PUS1

PUS1

Available structures

Ortholog search: PDBe RCSB

List of PDB id codes
4IQM, 4ITS, 4J37, 4NZ6, 4NZ7

Identifiers

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]
Band	12q24.33	End	131,945,896 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 5 (mouse)^[2]

Band	5\|5 F	Start	110,921,533 bp^[2]
Band	5\|5 F	End	110,928,525 bp^[2]

RNA expression pattern

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


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

Species

Human

Mouse


80324


56361


ENSG00000177192


ENSMUSG00000029507


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]

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]

See also

References

^ ^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.

Further reading

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.

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