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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
SNIP1 - Smad Nuclear Interacting Protein 1
Alias:
PML1
PMRED
NEDHCS
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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
这个基因编码一个含有螺旋-螺旋结构域和C末端叉头相关(FHA)域的蛋白质。编码的蛋白质作为转录共激活剂,增加c-Myc活性并抑制转化生长因子β(TGF-β)和核因子κB(NF-κB)信号通路。编码的蛋白质还调节周期蛋白D1mRNA的稳定性,可能在细胞增殖和癌症进展中发挥作用。这个基因的突变是精神运动迟缓、癫痫和颅面畸形(PMRED)的原因。[由RefSeq提供,2012年3月]
Related ID:
NCBI:79753
ENSEMBL:ENSG00000163877
HGNC:30587
UNIPROT:Q8TAD8
OMIM:608241
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
79753
1
4
19845 bp
45.78
168
2
4
26
SNIP1 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
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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