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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
UFSP1 - UFM1 Specific Peptidase 1 (inactive)
Alias:
UFSP
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个与其它Ufm1特异性的蛋白酶相似的蛋白质。在老鼠中的研究表明,Ufsp1可以释放与其结合的泛素模体1,使其成为活性形式。然而,由于人类UFSP1蛋白的N端较短,并缺乏保守的Cys活性位点,因此预测其功能将无效。[由RefSeq,2009年11月提供]
Related ID:
NCBI:402682
ENSEMBL:ENSG00000176125
HGNC:33821
UNIPROT:Q6NVU6
OMIM:611481
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
402682
1
1
995 bp
15.06
16
--
--
5
UFSP1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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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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References Literature
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