蒙脱石基因跨越150 kb以上,含有超过80个外显子,编码约720 kDa的蛋白质。编码蛋白包含68个ig结构域、2个纤维连接蛋白结构域、1个钙/钙调素结合结构域、1个rhogef结构域和2个丝氨酸苏氨酸激酶结构域。该蛋白属于包括Titin和Nebulin在内的巨大骶节信号蛋白家族,可能在肌原纤维的组装过程中起作用,并可能介导肌浆网和肌原纤维之间的相互作用。另外,还发现了编码不同亚型的剪接转录变体。[由RefSeq提供,2008年7月]
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]
基因名: | OBSCN |
别名: | UNC89,ARHGEF30 |
基因ID: | 84033 |
Chromosome: (GRCh37) | 1 Start: 228395740 End: 228566577 Strand: |
信号通路: |