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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
UHRF1 - Ubiquitin Like With PHD And Ring Finger Domains 1
Alias:
Np95
hNP95
ICBP90
RNF106
TDRD22
hUHRF1
huNp95
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个RING-手指型E3泛素连接酶亚家族成员。该蛋白结合特定的DNA序列,并招募一个组蛋白去乙酰化酶来调节基因表达。其表达在细胞周期的G1晚期达到高峰,并在G2和M阶段持续。它在G1/S转换中起着主要作用,通过调节拓扑异构酶IIalpha和视网膜母细胞基因表达,并在p53依赖的DNA损伤检查点中发挥作用。被认为是一个整合表观遗传信息的枢纽蛋白。这个基因在各种癌症中上调,因此被认为是一个治疗靶标。已经发现这个基因的多个转录变异体编码不同的异构体。在这个基因上存在一个相关的假基因,位于染色体12上。[RefSeq,2014年2月提供]
Related ID:
NCBI:29128
ENSEMBL:ENSG00000276043
HGNC:12556
UNIPROT:Q96T88
OMIM:607990
Basic Information
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29128
9
17
59075 bp
89.81
20
--
9
47
UHRF1 Genetics information (+)
GRCh38
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* This data comes from NCBI.
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