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中文人类
ERCC1 - ERCC Excision Repair 1, Endonuclease Non-catalytic Subunit
Alias:
UV20
COFS4
RAD10
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这个基因的产物在核苷酸切除修复途径中发挥作用，并且是修复DNA损伤所必需的，例如由紫外线诱导的或由亲电化合物（如顺铂）形成的损伤。编码的蛋白质与XPF核酸内切酶（也称为ERCC4）形成异二聚体，该异二聚核酸内切酶在切除DNA损伤过程中催化5'切割。异二聚核酸内切酶也涉及重组DNA修复和链间交叉链接的修复。这个基因的突变导致脑眼面肌骨综合征，而改变这个基因表达的多态性可能在癌发生中发挥作用。已经发现这个基因的不同转录变异体编码不同的异构体。这个基因的最后外显子与相反链上的CD3e分子相关蛋白基因重叠。[RefSeq提供，2009年10月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ERCC1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
