| Primary Identifier | MGI:1929237 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 56361 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables chromatin binding activity; nuclear receptor coactivator activity; and tRNA pseudouridine synthase activity. Involved in tRNA pseudouridine synthesis. Acts upstream of or within positive regulation of transcription by RNA polymerase II. Located in nucleolus. Part of transcription regulator complex. Used to study myopathy, lactic acidosis, and sideroblastic anemia. Human ortholog(s) of this gene implicated in myopathy, lactic acidosis, and sideroblastic anemia 1. Orthologous to human PUS1 (pseudouridine synthase 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit slow postnatal weight gain, impaired exercise endurance, and alterations in muscle metabolism related to mitochondrial content and oxidative capacity. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
