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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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HUWE1 - HECT, UBA And WWE Domain Containing E3 Ubiquitin Protein Ligase 1
Alias:
MULE
Ib772
LASU1
MRXST
UREB1
HECTH9
URE-B1
ARF-BP1
HSPC272
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个含有C端HECT(E6AP型E3泛素蛋白连接酶)结构域的蛋白质,作为E3泛素连接酶发挥作用。编码的蛋白质对于抗凋亡蛋白Mcl1(髓样细胞白血病序列1(BCL2相关))的泛素化和后续降解是必需的。该蛋白质还可以泛素化p53肿瘤抑制子、核心组蛋白和DNA聚合酶β。这个基因的突变与Turner型X连锁综合征性认知残疾有关。[RefSeq,2013年8月提供]
Related ID:
NCBI:10075
ENSEMBL:ENSG00000086758
HGNC:30892
UNIPROT:Q7Z6Z7
OMIM:300697
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10075
50
84
154624 bp
481.89
1118
5
9
40
HUWE1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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References Literature
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