PUS1

PUS1
Identifiers
Aliases	PUS1, MLASA1, pseudouridylate synthase 1, pseudouridine synthase 1
External IDs	OMIM: 608109; MGI: 1929237; HomoloGene: 5931; GeneCards: PUS1; OMA:PUS1 - orthologs
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4IQM, 4ITS, 4J37, 4NZ6, 4NZ7
Enzyme activity
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]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000177192 – Ensembl, May 2017
1 2 3 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) S1355838299981591: 409–19. doi:10.1017/S1355838299981591. PMC 1369769. PMID 10094309.
1 2 "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.

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.
Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, et al. (November 2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression". Proceedings of the National Academy of Sciences of the United States of America. 101 (44): 15724–9. Bibcode:2004PNAS..10115724W. doi:10.1073/pnas.0404089101. PMC 524842. PMID 15498874.
Patton JR, Bykhovskaya Y, Mengesha E, Bertolotto C, Fischel-Ghodsian N (May 2005). "Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation". The Journal of Biological Chemistry. 280 (20): 19823–8. doi:10.1074/jbc.M500216200. PMID 15772074.
Beausoleil SA, Villén J, Gerber SA, Rush J, Gygi SP (October 2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nature Biotechnology. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243. S2CID 14294292.
Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M (March 2007). "Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)". Journal of Medical Genetics. 44 (3): 173–80. doi:10.1136/jmg.2006.045252. PMC 2598032. PMID 17056637.
Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (November 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.

This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000177192 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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) S1355838299981591: 409–19. doi:10.1017/S1355838299981591. PMC 1369769. PMID 10094309.

[entrez-6] 1 2 "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.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

This page was redesigned at the edge.

PUS1

See also

References

Further reading