NUFIP1 - nuclear FMR1 interacting protein 1 Gene

中文名称：核 FMR1 相互作用蛋白 1

种属: Homo sapiens

同用名: Rsa1; NUFIP; bA540M5.1

关于 NUFIP1

功能概要

该基因编码含有 C2H2 锌指基序和核定位信号的核 RNA 结合蛋白。这种蛋白质与染色质周围原纤维中的核基质相关，并且在神经元中，与内质网核糖体相关联地定位于细胞质。该蛋白与脆性 X 智力低下蛋白 (FMRP) 、肿瘤抑制蛋白 BRCA1 相互作用，上调 RNA 聚合酶 II 转录，并参与 box C/D snoRNP 生物合成。该基因的假基因位于染色体 6q12 上。[RefSeq 提供，2012 年 2 月]

This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization signal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mental retardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and is involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. [provided by RefSeq, Feb 2012]