ARX Q96QS3

同源盒蛋白 ARX (无芒相关同源盒)

功能描述

转录因子 (PubMed:22194193, PubMed:31691806)。结合靶基因调控元件中的特定序列基序 5'-TAATTA-3'，例如组蛋白去甲基化酶 KDM5C (PubMed:22194193, PubMed:31691806)。正向调节 KDM5C 的转录 (PubMed:31691806)。与组蛋白赖氨酸去甲基化酶 PHF8 协同激活 KDM5C 的表达，并可能与转录调节因子 ZNF711 竞争；这种协同作用可能与调控元件中组蛋白 H3K4me3 的富集有关 (PubMed:31691806)。正常大脑发育所必需 (PubMed:11889467, PubMed:12379852, PubMed:14722918)。在胚胎前脑的神经元增殖、中间神经元迁移和分化中发挥作用 (By similarity)。可能也参与底板中的轴突导向 (By similarity)。 {ECO:0000250|UniProtKB:O35085, ECO:0000269|PubMed:11889467, ECO:0000269|PubMed:12379852, ECO:0000269|PubMed:14722918, ECO:0000269|PubMed:22194193, ECO:0000269|PubMed:31691806}。

组织特异性

Expressed predominantly in fetal and adult brain and skeletal muscle. Expression is specific to the telencephalon and ventral thalamus. There is an absence of expression in the cerebellum throughout development and also in adult.

亚细胞定位

Nucleus