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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
MDC1 - Mediator Of DNA Damage Checkpoint 1
Alias:
NFBD1
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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含有N端翼状域,两个BRCA1 C端(BRCT)基序和中央结构域,具有13个重复的约41个氨基酸序列。该编码蛋白质是激活S期内和G2/M期细胞周期检查点所必需的,以响应DNA损伤。这种核蛋白通过其BRCT基序与DNA双链断裂附近的磷酸化组蛋白H2AX相互作用,并促进ATM激酶和减数分裂重组11蛋白复合物招募到DNA损伤焦点。[由RefSeq,2008年7月提供]
Related ID:
NCBI:9656
ENSEMBL:ENSG00000137337
HGNC:21163
UNIPROT:Q14676
OMIM:607593
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9656
18
15
17475 bp
226.67
80
--
4
45
MDC1 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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Residues
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
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IF
No Data Found!
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