| Primary Identifier | MGI:1891731 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 56424 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables protein homodimerization activity; ubiquitin protein ligase binding activity; and ubiquitin-ubiquitin ligase activity. Involved in several processes, including cellular response to misfolded protein; endoplasmic reticulum unfolded protein response; and proteolysis involved in protein catabolic process. Acts upstream of or within protein polyubiquitination. Located in Z disc. Is expressed in tooth. Used to study autosomal recessive spinocerebellar ataxia 16. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 16 and cerebellar ataxia type 48. Orthologous to human STUB1 (STIP1 homology and U-box containing protein 1). PHENOTYPE: Homozygous null mice develop normally but are susceptible to stress-induced apoptosis of multiple organs. Increased peri- and postnatal lethality. [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
