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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
XBP1 - X-box Binding Protein 1
Alias:
XBP2
TREB5
XBP-1
TREB-5
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个转录因子,通过结合称为X盒的启动子元件来调节MHC类II基因。这个基因产物是一种bZIP蛋白,也被鉴定为一种结合T细胞白血病病毒1型启动子增强子的细胞转录因子。它可能通过作为病毒转激活子的DNA结合伙伴来增加病毒蛋白的表达。已经发现,在内质网(ER)中未折叠蛋白积累时,这个基因的mRNA通过一个由内切酶所需肌醇酶1(IRE1)介导的非常规剪接机制被加工成活性形式。剪接后的mRNA中缺失26个核苷酸导致框架转移,产生异构体XBP1(S),这是一种功能活性转录因子。未剪接mRNA编码的异构体XBP1(U)组成性表达,被认为在ER应激恢复阶段通过关闭目标基因的转录来作为XBP1(S)的负反馈调节因子发挥作用。已经发现XBP1的一个假基因,并定位在染色体5上。[由RefSeq,2008年7月提供]
Related ID:
NCBI:7494
ENSEMBL:ENSG00000100219
HGNC:12801
UNIPROT:P17861
OMIM:194355
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7494
4
6
6010 bp
28.70
13
1
13
31
XBP1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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