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EMILIN1 Q9Y6C2

弹力蛋白微原纤维界面定位蛋白1 (Elastin microfibril interface-located protein 1) (Elastin microfibril interfacer 1)

蛋白质信息 (UniProt)

弹力蛋白微原纤维界面定位蛋白1 (Elastin microfibril interface-located protein 1) (Elastin microfibril interfacer 1)

Q9Y6C2

功能描述

参与弹性蛋白和胶原纤维的形成。它是EFEMP2沉积到细胞外基质所必需的,并通过蛋白赖氨酸-6-氧化酶/LOX活性参与胶原网络的组装和交联 (PubMed:36351433)。可能负责将平滑肌细胞锚定到弹性纤维上,并可能参与调节血管组装的过程。具有细胞粘附能力。 {ECO:0000269|PubMed:36351433}。

组织特异性

Distributed in tissues where resilience and elastic recoil are prominent. Highest levels in the adult small intestine, aorta, lung, uterus, and appendix and in the fetal spleen, kidney, lung, and heart; intermediate expression was detected in adult liver, ovary, colon, stomach, lymph node and spleen; adult heart, bladder, prostate, adrenal gland, mammary gland, placenta and kidney showed low expression whereas a series of other adult tissues, including skeletal muscle and different regions of adult brain show no expression. Detected in intramuscular nerve bundles, where it particularly localizes in the epineurium, the most external layer of dense connective tissue enclosing the nerve (PubMed:31978608).

亚细胞定位

Secreted, extracellular space, extracellular matrix

关键词

3D-structure Alternative splicing Cell adhesion Coiled coil Collagen Disease variant Disulfide bond Extracellular matrix Glycoprotein Neurodegeneration