PUS1

From Wikipedia, the free encyclopedia

Pseudouridylate synthase 1

Identifiers

PUS1; MGC11268; MLASA

External IDs

OMIM: 608109 MGI: 1929237 HomoloGene: 5931

Gene ontology
Molecular Function:	• DNA binding • pseudouridylate synthase activity • protein binding • tRNA-pseudouridine synthase activity • isomerase activity • ligand-dependent nuclear receptor transcription coactivator activity
Cellular Component:	• nucleus • transcription factor complex • nucleolus
Biological Process:	• tRNA processing • tRNA pseudouridine synthesis • positive regulation of transcription from RNA polymerase II promoter

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001002019 (mRNA)
NP_001002019 (protein)

NM_001025561 (mRNA)
NP_001020732 (protein)

Location

Chr 12: 130.98 - 130.99 Mb

Chr 5: 111.01 - 111.02 Mb

Pubmed search

[1]

[2]

Pseudouridylate synthase 1, also known as PUS1, is a human gene.^[1]

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 (Chen and Patton, 1999).[supplied by OMIM]^[1]

[edit] References

^ ^a ^b Entrez Gene: PUS1 pseudouridylate synthase 1.

[edit] Further reading

Chen J, Patton JR (1999). "Cloning and characterization of a mammalian pseudouridine synthase.". RNA 5 (3): 409–19. PMID 10094309.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Bykhovskaya Y, Casas K, Mengesha E, et al. (2004). "Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).". Am. J. Hum. Genet. 74 (6): 1303–8. doi:10.1086/421530. PMID 15108122.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Wan D, Gong Y, Qin W, et al. (2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression.". Proc. Natl. Acad. Sci. U.S.A. 101 (44): 15724–9. doi:10.1073/pnas.0404089101. PMID 15498874.
Patton JR, Bykhovskaya Y, Mengesha E, et al. (2005). "Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation.". J. Biol. Chem. 280 (20): 19823–8. doi:10.1074/jbc.M500216200. PMID 15772074.
Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243.
Fernandez-Vizarra E, Berardinelli A, Valente L, et al. (2007). "Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).". J. Med. Genet. 44 (3): 173–80. doi:10.1136/jmg.2006.045252. PMID 17056637.
Olsen JV, Blagoev B, Gnad F, et al. (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.