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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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人类
PARP1 - Poly(ADP-ribose) Polymerase 1
Alias:
PARP
PARS
PPOL
ADPRT
ARTD1
ADPRT1
PARP-1
ADPRT 1
pADPRT-1
Poly-PARP
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种与染色质相关的酶,多(ADP-核糖)转移酶,通过多(ADP-核糖)化修饰各种核蛋白。这种修饰依赖于DNA,并涉及各种重要的细胞过程,如分化、增殖和肿瘤转化,以及参与细胞从DNA损伤中恢复的分子事件的调节。此外,这种酶可能是Fanconi贫血的突变位点,并可能参与I型糖尿病的病理生理学。[由RefSeq,2008年7月提供]
Related ID:
NCBI:142
ENSEMBL:ENSG00000143799
HGNC:270
UNIPROT:P09874
OMIM:173870
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
142
1
23
47403 bp
113.08
39
--
18
118
PARP1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
Tile View
#
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
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
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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