| Primary Identifier | MGI:97874 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 19645 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables RNA polymerase II-specific DNA-binding transcription factor binding activity and enzyme binding activity. Involved in several processes, including negative regulation of cold-induced thermogenesis; negative regulation of myofibroblast differentiation; and positive regulation of collagen fibril organization. Acts upstream of or within several processes, including G1/S transition of mitotic cell cycle; neuron development; and regulation of gene expression. Located in cytoplasm; nucleus; and spindle. Part of Rb-E2F complex. Is expressed in several structures, including alimentary system; central nervous system; eye; gonad; and integumental system. Human ortholog(s) of this gene implicated in several diseases, including high grade glioma (multiple); osteosarcoma; prostate cancer; retinoblastoma (multiple); and small cell carcinoma. Orthologous to human RB1 (RB transcriptional corepressor 1). PHENOTYPE: Homozygotes for targeted mutations exhibit abnormalities of the neuronal and hematopoietic systems and die in utero. Heterozygotes may develop pituitary tumors associated with loss of the normal allele. [provided by MGI curators] |