PUS1

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)
End	131,945,896 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	110,928,525 bp
RNA expression pattern
	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
	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
	80324
	56361
	ENSG00000177192
	ENSMUSG00000029507
	Q9Y606
	Q9WU56
	NM_001002019; NM_001002020; NM_025215
NM_001025561; NM_001025562; NM_019700; NM_001347390; NM_001359218;
	NM_001359219
	NP_001002019; NP_001002020; NP_079491
NP_001020732; NP_001020733; NP_001334319; NP_062674; NP_001346147;
	NP_001346148
	Wikidata
View/Edit Human	View/Edit Mouse

tRNA pseudouridine synthase A is an enzyme that in humans is encoded by the PUS1 gene.

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]. The mutations in PUS1 gene has been linked to mitochondrial myopathy and sideroblastic anemia.