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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
MKRN1 - Makorin Ring Finger Protein 1
Alias:
RNF61
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种属于新型锌指蛋白类的蛋白质。编码的蛋白质作为转录协同调节因子,并作为一种促进靶蛋白质泛素化和蛋白酶体降解的E3泛素连接酶。这个基因编码的蛋白质被认为可以调节RNA聚合酶II催化的转录。这个蛋白质的E3泛素连接酶活性的底物包括西尼罗病毒衣壳蛋白和端粒酶核糖核蛋白催化亚单位。这个蛋白质通过调节细胞周期调节因子p21和肿瘤抑制蛋白p53来控制细胞周期停滞和凋亡。这个基因的假基因存在于染色体1、3、9、12和20上以及X染色体上。可选剪接导致编码不同异型体的多种转录变异体。[RefSeq,2014年4月提供]
Related ID:
NCBI:23608
ENSEMBL:ENSG00000133606
HGNC:7112
UNIPROT:Q9UHC7
OMIM:607754
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23608
8
8
26537 bp
53.35
14
--
4
11
MKRN1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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References Literature
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