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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
DERL1 - Derlin 1
Alias:
DER1
DER-1
derlin-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
这个基因编码的蛋白质是derlin家族的一员。这个家族的成员参与内质网相关降解反应,将错误折叠或未折叠的蛋白质从内质网腔返回到细胞质中,以便在蛋白酶体中降解。这个蛋白质在内质网中识别底物,并在一个复合物中工作,将其跨内质网膜返回到细胞质中。这个蛋白质可能选择囊性纤维化跨膜传导调节蛋白(CFTR)进行降解,以及阿尔茨海默病中的未折叠蛋白质。可变剪接导致多个转录变异体,它们编码不同的蛋白质异构体。[由RefSeq,2012年8月提供]
Related ID:
NCBI:79139
ENSEMBL:ENSG00000136986
HGNC:28454
UNIPROT:Q9BUN8
OMIM:608813
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
79139
4
8
29133 bp
28.80
11
--
4
28
DERL1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Type
Name
MGI
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
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References Literature
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