| Primary Identifier | MGI:1277977 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 22222 |
| 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 ubiquitin-dependent protein catabolic process via the N-end rule pathway. Acts upstream of or within ubiquitin-dependent protein catabolic process. Part of proteasome complex and ubiquitin ligase complex. Is expressed in several structures, including branchial arch; genitourinary system; limb bud; liver; and lung. Used to study Johanson-Blizzard syndrome. Human ortholog(s) of this gene implicated in Johanson-Blizzard syndrome and cardiovascular system disease. Orthologous to human UBR1 (ubiquitin protein ligase E3 component n-recognin 1). PHENOTYPE: Homozygous null mutants have 20% lower body weight and reduced muscle and adipose tissue. Skeletal muscle lacks a mechanism for targeting proteins for rapid catabolism. Aberrant regulation of fatty acid synthase upon starvation is also observed. [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
