人 HARS2 (NM_001278732) cDNA克隆

基本信息

Accession: NM_001278732
基因名称: HARS2
基因别名: HO3; HARSL; HARSR; PRLTS2
基因描述: Homo sapiens histidyl-tRNA synthetase 2, mitochondrial (HARS2), transcript variant 3, mRNA.
种属: Human
CDS区长度: 1089 (查看编码区序列)
翻译后氨基酸长度: 362 (查看氨基酸序列)
Transcript Variant: This variant (3) uses an alternate splice site and lacks two alternate in-frame exons in the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 3, which is shorter than isoform 1. This isoform (3) lacks the transit peptide present in isoforms 1 and 2, hence it is not likely to localize to the mitochondrion.

订购信息

产品编号 产品名称 载体 规格 价格
G113490 人 HARS2 (NM_001278732) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 HARS2 (NM_012208) cDNA克隆 transcript variant 1
人 HARS2 (NM_001278731) cDNA克隆 transcript variant 2
人 HARS2 (NM_001278732) cDNA克隆 transcript variant 3

基因简介

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes likely share a bidirectional promoter. Mutations in this gene are associated with the pathogenesis of Perrault syndrome, which involves ovarian dysgenesis and sensorineural hearing loss. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

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