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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
UFL1 - UFM1 Specific Ligase 1
Alias:
NLBP
RCAD
Maxer
KIAA0776
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
激活UFM1连接酶活性并具有蛋白质激酶结合活性。参与几个过程,包括细胞蛋白质修饰过程;信号传导的调节;和网食作用。在几个过程的上游或内部发挥作用,包括细胞群增殖的正调控;蛋白酶体泛素依赖性蛋白质分解过程的调节;和对内质网应激的反应。位于内质网膜;核;和双链断裂部位。蛋白质含有复合物的一部分。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:23376
ENSEMBL:ENSG00000014123
HGNC:23039
UNIPROT:O94874
OMIM:613372
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23376
1
19
33471 bp
89.59
32
--
3
24
UFL1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Mutations
No data available
Transcripts & Proteins
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Transcript
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Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Name
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References Literature
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