Aliases for OBSCN Gene
External Ids for OBSCN Gene
Previous GeneCards Identifiers for OBSCN Gene
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]
GeneCards Summary for OBSCN Gene
OBSCN (Obscurin, Cytoskeletal Calmodulin And Titin-Interacting RhoGEF) is a Protein Coding gene. Diseases associated with OBSCN include Fibromuscular Dysplasia and Cerebral Arterial Disease. Among its related pathways are Signaling by GPCR and p75 NTR receptor-mediated signalling. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is ENSG00000283186.
UniProtKB/Swiss-Prot for OBSCN Gene
Involved in myofibrillogenesis. Seems to be involved in assembly of myosin into sarcomeric A bands in striated muscle. Isoform 3 together with ANK1 isoform Mu17/Ank1.5 may provide a molecular link between the sarcoplasmic reticulum and myofibrils.