PUS1

tRNA pseudouridine synthase A is an enzyme that in humans is encoded by the PUS1 gene.^[5][6]

PUS1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4IQM, 4ITS, 4J37, 4NZ6, 4NZ7
Identifiers
Aliases	PUS1, MLASA1, pseudouridylate synthase 1, pseudouridine synthase 1
External IDs	OMIM: 608109; MGI: 1929237; HomoloGene: 5931; GeneCards: PUS1; OMA:PUS1 - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q24.33 Start 131,929,200 bp[1] End 131,945,896 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 F Start 110,921,533 bp[2] End 110,928,525 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte mucosa of transverse colon right lobe of liver gonad spleen right adrenal gland left adrenal gland body of pancreas left adrenal cortex right adrenal cortex Top expressed in yolk sac primitive streak right kidney proximal tubule endothelial cell of lymphatic vessel seminal vesicula epiblast embryo ventricular zone lip More reference expression data BioGPS More reference expression data
Gene ontology Molecular function pseudouridylate synthase activity isomerase activity RNA binding pseudouridine synthase activity tRNA binding steroid receptor RNA activator RNA binding tRNA pseudouridine synthase activity Cellular component mitochondrial matrix mitochondrion nucleus Biological process RNA modification pseudouridine synthesis tRNA processing mitochondrial tRNA pseudouridine synthesis tRNA pseudouridine synthesis mRNA pseudouridine synthesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 80324 56361 Ensembl ENSG00000177192 ENSMUSG00000029507 UniProt Q9Y606 Q9WU56 RefSeq (mRNA) NM_001002019 NM_001002020 NM_025215 NM_001025561 NM_001025562 NM_019700 NM_001347390 NM_001359218 NM_001359219 RefSeq (protein) NP_001002019 NP_001002020 NP_079491 NP_001020732 NP_001020733 NP_001334319 NP_062674 NP_001346147 NP_001346148 Location (UCSC) Chr 12: 131.93 – 131.95 Mb Chr 5: 110.92 – 110.93 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

PUS1 converts uridine into pseudouridine after the nucleotide has been incorporated into RNA. Pseudouridine may have a functional role in tRNAs and may assist in the peptidyl transfer reaction of rRNAs.[supplied by OMIM].^[6] The mutations in PUS1 gene has been linked to mitochondrial myopathy and sideroblastic anemia.^[7][8]

See also

• Pseudouridine kinase
• Mitochondrial tRNA pseudouridine27/28 synthase
• TRNA pseudouridine38/39 synthase
• TRNA pseudouridine32 synthase