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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
PPP1R8 - Protein Phosphatase 1 Regulatory Subunit 8
Alias:
ARD1
ARD-1
NIPP1
NIPP-1
PRO2047
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因通过可变剪接编码三个不同的同源异型体。这个基因编码的两个蛋白质同源异型体是类型1丝氨酸/苏氨酸蛋白磷酸酶的特异性抑制剂,可以结合但不能切割RNA。第三个蛋白质同源异型体缺乏磷酸酶抑制功能,但是一种与大肠杆菌E. coli的RNase E相当的单链内切核酸酶。这个同源异型体需要镁离子才能发挥功能,并切割A+U丰富的RNA中的特定位点。[由RefSeq提供,2008年7月]
Related ID:
NCBI:5511
ENSEMBL:ENSG00000117751
HGNC:9296
UNIPROT:Q12972
OMIM:602636
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5511
3
7
20895 bp
38.48
8
--
3
24
PPP1R8 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
Mechanism
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Residues
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
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Journal
Year
IF
No Data Found!
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