Recombinant Human Obscurin (OBSCN), Truncated

Uniprot Id

Q5VST9

Target Species

Human

Target Name

OBSCN

Target Full Name

Obscurin

Target Function

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. Has serine/threonine protein kinase activity and phosphorylates N-cadherin CDH2 and sodium/potassium-transporting ATPase subunit ATP1B1. Binds (via the PH domain) strongly to phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) and phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), and to a lesser extent to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4-phosphate (PtdIns(4)P), phosphatidylinositol 5-phosphate (PtdIns(5)P) and phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3).

Target Involvement

A chromosomal aberration involving OBSCN has been found in Wilms tumor. Translocation t(1;7)(q42;p15) with PTHB1.

Target Subcellular Location

[Isoform 3]: Cytoplasm, myofibril, sarcomere, M line. Cytoplasm, myofibril, sarcomere, Z line.

Target Protein Families

Protein kinase superfamily, CAMK Ser/Thr protein kinase family

Target Synonyms

BC046431; Gm878; KIAA1556; KIAA1639; OBSCN; OBSCN_HUMAN; Obscurin; Obscurin-MLCK; Obscurin-myosin light chain kinase; Obscurin-RhoGEF; OTTMUSG00000005786; UNC89

Target Background

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.