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ATN1 P54259

萎缩蛋白-1 (齿状核红核苍白球路易体萎缩蛋白)

蛋白质信息 (UniProt)

萎缩蛋白-1 (齿状核红核苍白球路易体萎缩蛋白)

P54259

功能描述

转录共阻遏蛋白。募集NR2E1以抑制转录。促进血管平滑肌细胞(VSMC)迁移和定向(By similarity)。MTG8转录抑制的共阻遏蛋白。具有一些内在抑制活性,该活性不依赖于多聚谷氨酰胺(polyQ)重复序列的数量。 {ECO:0000250|UniProtKB:O35126, ECO:0000269|PubMed:10085113, ECO:0000269|PubMed:10973986}。

组织特异性

Widely expressed in various tissues including heart, lung, kidney, ovary, testis, prostate, placenta, skeletal Low levels in the liver, thymus and leukocytes. In the adult brain, broadly expressed in amygdala, caudate nucleus, corpus callosum, hippocampus, hypothalamus, substantia nigra, subthalamic nucleus, and thalamus. High levels in fetal tissues, especially brain.

亚细胞定位

Nucleus. Cytoplasm, perinuclear region. Cell junction

关键词

Acetylation Cell junction Cytoplasm Disease variant Epilepsy Intellectual disability Isopeptide bond Methylation Neurodegeneration Nucleus