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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
UBA3 - Ubiquitin Like Modifier Activating Enzyme 3
Alias:
NAE2
UBE1C
hUBA3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
泛素化是细胞内一种重要的蛋白质修饰机制,用于靶向异常或短寿命蛋白质进行降解。泛素化过程涉及至少三类酶:泛素活化酶(E1),泛素结合酶(E2)和泛素蛋白连接酶(E3)。这个基因编码一个E1泛素活化酶家族的成员。编码的酶与AppBp1(一种与淀粉样前体蛋白结合的蛋白质)结合,形成异源二聚体,然后激活NEDD8(一种调节细胞分裂、信号传导和胚胎发生的泛素样蛋白)。已在这个基因中发现多个可变剪接的转录变异体,编码不同的异构体。[RefSeq,2008年7月提供]
Related ID:
NCBI:9039
ENSEMBL:ENSG00000144744
HGNC:12470
UNIPROT:Q8TBC4
OMIM:603172
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9039
4
18
25644 bp
51.85
7
--
4
14
UBA3 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
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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
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Link
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References Literature
Title
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Journal
Year
IF
No Data Found!
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