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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
USP8 - Ubiquitin Specific Peptidase 8
Alias:
UBPY
PITA4
SPG59
HumORF8
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种属于泛素特异性加工蛋白酶家族的蛋白质。该编码的蛋白质被认为可以通过对该细胞器上蛋白质的泛素化来调节内质体的形态,并参与早期内质体阶段的货物的分类和膜运输。该蛋白质是细胞进入细胞周期S期所必需的,并在发育过程中作为Hedgehog信号通路中的正调控因子发挥作用。这个基因的假基因存在于染色体2和6上。交替剪接导致多个转录变异体。[RefSeq, 2013年9月提供]
Related ID:
NCBI:9101
ENSEMBL:ENSG00000138592
HGNC:12631
UNIPROT:P40818
OMIM:603158
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9101
3
20
90017 bp
127.52
127
3
4
25
USP8 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
Target
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
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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