PUS1

PUS1
Identifiers
AliasesPUS1, MLASA1, pseudouridylate synthase 1, pseudouridine synthase 1
External IDsOMIM: 608109; MGI: 1929237; GeneCards: PUS1
Available structures
PDBOrtholog search: PDBe RCSB
Enzyme activity
EC #BRENDAExPASyKEGGMetaCyc
5.4.99.12↗↗↗↗
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

80324

56361

Ensembl

ENSG00000177192

ENSMUSG00000029507

UniProt

Q9Y606

Q9WU56

RefSeq (mRNA)

NM_001002019
NM_001002020
NM_025215

RefSeq (protein)

NP_001002019
NP_001002020
NP_079491

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) S1355838299981591: 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

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