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MLKL mixed lineage kinase domain like pseudokinase [ Homo sapiens (human) ]

Gene ID: 197259, updated on 5-Jul-2020

Summary

Official Symbol
MLKLprovided by HGNC
Official Full Name
mixed lineage kinase domain like pseudokinaseprovided by HGNC
Primary source
HGNC:HGNC:26617
See related
Ensembl:ENSG00000168404 MIM:615153
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
hMLKL
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]
Expression
Broad expression in spleen (RPKM 10.5), bone marrow (RPKM 10.4) and 23 other tissues See more
Orthologs

Genomic context

See MLKL in Genome Data Viewer
Location:
16q23.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (74671855..74700889, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (74705753..74734789, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ring finger and WD repeat domain 3 Neighboring gene thymopoietin pseudogene 2 Neighboring gene fatty acid 2-hydroxylase Neighboring gene uncharacterized LOC105371343

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ34389

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
JUN kinase kinase kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT protein kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
activation of JUN kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell surface receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
necroptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
necroptotic process TAS
Traceable Author Statement
more info
 
necroptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein homotrimerization IDA
Inferred from Direct Assay
more info
PubMed 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
mixed lineage kinase domain-like protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001142497.3NP_001135969.1  mixed lineage kinase domain-like protein isoform 2

    See identical proteins and their annotated locations for NP_001135969.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as MLKLshRNA-B) lacks several consecutive exons in the mid region and uses an alternate donor splice site at the next exon, which causes a localized frameshift compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter, lacking an internal protein segment compared to isoform 1.
    Source sequence(s)
    BC028141, BQ575071, DB291522
    Consensus CDS
    CCDS45528.1
    UniProtKB/Swiss-Prot
    Q8NB16
    Related
    ENSP00000303118.7, ENST00000306247.11
    Conserved Domains (1) summary
    PHA02988
    Location:212261
    PHA02988; hypothetical protein; Provisional
  2. NM_152649.4NP_689862.1  mixed lineage kinase domain-like protein isoform 1

    See identical proteins and their annotated locations for NP_689862.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as MLKLshRNA-A) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK091708, BC028141, BQ575071
    Consensus CDS
    CCDS32487.1
    UniProtKB/Swiss-Prot
    Q8NB16
    Related
    ENSP00000308351.7, ENST00000308807.12
    Conserved Domains (2) summary
    PHA02988
    Location:177469
    PHA02988; hypothetical protein; Provisional
    cl21453
    Location:215466
    PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    74671855..74700889 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255834.4XP_005255891.1  mixed lineage kinase domain-like protein isoform X1

    See identical proteins and their annotated locations for XP_005255891.1

    UniProtKB/Swiss-Prot
    Q8NB16
    Conserved Domains (2) summary
    PHA02988
    Location:177469
    PHA02988; hypothetical protein; Provisional
    cl21453
    Location:215466
    PKc_like; Protein Kinases, catalytic domain
  2. XM_011522936.3XP_011521238.1  mixed lineage kinase domain-like protein isoform X2

    See identical proteins and their annotated locations for XP_011521238.1

    Conserved Domains (1) summary
    cl21453
    Location:215277
    PKc_like; Protein Kinases, catalytic domain

RNA

  1. XR_001751859.2 RNA Sequence

  2. XR_001751863.2 RNA Sequence

  3. XR_001751861.2 RNA Sequence

  4. XR_001751862.2 RNA Sequence

  5. XR_001751860.2 RNA Sequence

  6. XR_001751858.2 RNA Sequence

  7. XR_429715.4 RNA Sequence

  8. XR_002957791.1 RNA Sequence

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