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Malignant cells were in most cases weakly stained or negative. Several urothelial and liver cancers as well as a few cases of cervical and pancreatic cancers were moderated stained.
GENE INFORMATION
Gene name
OBSCN (HGNC Symbol)
Synonyms
ARHGEF30, KIAA1556, KIAA1639, UNC89
Description
Obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (HGNC Symbol)
Entrez gene summary
The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Enzymes ENZYME proteins Transferases Kinases CAMK Ser/Thr protein kinases Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014)
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GO:0004674 [protein serine/threonine kinase activity] GO:0005089 [Rho guanyl-nucleotide exchange factor activity] GO:0005515 [protein binding] GO:0005516 [calmodulin binding] GO:0005524 [ATP binding] GO:0005829 [cytosol] GO:0006468 [protein phosphorylation] GO:0007264 [small GTPase mediated signal transduction] GO:0007275 [multicellular organismal development] GO:0008307 [structural constituent of muscle] GO:0030016 [myofibril] GO:0030018 [Z disc] GO:0030506 [ankyrin binding] GO:0031430 [M band] GO:0031432 [titin binding] GO:0035023 [regulation of Rho protein signal transduction] GO:0036309 [protein localization to M-band] GO:0043065 [positive regulation of apoptotic process] GO:0043547 [positive regulation of GTPase activity] GO:0045214 [sarcomere organization] GO:0046872 [metal ion binding] GO:0048011 [neurotrophin TRK receptor signaling pathway] GO:0051056 [regulation of small GTPase mediated signal transduction] GO:0097190 [apoptotic signaling pathway] GO:0098779 [mitophagy in response to mitochondrial depolarization]
