| Primary Identifier | MGI:105098 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 22215 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables transcription coactivator activity and ubiquitin protein ligase activity. Involved in several processes, including negative regulation of TORC1 signaling; positive regulation of Golgi lumen acidification; and proteasome-mediated ubiquitin-dependent protein catabolic process. Acts upstream of or within several processes, including positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; reproductive structure development; and sperm entry. Located in cytosol and nucleus. Is active in glutamatergic synapse; postsynaptic cytosol; and synaptic vesicle. Is expressed in several structures, including central nervous system; radius; and retina. Used to study Angelman syndrome. Human ortholog(s) of this gene implicated in Angelman syndrome. Orthologous to human UBE3A (ubiquitin protein ligase E3A). PHENOTYPE: Mice with maternally inherited targeted null mutations exhibit reduced brain weight, impaired motor function, inducible seizures, learning deficits, abnormal hippocampal electroencephalographic recordings, and severely impaired long-term potentiation. A gain-of-function mutation affects different behaviors depending on allele parent-of-origin. [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
