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中文人类
HARS1 - Histidyl-tRNA Synthetase 1
Alias:
HRS
HARS
CMT2W
USH3B
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氨基酸tRNA合成酶是一类将tRNA与相应的氨基酸充电的酶。这个基因编码的蛋白质是一种细胞质酶，属于氨基酸tRNA合成酶的II类家族。该酶负责合成组氨酸转移RNA，这对于组氨酸纳入蛋白质中至关重要。该基因位于染色体5上的头对头取向，其中同源基因共享双向启动子。该基因产物是人自身免疫性疾病多发性肌炎/皮肌炎中自身抗体的常见靶标。已经发现该基因的几个转录变异体编码不同的异构体。[由RefSeq，2012年4月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
HARS1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
