ANKHD1 - ankyrin repeat and KH domain containing 1 Gene

中文名称：含锚蛋白重复和 KH 域 1

种属: Homo sapiens

同用名: MASK; MASK1; VBARP; PP2500

关于 ANKHD1

功能概要

该基因编码的蛋白质具有多个锚蛋白重复结构域和一个 KH 结构域。该蛋白被认为起脚手架蛋白的作用，它可能参与半胱天冬酶的调节，从而在细胞存活中发挥抗细胞凋亡作用。可变剪接导致多个转录变体，其中一个产生与下游 eIF4E 结合蛋白 3 (EIF4EBP3) 基因的融合转录物 (MASK-BP3) ，从而产生由 ANKHD1 序列组成的蛋白质的大部分蛋白质和一个由于 EIF4EBP3 片段的替代阅读框架，不同的 C 末端。[RefSeq 提供，2010 年 9 月]

This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. The protein is thought to function as a scaffolding protein, and it may be involved in the regulation of caspases and thereby play an antiapoptotic role in cell survival. Alternative splicing results in multiple transcript variants, one of which generates a fusion transcript (MASK-BP3) with the downstream eIF4E-binding protein 3 (EIF4EBP3) gene, resulting in a protein comprised of the ANKHD1 sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Sep 2010]