Primary Identifier | MGI:1926884 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 59026 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ubiquitin protein ligase activity. Involved in several processes, including circadian regulation of gene expression; negative regulation of peroxisome proliferator activated receptor signaling pathway; and positive regulation of protein ubiquitination. Predicted to be located in cytosol and nucleoplasm. Predicted to be active in Golgi membrane and nucleus. Is expressed in several structures, including extraembryonic component. Human ortholog(s) of this gene implicated in syndromic X-linked intellectual disability Turner type. Orthologous to human HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1). PHENOTYPE: Mice homozygous for a conditional allele activated in neurons results in neonatal lethality, poorly developed dentate gyrus, small cerebellum, increased cortex density, and increased neuronal precursor cell proliferation. [provided by MGI curators] |