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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
KDELR1 - KDEL Endoplasmic Reticulum Protein Retention Receptor 1
Alias:
ERD2
HDEL
PM23
ERD2.1
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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)腔内可溶性蛋白质在酵母和动物细胞中的保留是通过从高尔基体或预高尔基体持续回收实现的。这些蛋白质的分类取决于C端四肽信号,动物细胞中通常是lys-asp-glu-leu(KDEL),而酿酒酵母中是his-asp-glu-leu(HDEL)。这个过程是由一个识别并结合含有四肽的蛋白质并将其返回到ER的受体介导的。在酵母中,这个受体是由一个单基因编码的,即ERD2,它是一个七跨膜蛋白。与酵母不同,已经描述了ERD2基因的几个人类同源物,构成了KDEL受体基因家族。此基因编码的蛋白质是家族中第一个被识别的成员,它编码一个在结构上和功能上与酵母ERD2基因产物相似的病毒。[由RefSeq,2008年7月提供]
Related ID:
NCBI:10945
ENSEMBL:ENSG00000105438
HGNC:6304
UNIPROT:P24390
OMIM:131235
Basic Information
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Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
10945
2
5
14838 bp
24.54
6
--
6
11
KDELR1 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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