Full name: obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: ARHGEF30; RHABDO1; UNC89

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]

Expression: Broad expression in heart (RPKM 8.6), prostate (RPKM 2.9) and 15 other tissues

Gene size: 170833bp

Exon count: 118