人 PUS1 (NM_001002020) cDNA克隆

Accession: NM_001002020
基因名称: PUS1
基因别名: MLASA1
基因描述: Homo sapiens pseudouridylate synthase 1 (PUS1), transcript variant 3, mRNA.
种属: Human
CDS区长度: 1200 (查看编码区序列)
翻译后氨基酸长度: 399 (查看氨基酸序列)
Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same isoform (2).
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G165666 人 PUS1 (NM_001002020) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]