Reference Gene

Gene name Alias Species Exons Type Paralogs EC number OMIM
MLKL mixed lineage kinase domain like pseudokinase hMLKL Homo sapiens 12 protein-coding RAF1 , ARAF , BRAF , ILK , MAP3K12 , MAP3K13 , RIPK2 , RIPK1 , MAP3K11 , MAP3K10 , MAP3K9 615153

Summary

This gene belongs to the protein kinase superfamily. The encoded protein contains a protein kinase-like domain; however, is thought to be inactive because it lacks several residues required for activity. This protein plays a critical role in tumor necrosis factor (TNF)-induced necroptosis, a programmed cell death process, via interaction with receptor-interacting protein 3 (RIP3), which is a key signaling molecule in necroptosis pathway. Inhibitor studies and knockdown of this gene inhibited TNF-induced necrosis. High levels of this protein and RIP3 are associated with inflammatory bowel disease in children. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2015]

Gene Loss events - MLKL (39 results)

GL_ID Species Order Gene Loss Mechanism Loss Type Lineage Specific Citation
GL_C7CEB8 Enhydra lutris Carnivora Gene deletion Full No 10.3389/fimmu.2021.747737
GL_CACTD8 Fukomys damarensis Rodentia LOF (frameshift, premature stop, ss) Full No 10.3389/fimmu.2021.747737
GL_CXW6OI Chrysochloris asiatica Afrosoricida LOF (frameshift, premature stop, ss) Full No 10.3389/fimmu.2021.747737
GL_ESWDM8 Lepus granatensis Lagomorpha Gene deletion Full No 10.3389/fimmu.2021.747737
GL_FT3VBF Callorhinus ursinus Carnivora Gene deletion Full No 10.3389/fimmu.2021.747737
GL_GYFSPA Trichechus manatus Sirenia LOF (frameshift, premature stop, ss) Full No 10.3389/fimmu.2021.747737
GL_H6SO6H Lipotes vexillifer Artiodactyla LOF (frameshift, premature stop, ss) Full Cetacea 10.3389/fimmu.2021.747737
GL_HITL1A Heterocephalus glaber Rodentia LOF (frameshift, premature stop, ss) Full No 10.3389/fimmu.2021.747737
GL_JJDL2H Octodon degus Rodentia LOF (frameshift, premature stop, ss) Full No 10.3389/fimmu.2021.747737
GL_JPGC6Q Canis lupus Carnivora Gene deletion Full No 10.3389/fimmu.2021.747737