pseudouridylate synthetase

mouse Pus3 has 34% identity with yeast Pus3p; forms pseudouridine at position 39 in tRNA in vitro, modifying the anticodon loop; GenBank AF266505 (mouse)

Also Known As:

PUS1 protein; Pus10 protein, human; Pus3p; RluA protein, E coli; RluB synthase; RluE synthase; RluF synthase; TruC synthase; TruD Synthase; pseudouridine synthase 1; pseudouridine synthase 3

Networked: 9 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Lyases: 637
    - Carbon-Oxygen Lyases
      - Hydro-Lyases: 266
        pseudouridylate synthetase: 9

Experts

1.	Bykhovskaya, Yelena: 3 articles (01/2016 - 06/2004)
2.	Fischel-Ghodsian, Nathan: 3 articles (01/2016 - 06/2004)
3.	Patton, Jeffrey R: 2 articles (01/2016 - 05/2005)
4.	Mengesha, Emebet: 2 articles (05/2005 - 06/2004)
5.	Chen, Gong: 1 article (01/2021)
6.	Chen, Shuai: 1 article (01/2021)
7.	Kan, Guangyan: 1 article (01/2021)
8.	Mao, Yizhi: 1 article (01/2021)
9.	Sheng, Chunjie: 1 article (01/2021)
10.	Wang, Ziyang: 1 article (01/2021)

Related Diseases

1.	Dyskeratosis Congenita (X-Linked Dyskeratosis Congenita) 04/27/2019 - "DKC1 (dyskerin pseudouridine synthase 1) is a causative gene for X-linked dyskeratosis congenita. " 01/01/2018 - "Several genes have been implicated in the pathogenesis of dyskeratosis congenita, with the dyskerin pseudouridine synthase 1 (DKC1) gene mutations being the X-linked recessive gene. "
2.	Myopathy with lactic acidosis and sideroblastic anemia 06/01/2004 - "Sequence analysis of each of the six known genes in this region, as well as four putative genes with expression in bone marrow or muscle, identified a homozygous missense mutation in the pseudouridine synthase 1 gene (PUS1) in all patients with MLASA from these families. " 06/01/2004 - "Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)." 05/20/2005 - "Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation."
3.	Neurodevelopmental Disorders 12/01/2022 - "Genomic mutations in the human pseudouridine synthase 3 gene (PUS3) have been identified in patients with neurodevelopmental disorders. "
4.	Mitochondrial Myopathies (Mitochondrial Myopathy) 01/01/2016 - "Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations."
5.	Colorectal Neoplasms (Colorectal Cancer) 01/01/2021 - "Dyskerin pseudouridine synthase 1 (DKC1), screened using the genome-wide RNAi strategy, is a previously unidentified key regulator that promotes colorectal cancer cell proliferation. "

Related Drugs and Biologics

1.	Transfer RNA (tRNA)
2.	RNA (Ribonucleic Acid)
3.	Proteins (Proteins, Gene)
4.	Enzymes