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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
AARS1 - Alanyl-tRNA Synthetase 1
Alias:
AARS
TTD8
CMT2N
DEE29
HDLS2
EIEE29
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
人类丙氨酸-tRNA合成酶(AARS)属于tRNA合成酶家族,属于II类酶。II类tRNA合成酶在进化过程中早期演化且高度保守。这体现在968个残基的polypeptide人类AARS与大肠杆菌蛋白质有41%的相似性。tRNA合成酶是解释RNA密码并将特定氨基酸连接到含有相应三核苷酸反密码子的tRNA上的酶。它们由与tRNA的氨基酸受体-T psi C螺旋相互作用的催化域组成,以及一个与tRNA结构的其他部分相互作用的第二域。[由RefSeq,2008年7月提供]
Related ID:
NCBI:16
ENSEMBL:ENSG00000090861
HGNC:20
UNIPROT:P49588
OMIM:601065
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
16
2
21
37209 bp
106.81
1128
8
6
28
AARS1 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)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
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Type
Name
MGI
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No data available
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CAS Number
Status
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Link
No data available
References Literature
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Year
IF
No Data Found!
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