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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
CHEK1 - Checkpoint Kinase 1
Alias:
CHK1
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Description
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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属于Ser/Thr蛋白激酶家族。它对于响应DNA损伤或未复制DNA存在的检查点调节细胞周期停滞是必需的。这个蛋白质的作用是整合来自ATM和ATR两种参与DNA损伤应答的细胞周期蛋白的信号,它们在减数分裂前期I中也与染色质相关。这个蛋白质对CDC25A蛋白磷酸酶的磷酸化是必需的,以使细胞响应双链DNA断裂而延迟细胞周期进程。已经发现这个基因有几个可变剪接的转录变异体。[由RefSeq,2011年10月提供]
Related ID:
NCBI:1111
ENSEMBL:ENSG00000149554
HGNC:1925
UNIPROT:O14757
OMIM:603078
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1111
11
13
55989 bp
54.43
57
1
10
67
CHEK1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
Detail
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Reference
Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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