RFX7 Q2KHR2

DNA结合蛋白RFX7 (调节因子X 7) (含调节因子X结构域蛋白2)

蛋白质信息 (UniProt)

DNA结合蛋白RFX7 (调节因子X 7) (含调节因子X结构域蛋白2)

Q2KHR2

功能描述

转录因子 (PubMed:29967452)。通过结合靶基因（如PDCD4、PIK3IP1、MXD4、PNRC1和RFX5）的启动子区域，作为转录激活因子发挥作用 (PubMed:29967452, PubMed:34197623)。在自然杀伤（NK）细胞维持和免疫中发挥作用 (PubMed:29967452)。可能在神经管纤毛发生和神经管闭合过程中发挥作用 (By similarity)。 {ECO:0000250|UniProtKB:A0A1L8H0H2, ECO:0000269|PubMed:29967452, ECO:0000269|PubMed:34197623}。

组织特异性

Widely expressed in many different tissue types including thymus and placenta, with high expression in brain (PubMed:18673564). Expressed in both inhibitory and excitatory neurons in cortex (PubMed:33658631).

亚细胞定位

Nucleus

关键词

3D-structure Acetylation Alternative splicing Autism spectrum disorder Disease variant DNA-binding Intellectual disability Nucleus Phosphoprotein Proteomics identification

外部链接

UniProt: Q2KHR2

NCBI Gene

GeneCards