which the coordinated assembly of sarcomeric proteins can occur; largely owing to the interactions via its PDZ- and LIM domains with actin-associated proteins of cardiac and skeletal muscle, as well as non-muscle tissues [[<ref>PMID:7929196</ref>]]. It has also been implicated in bone formation and fracture repair<ref>PMID:11874232</ref>. It may also be involved in BMP6 signaling pathway. Generally, it interacts with various PKC isoforms using the LIM domains<ref>PMID:8940095</ref>. The LIM-2 domain has been shown to interact with TBX4, as well as RET in a phosphorylation-independent manner<ref>PMID:9528800</ref>. Despite the co-localization of '''Enigma protein''' with proteins in the Z-line and I-band, a definite functional role in the sarcomere has not

been shown yet<ref>doi:10.1093/jmcb/mjp038</ref>; '''''which resounds the literal meaning of the word Enigma'''.''

==Pathology==