PUS1 Antibody

1. 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 PMID: 22998747
2. Investigation of the sequence and structural requirements for hPus1p activity on human tRNASer. PMID: 22102571
3. 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 PMID: 19731322
4. Missense mutation in pseudouridine synthase 1 causes mitochondrial myopathy and sideroblastic anemia PMID: 15108122
5. MLASA is associated with absent or greatly reduced tRNA pseudouridylation at specific sites, implicating this pathway in its molecular pathogenesis. PMID: 15772074
6. 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. PMID: 17056637
7. 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. PMID: 18648068

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HGNC: 15508

OMIM: 600462

KEGG: hsa:80324

STRING: 9606.ENSP00000365837

UniGene: Hs.592004