Primary Identifier | MGI:1934704 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 268749 |
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 CD40 signaling pathway; positive regulation of canonical NF-kappaB signal transduction; and protein polyubiquitination. Acts upstream of or within negative regulation of necroptotic process. Located in cytoplasmic side of plasma membrane and cytosol. Part of CD40 receptor complex and LUBAC complex. Is expressed in several structures, including brain; genitourinary system; gut; hemolymphoid system gland; and sensory organ. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human RNF31 (ring finger protein 31). PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality. Mice homozygous for a conditional allele activated in B cells exhibit severely impaired B1 B cell development and impaired antibody responses to both T cell-dependent and T cell-independent type 2 antigens. [provided by MGI curators] |