Mixed lineage kinase domain like pseudokinase

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

Mixed lineage kinase domain like pseudokinase

Mixed lineage kinase domain like pseudokinase (MLKL) is a protein that in humans is encoded by the MLKL gene. [5]

Quick Facts MLKL, Available structures ...
MLKL
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMLKL, hmixed lineage kinase domain-like, mixed lineage kinase domain like pseudokinase
External IDsOMIM: 615153; MGI: 1921818; HomoloGene: 77416; GeneCards: MLKL; OMA:MLKL - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001142497
NM_152649

NM_029005
NM_001310613

RefSeq (protein)

NP_001135969
NP_689862

NP_001297542
NP_083281

Location (UCSC)Chr 16: 74.67 – 74.7 MbChr 8: 112.04 – 112.06 Mb
PubMed search[3][4]
Wikidata
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Function

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.

Influence in diseases

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]. A unique neurodegenerative disease has been reported in association with a homozygous frameshift mutation, rs561839347, in MLKL that causes replacement of part of the C-terminal pseudokinase domain with a 21-residue sequence of random amino acids.[6]

See also

References

Further reading

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