obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
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From NCBI 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]
Structural component of striated muscles which plays a role in myofibrillogenesis. Probably involved in the assembly of myosin into sarcomeric A bands in striated muscle (PubMed:11448995, PubMed:16205939). Has serine/threonine protein kinase activity and phosphorylates N-cadherin CDH2 and sodium/potassium-transporting ATPase subunit ATP1B1.
- Atlas of Genetics and Cytogenetics in Oncology and Haematology
- HGNC Gene Family: Fibronectin type III domain containing
- HGNC Gene Family: I-set domain containing
- HGNC Gene Family: Myosin light chain kinase family
- HGNC Gene Family: Rho guanine nucleotide exchange factors
- HGNC Gene Symbol Report
- Monarch Initiative
- NCBI Gene