Primary Identifier | MGI:1342291 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 19820 |
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 protein ubiquitination; random inactivation of X chromosome; and ubiquitin-dependent protein catabolic process. Acts upstream of or within negative regulation of DNA-binding transcription factor activity and negative regulation of transcription by RNA polymerase II. Located in nucleus. Is expressed in several structures, including central nervous system; extraembryonic component; limb; male reproductive system; and urinary system. Human ortholog(s) of this gene implicated in Tonne-Kalscheuer syndrome. Orthologous to human RLIM (ring finger protein, LIM domain interacting). PHENOTYPE: Mice heterozygous for a knock-out allele exhibit female-specific embryonic lethality when the allele is inherited maternally due to disruption in X-inactivation. [provided by MGI curators] |