PUS1

Protein-coding gene in the species Homo sapiens
PUS1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

4IQM, 4ITS, 4J37, 4NZ6, 4NZ7

Identifiers
AliasesPUS1, MLASA1, pseudouridylate synthase 1, pseudouridine synthase 1
External IDsOMIM: 608109; MGI: 1929237; HomoloGene: 5931; GeneCards: PUS1; OMA:PUS1 - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for PUS1
Genomic location for PUS1
Band12q24.33Start131,929,200 bp[1]
End131,945,896 bp[1]
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)[2]
Chromosome 5 (mouse)
Genomic location for PUS1
Genomic location for PUS1
Band5|5 FStart110,921,533 bp[2]
End110,928,525 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 5: 110.92 – 110.93 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000177192 – Ensembl, May 2017
  2. ^ a b c 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.
  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.
  6. ^ a b "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.

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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