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MYOC Q99972

肌纤蛋白 (肌纤蛋白 55 kDa 亚基) (小梁网诱导糖皮质激素反应蛋白) [裂解为: 肌纤蛋白, N端片段 (肌纤蛋白 20 kDa N端片段); 肌纤蛋白, C端片段 (肌纤蛋白 35 kDa N端片段)]

蛋白质信息 (UniProt)

肌纤蛋白 (肌纤蛋白 55 kDa 亚基) (小梁网诱导糖皮质激素反应蛋白) [裂解为: 肌纤蛋白, N端片段 (肌纤蛋白 20 kDa N端片段); 肌纤蛋白, C端片段 (肌纤蛋白 35 kDa N端片段)]

Q99972

功能描述

分泌型糖蛋白,调节邻近细胞中不同信号通路的激活,以控制包括细胞粘附、细胞-基质粘附、细胞骨架组织和细胞迁移在内的不同过程。促进底物粘附、铺展和粘着斑的形成。通过Rho蛋白信号转导负向调节细胞-基质粘附和应力纤维组装。通过与Wnt信号通路组分的相互作用,刺激应力纤维的形成,从而调节肌动蛋白细胞骨架的组织。通过激活PTK2和下游磷酸肌醇3-激酶信号传导促进细胞迁移。在骨形成中发挥作用,并通过丝裂原活化蛋白激酶信号传导以剂量依赖性方式促进成骨细胞分化。通过ERBB2/ERBB3信号传导介导周围神经系统的髓鞘形成。通过抗肌萎缩蛋白相关蛋白复合物的组分作为肌肉肥大的调节因子发挥作用。参与线粒体去极化的正调节。在神经突生长中发挥作用。可能参与小梁网中液体流出的阻塞。 {ECO:0000250|UniProtKB:O70624, ECO:0000269|PubMed:17516541, ECO:0000269|PubMed:17984096, ECO:0000269|PubMed:18855004, ECO:0000269|PubMed:19188438, ECO:0000269|PubMed:19959812, ECO:0000269|PubMed:21656515, ECO:0000269|PubMed:23629661, ECO:0000269|PubMed:23897819}.

组织特异性

Detected in aqueous humor (PubMed:12697062). Detected in the eye (at protein level) (PubMed:11431441). Widely expressed. Highly expressed in various types of muscle, ciliary body, papillary sphincter, skeletal muscle, heart, and bone marrow-derived mesenchymal stem cells. Expressed predominantly in the retina. In normal eyes, found in the inner uveal meshwork region and the anterior portion of the meshwork. In contrast, in many glaucomatous eyes, it is found in more regions of the meshwork and seems to be expressed at higher levels than in normal eyes, regardless of the type or clinical severity of glaucoma. The myocilin 35 kDa fragment is detected in aqueous humor and to a lesser extent in iris and ciliary body.

亚细胞定位

Secreted

关键词

3D-structure Calcium Cell projection Cilium Coiled coil Cytoplasmic vesicle Direct protein sequencing Disease variant Disulfide bond Endoplasmic reticulum