Property Summary

NCBI Gene PubMed Count 17
PubMed Score 44.67
PubTator Score 24.18

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
malignant mesothelioma 1.300 8.4e-06
psoriasis 1.400 3.5e-04
colon cancer 1.400 4.0e-03
lung cancer 1.200 5.4e-04
breast carcinoma 1.100 1.8e-02
ovarian cancer 1.500 4.4e-05

Gene RIF (7)

PMID Text
22998747 results show that the NTD of ERalpha and AR contains a novel RBM that directly binds SRA, and that STR5 can serve as a novel class of RNA inhibitor of ERalpha and AR signaling by interfering with Pus1p-mediated SRA pseudouridylation
22102571 Investigation of the sequence and structural requirements for hPus1p activity on human tRNASer.
19731322 We identified one novel homozygous null mutation in a familial case. It predicts a nonsense mutation at glutamine 154 (Q154X) that would lead to a protein lacking the 266 C-terminal amino acids
18648068 Three residues (R116, Y173, R267) that correspond to amino acids known to compose the active site of TruA, a bacterial Psi synthase that is homologous to Pus1p, were mutated in human Pus1p.
17056637 A new homozygous stop mutation (E220X)predicts a protein missing 208/427 amino acid residues on the C terminus. The nuclear isoform has an N-terminal extension absent in the mature mitochondrial isoform.
15772074 MLASA is associated with absent or greatly reduced tRNA pseudouridylation at specific sites, implicating this pathway in its molecular pathogenesis.
15108122 Missense mutation in pseudouridine synthase 1 causes mitochondrial myopathy and sideroblastic anemia

AA Sequence

MGLQLRALLGAFGRWTLRLGPRPSCSPRMAGNAEPPPAGAACPQDRRSCSGRAGGDRVWEDGEHPAKKLK      1 - 70
SGGDEERREKPPKRKIVLLMAYSGKGYHGMQRNVGSSQFKTIEDDLVSALVRSGCIPENHGEDMRKMSFQ     71 - 140
RCARTDKGVSAAGQVVSLKVWLIDDILEKINSHLPSHIRILGLKRVTGGFNSKNRCDARTYCYLLPTFAF    141 - 210
AHKDRDVQDETYRLSAETLQQVNRLLACYKGTHNFHNFTSQKGPQDPSACRYILEMYCEEPFVREGLEFA    211 - 280
VIRVKGQSFMMHQIRKMVGLVVAIVKGYAPESVLERSWGTEKVDVPKAPGLGLVLERVHFEKYNQRFGND    281 - 350
GLHEPLDWAQEEGKVAAFKEEHIYPTIIGTERDERSMAQWLSTLPIHNFSATALTAGGTGAKVPSPLEGS    351 - 420
EGDGDTD                                                                   421 - 427
//

Text Mined References (28)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22998747 2012 A small RNA derived from RNA coactivator SRA blocks steroid receptor signaling via inhibition of Pus1p-mediated pseudouridylation of SRA: evidence of a novel RNA binding domain in the N-terminus of steroid receptors.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
22102571 2012 Pseudouridine synthase 1: a site-specific synthase without strict sequence recognition requirements.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
20843780 2011 Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19731322 2010 Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18648068 2008 Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
17056637 2007 Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
16964243 2006 A probability-based approach for high-throughput protein phosphorylation analysis and site localization.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
15772074 2005 Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation.
15498874 2004 Large-scale cDNA transfection screening for genes related to cancer development and progression.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15108122 2004 Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10094309 1999 Cloning and characterization of a mammalian pseudouridine synthase.