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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
SQSTM1 - Sequestosome 1
Alias:
p60
p62
A170
DMRV
OSIL
PDB3
ZIP3
p62B
NADGP
FTDALS3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个结合泛素并调节核因子kappa-B (NF-kB)信号通路活性的多功能蛋白。该蛋白作为支架/适配器蛋白与TNF受体相关因子6协同作用,以响应上游信号来调节NF-kB的激活。已经在这个基因中鉴定出编码相同或不同异构体的可变剪接转录变异体。这个基因的突变导致骨斑疹性熟病和家族性斑疹性熟病。[RefSeq,2009年3月提供]
Related ID:
NCBI:8878
ENSEMBL:ENSG00000161011
HGNC:11280
UNIPROT:Q13501
OMIM:601530
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8878
3
8
31686 bp
47.69
628
12
22
101
SQSTM1 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
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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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