Primary Identifier | MGI:107765 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 11785 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ubiquitin protein ligase binding activity. Involved in several processes, including double-strand break repair; positive regulation of DNA repair; and smooth muscle contraction. Acts upstream of or within several processes, including generation of neurons; negative regulation of neuron differentiation; and positive regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleus. Is active in Schaffer collateral - CA1 synapse; glutamatergic synapse; and neuromuscular junction. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Alzheimer's disease and nicotine dependence. Orthologous to human APBB1 (amyloid beta precursor protein binding family B member 1). PHENOTYPE: Homozygotes for a null allele are hypersensitive to ionizing radiation while mouse embryonic fibroblasts are hypersensitive to DNA damaging agents. Homozygotes for a second null allele display impaired performance in learning and memory tasks, with a striking deficit in reversal spatial learning. [provided by MGI curators] |