| Primary Identifier | MGI:1930134 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 78943 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables RNA endonuclease activity; protein homodimerization activity; and protein serine/threonine kinase activity. Involved in IRE1-mediated unfolded protein response; positive regulation of JNK cascade; and positive regulation of RNA splicing. Acts upstream of or within endoplasmic reticulum unfolded protein response; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; and protein autophosphorylation. Located in endoplasmic reticulum membrane; mitochondrion; and nuclear inner membrane. Part of AIP1-IRE1 complex. Is expressed in several structures, including brain; connective tissue; hemolymphoid system gland; long bone; and tooth. Human ortholog(s) of this gene implicated in hepatocellular carcinoma. Orthologous to human ERN1 (endoplasmic reticulum to nucleus signaling 1). PHENOTYPE: Mice homozygous for null mutations display embryonic lethality during organogenesis. Homozygous mice may also display decreased embryo size, impaired hematopoiesis, and/or placental abnormalities. Homozygosity for an activity-enhancing mutation leads to improved clinical outcomes after experimental autoimmune encephalomyelitis (EAE). [provided by MGI curators] |