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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
QARS1 - Glutaminyl-tRNA Synthetase 1
Alias:
QARS
GLNRS
MSCCA
PRO2195
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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。由于它们在将氨基酸与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。在动物中,9种特定的氨基酸-tRNA合成酶与多酶复合物内的7种其他氨基酸相关联。尽管在真核生物中存在,但谷氨酰胺-tRNA合成酶(QARS)在许多原核生物、线粒体和叶绿体中缺失,其中Gln-tRNA(Gln)是通过错酰化的Glu-tRNA(Gln)的跨酰胺化形成的。谷氨酰胺-tRNA合成酶属于I类氨基酸-tRNA合成酶家族。可变剪接导致多个转录变异体。[RefSeq,2013年1月提供]
Related ID:
NCBI:5859
ENSEMBL:ENSG00000172053
HGNC:9751
UNIPROT:P47897
OMIM:603727
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5859
3
24
8826 bp
87.80
822
2
3
19
QARS1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
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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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Type
Name
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CAS Number
Status
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Link
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References Literature
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