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 8.0.0) 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 negative regulation of cell population proliferation; neuron development; and regulation of transcription by RNA polymerase II. 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. Used to study lung small cell carcinoma; osteosarcoma; retinoblastoma; and urinary bladder cancer. 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] |