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]

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
Orthologs
SpeciesHumanMouse
Entrez

197259

74568

Ensembl

ENSG00000168404

ENSMUSG00000012519

UniProt

Q8NB16

Q9D2Y4

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
View/Edit HumanView/Edit Mouse

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]. Some reports have linked it to unusual variants of multiple sclerosis[6]

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000168404 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000012519 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: Mixed lineage kinase domain like pseudokinase". Retrieved 2017-12-31.
  6. Faergeman, S.L., Evans, H., Attfield, K.E. et al. A novel neurodegenerative spectrum disorder in patients with MLKL deficiency. Cell Death Dis 11, 303 (2020). https://doi.org/10.1038/s41419-020-2494-0

Further reading


This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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