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Protein-coding gene in the species Homo sapiens
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] 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 .
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