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.^[5]^[6]

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]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000177192 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029507 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Chen J, Patton JR (March 1999). "Cloning and characterization of a mammalian pseudouridine synthase". RNA. 5 (3): 409–19. doi:10.1017/S1355838299981591. PMC 1369769. PMID 10094309.
^ ^a ^b "Entrez Gene: PUS1 pseudouridylate synthase 1".
^ Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M (2009). "Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)". BMJ Case Reports. 2009: bcr0520091889. doi:10.1136/bcr.05.2009.1889. PMC 3030164. PMID 21686963.
^ Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N (June 2004). "Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)". American Journal of Human Genetics. 74 (6): 1303–8. doi:10.1086/421530. PMC 1182096. PMID 15108122.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000177192 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000029507 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10094309-5] Chen J, Patton JR (March 1999). "Cloning and characterization of a mammalian pseudouridine synthase". RNA. 5 (3): 409–19. doi:10.1017/S1355838299981591. PMC 1369769. PMID 10094309.

[entrez-6] "Entrez Gene: PUS1 pseudouridylate synthase 1".

[7] Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M (2009). "Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)". BMJ Case Reports. 2009: bcr0520091889. doi:10.1136/bcr.05.2009.1889. PMC 3030164. PMID 21686963.

[8] Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N (June 2004). "Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)". American Journal of Human Genetics. 74 (6): 1303–8. doi:10.1086/421530. PMC 1182096. PMID 15108122.

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