| Primary Identifier | MGI:1345634 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 23802 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable several functions, including BAT3 complex binding activity; ubiquitin-specific protease binding activity; and ubiquitin-ubiquitin ligase activity. Involved in negative regulation of canonical Wnt signaling pathway and regulation of SREBP signaling pathway. Predicted to be located in several cellular components, including growth cone; neuronal cell body; and perinuclear region of cytoplasm. Predicted to be part of Derlin-1 retrotranslocation complex and ubiquitin ligase complex. Predicted to be active in cytosol and endoplasmic reticulum. Is expressed in several structures, including central nervous system; genitourinary system; integumental system; liver; and retina nuclear layer. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 89. Orthologous to human AMFR (autocrine motility factor receptor). PHENOTYPE: Mice for a gene-trapped null allele are obese and develop liver steatosis and/or hepatic inflammation resembling nonalcoholic steatohepatitis. Some mice develop liver tumors. Mice homozygous for another knock-out allele exhibit normal HMGCR turnover in mouse embryonic fibroblasts. [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
