2022年3月10日 · HNRNPU-related neurodevelopmental disorder (HNRNPU-NDD) is characterized by developmental delay and intellectual disability – typically moderate to severe – with speech and language delay and/or absent speech. Affected individuals may also display autistic features.

2024年12月25日 · HNRNPU (Heterogeneous Nuclear Ribonucleoprotein U) is a Protein Coding gene. Diseases associated with HNRNPU include Developmental And Epileptic Encephalopathy 54 and Mitochondrial Complex Iv Deficiency, Nuclear Type 11 .

2022年7月21日 · HNRNPU encodes the heterogeneous nuclear ribonucleoprotein U, which participates in RNA splicing and chromatin organization. Microdeletions in the 1q44 locus...

51810 Ensembl ENSG00000153187 ENSMUSG00000039630 UniProt Q00839 Q5RI18 Q8VEK3 RefSeq (mRNA) NM_004501 NM_031844 NM_016805 RefSeq (protein) NP_004492 NP_114032 NP_058085 Location (UCSC) Chr 1: 244.84 – 244.86 Mb n/a PubMed search Wikidata View/Edit Human View/Edit Mouse Heterogeneous nuclear ribonucleoprotein U is a protein that in humans is encoded by the HNRNPU gene. Function This gene ...

2023年6月6日 · HNRNPU-related disorder is a rare neurodevelopmental disorder (RNDD) characterized by seizures, early onset epilepsy, low muscle tone (hypotonia), autistic features and intellectual disability. This condition is caused by changes (variants or mutations) in the HNRNPU gene. View Full Report Show Less; Print / Download as PDF; Next section >

该项研究系统解析了HNRNPU对染色质高级结构的全局调控功能，并暗示核基质对3D基因组的普遍性组织作用，为揭示高级结构染色质形成及维持的分子机制提供了新依据。 文波研究员为本文通讯作者，博士生范辉和吕品为共同第一作者，霍香如、王千凤等同学协助完成。 本研究还得到复旦大学刘赟、汤其群、张锋，上海师范大学郑小琪、Emory University吴浩等课题组的协助。...

RNA-binding protein hnRNPU regulates multiple myeloma resistance to selinexor. circ-hnRNPU inhibits NONO-mediated c-Myc transactivation and mRNA stabilization essential for glycosylation and cancer progression. Deficiency of the Heterogeneous Nuclear Ribonucleoprotein U locus leads to delayed hindbrain neurogenesis.

该基因编码一个蛋白质家族的成员，该蛋白质家族结合核酸并在细胞核中与异质核 RNA (hnRNA) 形成核糖核蛋白复合物。 编码的蛋白质对 RNA 和 DNA 均具有亲和力，并结合支架附着区 (SAR) DNA。 该基因的突变与 54 岁婴儿早期癫痫性脑病有关。 已在 14 号染色体上鉴定出该基因的假基因。 [RefSeq 提供，2017 年 6 月]

2025年1月4日 · The splicing regulatory factor hnRNPU is a novel transcriptional target of c-Myc in hepatocellular carcinoma. HNRNPU promotes the progression of triple-negative breast cancer via RNA transcription and alternative splicing mechanisms. Han BY, Liu Z, Hu X, Ling HHan BY, et al. Cell Death Dis, 2022 Nov 8. PMID 36347834.

2022年7月22日 · HNRNPU encodes the heterogeneous nuclear ribonucleoprotein U, which participates in RNA splicing and chromatin organization. Microdeletions in the 1q44 locus encompassing HNRNPU and other genes and point mutations in HNRNPU cause brain disorders, including early-onset seizures and severe intellectua …