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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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人类
TRAF6 - TNF Receptor Associated Factor 6
Alias:
RNF85
MGC:3310
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是TNF受体相关因子(TRAF)蛋白家族的成员。TRAF蛋白与TNF受体超家族的成员结合并调节其信号传导。这个蛋白质具有氨基端的RING结构域,后面跟着四个锌指基序,中央的螺旋区以及高度保守的羧基端结构域,称为TRAF-C结构域,可以调节TNF受体超家族成员以及Toll/IL-1家族的信号传导。已证实CD40、TNFSF11/RANCE和IL-1等受体的信号传导是通过这个蛋白质进行的。这个蛋白质还与各种蛋白激酶相互作用,包括IRAK1/IRAK、SRC和PKCzeta,从而在不同的信号传导途径之间建立联系。这个蛋白质在NF-kappaB途径中作为信号传导分子,可以激活IkappaB激酶(IKK)以应对促炎细胞因子。已发现这个蛋白质与UBE2N/UBC13和UBE2V1/UEV1A相互作用,它们是催化多聚泛素链形成的泛素结合酶,这对于这个蛋白质激活IKK是必需的。这个蛋白质还与转化生长因子(TGF)β受体复合物相互作用,并且对于Smad非依赖的JNK和p38激酶激活是必需的。这个基因编码的蛋白质是抗病毒先天免疫和抗原特异性免疫反应的关键分子。[RefSeq,2021年11月提供]
Related ID:
NCBI:7189
ENSEMBL:ENSG00000175104
HGNC:12036
UNIPROT:Q9Y4K3
OMIM:602355
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
7189
2
7
26504 bp
59.57
14
1
11
68
TRAF6 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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