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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
HERPUD1 - Homocysteine Inducible ER Protein With Ubiquitin Like Domain 1
Alias:
SUP
HERP
Mif1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
内质网(ER)中未折叠蛋白的积累触发内质网应激反应。这一反应包括抑制翻译以防止未折叠蛋白的进一步积累,增加参与多肽折叠的蛋白质的表达,即未折叠蛋白反应(UPR),以及通过内质网相关蛋白降解(ERAD)系统破坏错误折叠的蛋白质。该基因可能在UPR和ERAD中发挥作用。其表达受UPR的诱导,其启动子区域具有内质网应激反应元件,而编码的蛋白质具有N端泛素样结构域,可能与ERAD系统相互作用。该蛋白质已被证明与早老素蛋白相互作用,并在其过度表达后增加淀粉样β蛋白的水平。该基因的可变剪接产生多种转录变异体,编码不同的异构体。所有转录变异体的完整长度尚未确定。[RefSeq,2013年1月提供]
Related ID:
NCBI:9709
ENSEMBL:ENSG00000051108
HGNC:13744
UNIPROT:Q15011
OMIM:608070
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9709
3
8
12723 bp
43.72
4
1
4
18
HERPUD1 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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Name
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References Literature
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