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Identification
HMDB Protein ID HMDBP01098
Secondary Accession Numbers
  • 6387
Name tRNA pseudouridine synthase A, mitochondrial
Synonyms
  1. tRNA pseudouridylate synthase I
  2. tRNA-uridine isomerase I
Gene Name PUS1
Protein Type Enzyme
Biological Properties
General Function Involved in RNA binding
Specific Function Converts specific uridines to PSI in a number of tRNA substrates. Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA. Involved in regulation of nuclear receptor activity possibly through pseudouridylation of SRA1 RNA
Pathways Not Available
Reactions Not Available
GO Classification
Function
binding
catalytic activity
nucleic acid binding
isomerase activity
pseudouridine synthase activity
intramolecular transferase activity
rna binding
Process
rna metabolic process
metabolic process
macromolecule metabolic process
cellular macromolecule metabolic process
rna modification
pseudouridine synthesis
Cellular Location
  1. Isoform 2:Nucleus
Gene Properties
Chromosome Location Chromosome:1
Locus 12q24.33
SNPs PUS1
Gene Sequence
>1284 bp
ATGGGCCTCCAGCTTCGCGCGCTGTTGGGAGCCTTCGGACGGTGGACCCTGCGCCTGGGA
CCGCGTCCGTCCTGCTCGCCGCGCATGGCCGGGAACGCGGAGCCGCCGCCCGCCGGAGCC
GCATGCCCCCAGGACCGGAGGTCCTGCAGCGGCCGGGCCGGGGGCGACCGCGTCTGGGAG
GACGGAGAACATCCGGCGAAGAAGCTCAAGAGCGGTGGCGACGAGGAGCGGCGCGAGAAG
CCGCCCAAGCGGAAGATCGTGCTGCTCATGGCCTATTCGGGCAAGGGCTACCACGGCATG
CAGAGGAATGTCGGGTCCTCACAATTCAAAACAATTGAAGATGACTTGGTGTCCGCCCTC
GTCCGGTCAGGCTGTATTCCTGAAAATCATGGTGAGGACATGAGGAAAATGTCCTTCCAG
CGCTGCGCCCGGACAGACAAGGGTGTGTCCGCAGCCGGCCAGGTGGTATCCCTGAAGGTG
TGGCTGATTGACGACATTCTAGAAAAGATCAACAGCCACCTTCCCTCTCACATTCGGATT
CTGGGACTGAAGCGGGTCACGGGCGGGTTTAACTCCAAGAACAGATGTGATGCCAGGACC
TATTGCTACCTGCTGCCCACGTTTGCCTTTGCGCACAAGGACCGGGACGTTCAGGATGAG
ACCTACCGCCTGAGCGCCGAGACGCTGCAGCAGGTCAACAGGCTCCTGGCCTGCTACAAG
GGCACGCACAACTTCCACAATTTCACCTCGCAGAAGGGGCCGCAGGATCCCAGTGCCTGC
CGCTACATCCTGGAGATGTACTGCGAGGAACCCTTTGTGCGGGAGGGCCTGGAGTTTGCG
GTGATCAGGGTGAAGGGCCAGAGCTTCATGATGCATCAGATCCGGAAGATGGTCGGCCTG
GTGGTGGCCATTGTGAAGGGTTATGCCCCTGAGAGCGTGCTGGAGCGCAGCTGGGGCACA
GAGAAGGTGGACGTGCCCAAGGCGCCCGGACTCGGCCTGGTCCTGGAGAGGGTGCACTTC
GAGAAGTACAACCAGCGCTTTGGCAACGATGGGCTGCATGAGCCGCTGGACTGGGCGCAG
GAGGAAGGAAAGGTCGCAGCCTTCAAGGAGGAGCACATCTACCCCACCATCATCGGCACC
GAGCGGGACGAACGCTCCATGGCCCAGTGGCTGAGCACCTTGCCCATCCACAACTTCAGT
GCCACCGCTCTCACGGCAGGTGGCACGGGCGCCAAGGTGCCCAGTCCCCTGGAAGGCAGT
GAAGGGGACGGAGACACTGACTGA
Protein Properties
Number of Residues 427
Molecular Weight 47469.7
Theoretical pI 8.54
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>tRNA pseudouridine synthase A, mitochondrial
MGLQLRALLGAFGRWTLRLGPRPSCSPRMAGNAEPPPAGAACPQDRRSCSGRAGGDRVWE
DGEHPAKKLKSGGDEERREKPPKRKIVLLMAYSGKGYHGMQRNVGSSQFKTIEDDLVSAL
VRSGCIPENHGEDMRKMSFQRCARTDKGVSAAGQVVSLKVWLIDDILEKINSHLPSHIRI
LGLKRVTGGFNSKNRCDARTYCYLLPTFAFAHKDRDVQDETYRLSAETLQQVNRLLACYK
GTHNFHNFTSQKGPQDPSACRYILEMYCEEPFVREGLEFAVIRVKGQSFMMHQIRKMVGL
VVAIVKGYAPESVLERSWGTEKVDVPKAPGLGLVLERVHFEKYNQRFGNDGLHEPLDWAQ
EEGKVAAFKEEHIYPTIIGTERDERSMAQWLSTLPIHNFSATALTAGGTGAKVPSPLEGS
EGDGDTD
GenBank ID Protein 70166645
UniProtKB/Swiss-Prot ID Q9Y606
UniProtKB/Swiss-Prot Entry Name TRUA_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_025215.5
GeneCard ID PUS1
GenAtlas ID PUS1
HGNC ID HGNC:15508
References
General References
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  3. Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. doi: 10.1073/pnas.0805139105. Epub 2008 Jul 31. [PubMed:18669648 ]
  4. Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci Signal. 2009 Aug 18;2(84):ra46. doi: 10.1126/scisignal.2000007. [PubMed:19690332 ]
  5. Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. Cell. 2006 Nov 3;127(3):635-48. [PubMed:17081983 ]
  6. Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. Anal Chem. 2009 Jun 1;81(11):4493-501. doi: 10.1021/ac9004309. [PubMed:19413330 ]
  7. Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP: A probability-based approach for high-throughput protein phosphorylation analysis and site localization. Nat Biotechnol. 2006 Oct;24(10):1285-92. Epub 2006 Sep 10. [PubMed:16964243 ]
  8. Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ: Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer. Cell. 2007 Dec 14;131(6):1190-203. [PubMed:18083107 ]
  9. Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. [PubMed:16959974 ]
  10. Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, Zhou X, Li H, Qiu X, Zhong F, He L, Yu J, Yao G, Jiang H, Qian L, Yu Y, Shu H, Chen X, Xu H, Guo M, Pan Z, Chen Y, Ge C, Yang S, Gu J: Large-scale cDNA transfection screening for genes related to cancer development and progression. Proc Natl Acad Sci U S A. 2004 Nov 2;101(44):15724-9. Epub 2004 Oct 21. [PubMed:15498874 ]
  11. Chen J, Patton JR: Cloning and characterization of a mammalian pseudouridine synthase. RNA. 1999 Mar;5(3):409-19. [PubMed:10094309 ]
  12. Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M: Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). J Med Genet. 2007 Mar;44(3):173-80. Epub 2006 Oct 20. [PubMed:17056637 ]
  13. Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N: Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). Am J Hum Genet. 2004 Jun;74(6):1303-8. Epub 2004 Apr 22. [PubMed:15108122 ]