Pseudouridylate Synthase 1 (PUS1) Antibody – Rabbit Polyclonal

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]

PUS1: 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 possibly through pseudouridylation of SRA1 RNA. Defects in PUS1 are a cause of myopathy with lactic acidosis and sideroblastic anemia type 1 (MLASA1); also known as mitochondrial myopathy and sideroblastic anemia. MLASA is a rare autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Belongs to the tRNA pseudouridine synthase TruA family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Transcription, coactivator/corepressor; EC 5.4.99.12; Isomerase; RNA-binding; Nuclear receptor co-regulator; RNA processing

Chromosomal Location of Human Ortholog: 12q24.33

Cellular Component: transcription factor complex; mitochondrion; nuclear chromatin; nucleolus; nucleus

Molecular Function: ligand-dependent nuclear receptor transcription coactivator activity; pseudouridine synthase activity; pseudouridylate synthase activity

Biological Process: tRNA pseudouridine synthesis; positive regulation of transcription from RNA polymerase II promoter

Disease: Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1