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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
UBE2V1 - Ubiquitin Conjugating Enzyme E2 V1
Alias:
CIR1
UEV1
CROC1
UBE2V
UEV-1
UEV1A
CROC-1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
泛素结合E2酶变异体蛋白质是E2蛋白质家族中的一个独特亚家族。它们与其他泛素结合酶具有序列相似性,但缺乏对E2s催化活性至关重要的保守半胱氨酸残基。此基因编码的蛋白质位于细胞核中,并能引起人类FOS原癌基因的转录激活。据认为,它通过改变细胞周期行为参与分化的控制。已描述了此基因的替代剪接转录变体,它们编码多种异构体。已经发现了此基因的多个假基因。此基因与其相邻的上游基因共同转录,产生了罕见的转录本(Kua-UEV),其编码一个由与每个单独基因产物共享身份的序列组成的融合蛋白。[由RefSeq,2012年4月提供]
Related ID:
NCBI:7335
ENSEMBL:ENSG00000244687
HGNC:12494
UNIPROT:Q13404
OMIM:602995
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7335
17
4
34834 bp
16.50
1
--
--
18
UBE2V1 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)
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CDS(bp)
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Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Name
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CAS Number
Status
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Link
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References Literature
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