| Primary Identifier | MGI:1929512 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 56722 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; WW domain binding activity; and zinc ion binding activity. Acts upstream of or within cellular response to lipopolysaccharide; negative regulation of non-canonical NF-kappaB signal transduction; and regulation of macrophage cytokine production. Predicted to be located in several cellular components, including Golgi apparatus; bounding membrane of organelle; and cytoplasmic side of plasma membrane. Predicted to be active in cytoplasmic side of late endosome membrane; cytoplasmic side of lysosomal membrane; and nucleus. Is expressed in several structures, including central nervous system; genitourinary system; retina nuclear layer; submandibular gland primordium; and tooth. Used to study Charcot-Marie-Tooth disease type 1C. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 1C. Orthologous to human LITAF (lipopolysaccharide induced TNF factor). PHENOTYPE: Homozygous ablation of this gene in macrophages results in reduced cytokine secretion in response to LPS stimulation, and increased resistance to LPS-induced septic shock. Knockout and certain mutations result in lysosome and endosome morphological anomalies, leading to exosome secretion defects. [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
