Primary Identifier | MGI:107365 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 22196 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables HLH domain binding activity and SUMO conjugating enzyme activity. Involved in several processes, including negative regulation of transcription by RNA polymerase II; nuclear export; and protein sumoylation. Acts upstream of or within positive regulation of canonical NF-kappaB signal transduction. Located in nuclear body. Part of SUMO ligase complex. Is active in several cellular components, including Schaffer collateral - CA1 synapse; postsynaptic cytosol; and presynaptic cytosol. Is expressed in several structures, including early embryo; forebrain; forelimb bud; limb; and oocyte. Orthologous to human UBE2I (ubiquitin conjugating enzyme E2 I). PHENOTYPE: Embryos homozygous for a targeted null mutation die prior to E7.5. In culture, mutant blastocysts are viable up to 2 days but show subsequent apoptosis of the inner cell mass. Mutant cells exhibit major chromosome condensation and segregation defects as well as gross defects in nuclear organization. [provided by MGI curators] |