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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
USP14 - Ubiquitin Specific Peptidase 14
Alias:
TGT
Ubp6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码泛素特异性加工(UBP)家族中的一种蛋白酶,它是一种去泛素化酶(DUB),具有His和Cys结构域。这种蛋白质位于细胞质中,从泛素连接的前体和泛素化蛋白质上切割泛素部分。小鼠中一种导致此蛋白的直向同源物的表达减少的突变导致生长迟缓,在2到3周龄时出现严重颤抖,随后在6到10周龄时出现后肢瘫痪和死亡。已经表征了编码不同异型体的替代转录剪接变体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:9097
ENSEMBL:ENSG00000101557
HGNC:12612
UNIPROT:P54578
OMIM:607274
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9097
2
16
56073 bp
56.07
21
--
6
20
USP14 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
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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
PMID
Journal
Year
IF
No Data Found!
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