Rabbit anti-Human PUS1 Polyclonal Antibody

Uniprot Id

Q9Y606

Target Species

Human

Target Name

PUS1

Target Full Name

Pseudouridylate synthase 1 homolog

Target Function

Converts specific uridines to PSI in a number of tRNA substrates. Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA. Involved in regulation of nuclear receptor activity through pseudouridylation of SRA1 RNA.

Target Involvement

Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1)

Target Subcellular Location

[Isoform 1]: Mitochondrion.; [Isoform 2]: Nucleus.

Target Protein Families

TRNA pseudouridine synthase TruA family

Target Tissue Specificity

Widely expressed. High levels of expression found in brain and skeletal muscle.

Target Synonyms

A730013B20Rik; DOBI; MGC112655; MGC11268; MLASA; MLASA1; mPus1p; Pseudouridine synthase 1; Pseudouridylate synthase 1; PUS1; tRNA pseudouridine synthase A, mitochondrial; tRNA pseudouridine(38-40) synthase; tRNA pseudouridylate synthase I; tRNA uridine isomerase I; tRNA-uridine isomerase I; TRUA_HUMAN

Target Background

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.