| Primary Identifier | MGI:2146189 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 106021 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including DNA topoisomerase binding activity; antigen binding activity; and ubiquitin-like protein transferase activity. Acts upstream of or within intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator; positive regulation of DNA-templated transcription; and regulation of cell population proliferation. Located in ciliary basal body; nucleus; and photoreceptor connecting cilium. Is expressed in skin. Human ortholog(s) of this gene implicated in retinitis pigmentosa 31. Orthologous to human TOPORS (TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase). PHENOTYPE: Mice homozygous for a null allele show a high rate of perinatal lethality, decreased lifespan and decreased weight. MEFs show a high rate of aneuploidy due to a defect in mitotic chromosome segregation. Heterozygotes show increased tumor incidence. [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
