UACA - uveal autoantigen with coiled-coil domains and ankyrin repeats Gene

中文名称：具有卷曲螺旋结构域和锚蛋白重复序列的葡萄膜自身抗原

种属: Homo sapiens

同用名: NUCLING

关于 UACA

功能概要

该基因编码的蛋白质包含锚蛋白重复序列和卷曲螺旋结构域，可能在细胞凋亡中发挥作用。对啮齿动物的研究表明编码的蛋白质参与细胞凋亡的刺激和乳腺退化的调节，其中乳腺恢复到其孕前状态。根据人类细胞系中的实验，该蛋白质也被提议负向调节细胞凋亡，其中该蛋白质显示与 PRKC 细胞凋亡 WT1 调节蛋白 (也称为 PAR-4) 相互作用，并抑制 PAR-4 受体的易位。已经在患有全葡萄膜炎和格雷夫斯病的人类患者中鉴定出针对这种蛋白质的自身抗体。已在多种人类癌症中观察到该基因的差异表达。[RefSeq 提供，2017 年 5 月]

This gene encodes a protein that contains ankyrin repeats and coiled coil domains and likely plays a role in Apoptosis. Studies in rodents have implicated the encoded protein in the stimulation of Apoptosis and the regulation of mammary gland involution, in which the mammary gland returns to its pre-pregnant state. This protein has also been proposed to negatively regulate Apoptosis based on experiments in human cell lines in which the protein was shown to interact with PRKC Apoptosis WT1 regulator protein, also known as PAR-4, and inhibit translocation of the PAR-4 receptor. Autoantibodies to this protein have been identified in human patients with panuveitis and Graves' disease. Differential expression of this gene has been observed in various human cancers. [provided by RefSeq, May 2017]