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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
IARS1 - Isoleucyl-tRNA Synthetase 1
Alias:
IRS
IARS
ILRS
ILERS
GRIDHH
PRO0785
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
氨基酸-tRNA合成酶通过其相应的氨基酸催化tRNA的氨基酸化。由于其在将氨基酸与tRNA中的核苷酸三联体连接起来的核心作用,氨基酸-tRNA合成酶被认为是进化中最早出现的蛋白质之一。异亮氨酸-tRNA合成酶属于I类氨基酸-tRNA合成酶家族,已被鉴定为自身免疫性疾病多发性肌炎/皮肌炎的自身抗体靶点。已经发现了可变剪接的转录变异体。[RefSeq, Nov 2012提供]
Related ID:
NCBI:3376
ENSEMBL:ENSG00000196305
HGNC:5330
UNIPROT:P41252
OMIM:600709
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3376
21
34
83491 bp
144.50
240
1
5
18
IARS1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Alphabetical
Cell-specific RNA expression
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Type
Name
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Mutations
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Status
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Link
No data available
References Literature
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IF
No Data Found!
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