Entrez gene ID | | 84033 |
Official gene symbol | | OBSCN |
Full name | | obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF |
Aliases | | ,ARHGEF30,DKFZp666E245,FLJ14124,KIAA1556,KIAA1639,MGC120409,MGC120410,MGC120411,MGC120412,MGC138590,UNC89, |
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] |
Location | | Chromosome: 1 Locus: 1q42.13 |
Gene position | | 228395861 - 228566575 Map Viewer |
Gene orientation | | plus |
Gene size | | 170715 bp |
Gene sequence |
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OMIM ID | | 608616 |
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