Modomics - A Database of RNA Modifications

Full name: tRNA pseudouridine synthase 1, mitochondrial
GI: 70166645
Orf: PP8985
COG: COG0101
UniProt: Q9Y606
Structures: | 4J37 | 4ITS | 4IQM | 4NZ7 | 4NZ6 |
Enzyme type: pseudouridine synthase
Position of modification - modification: t:28 - Y
t:27 - Y
t:30 - Y
other:236 - Y


Specificity of this enzyme was not studied in details. Most probably it is very similar to the specificity of its yest and mouse homologs. Mitochondrial. Exist in two isoforms. Reduced or no activity of Pus1 is related to mitochondrial myopathy and sideroblastic anemia (MLASA). Can modify the Steroid receptor RNA Activator (SRA).

Protein sequence:


Enzymatic activities:

Reaction Substrate Type Position
U:Y tRNA (t) Lys/∃UU/mitochondrion 27
U:Y tRNA (t) Lys/∃UU/mitochondrion 28
U:Y tRNA (t) Ile/AAU/eukaryotic cytosol 27
U:Y tRNA (t) Ile/AAU/eukaryotic cytosol 30
U:Y tRNA (t) Ser/UGA/eukaryotic cytosol 28
U:Y other (o) SRA//nucleus 236

Diseases connected to this enzyme:

Description Reaction Disease Name
Mutation in PUS1 gene affects an amino acid, that cause a defect in pseudouridylation. Deficient pseudouridylation of mitochondrial tRNAs has been associated to MLASA U:Y
Mitochondrial myopathy and sideroblastic anemia (MLASA)
LAck of modifications in mitochondrial and cytoplasmic tRNAs from MLASA patients at sites normally modified by Pus1p. U:Y
Mitochondrial myopathy and sideroblastic anemia (MLASA)


Title Authors Journal Details PubMed Id DOI
A small RNA derived from RNA coactivator SRA blocks steroid receptor signaling via inhibition of Pus1p-mediated pseudouridylation of SRA: evidence of a novel RNA binding domain in the N-terminus of steroid receptors. Ghosh SK, Patton JR, Spanjaard RA Biochemistry [details] 22998747 -
Pseudouridine synthase 1: a site-specific synthase without strict sequence recognition requirements. Sibert BS, Patton JR Nucleic Acids Res [details] 22102571 -
Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1. Sibert BS, Fischel-Ghodsian N, Patton JR RNA [details] 18648068 -
Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. Patton JR, Bykhovskaya Y, Mengesha E, Bertolotto C, Fischel-Ghodsian N J Biol Chem [details] 15772074 S0021-9258(20)61767-7
In Human Pseudouridine Synthase 1 (hPus1), a C-Terminal Helical Insert Blocks tRNA from Binding in the Same Orientation as in the Pus1 Bacterial Homologue TruA, Consistent with Their Different Target Selectivities. Czudnochowski N, Wang AL, Finer-Moore J, Stroud RM J Mol Biol [details] 23707380 -
Steroid receptor RNA activator (SRA) modification by the human pseudouridine synthase 1 (hPus1p): RNA binding, activity, and atomic model. Huet T, Miannay FA, Patton JR, Thore S... PLoS One [details] 24722331 -



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