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Kmt2e lysine (K)-specific methyltransferase 2E [ Mus musculus (house mouse) ]

Gene ID: 69188, updated on 21-Apr-2024

Summary

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Official Symbol
Kmt2eprovided by MGI
Official Full Name
lysine (K)-specific methyltransferase 2Eprovided by MGI
Primary source
MGI:MGI:1924825
See related
Ensembl:ENSMUSG00000029004 AllianceGenome:MGI:1924825
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Mll5; NKp44L; 1810033J14Rik; 9530077A04Rik; D230038D11Rik
Summary
Predicted to enable enzyme binding activity and methylated histone binding activity. Involved in several processes, including DNA methylation; erythrocyte differentiation; and neutrophil activation. Predicted to be located in nuclear body and transcriptionally active chromatin. Predicted to be part of protein-containing complex. Is expressed in several structures, including alimentary system; eye; heart; metanephros; and nervous system. Human ortholog(s) of this gene implicated in autistic disorder and cervical cancer. Orthologous to human KMT2E (lysine methyltransferase 2E (inactive)). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in CNS E14 (RPKM 16.9), whole brain E14.5 (RPKM 16.4) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
5 A3; 5 10.33 cM
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (23638034..23709233)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (23433036..23504235)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene lipoma HMGIC fusion partner-like 3 Neighboring gene STARR-positive B cell enhancer mm9_chr5:22666753-22667054 Neighboring gene STARR-seq mESC enhancer starr_12596 Neighboring gene macrophage migration inhibitory factor, pseudogene 12 Neighboring gene STARR-seq mESC enhancer starr_12597 Neighboring gene STARR-seq mESC enhancer starr_12598 Neighboring gene STARR-seq mESC enhancer starr_12600 Neighboring gene STARR-seq mESC enhancer starr_12601 Neighboring gene SPATA31 subfamily H member 2 Neighboring gene STARR-seq mESC enhancer starr_12603 Neighboring gene RIKEN cDNA 5031425E22 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:22892703-22893070 Neighboring gene STARR-seq mESC enhancer starr_12607 Neighboring gene STARR-seq mESC enhancer starr_12606 Neighboring gene STARR-positive B cell enhancer ABC_E1297 Neighboring gene STARR-positive B cell enhancer ABC_E528 Neighboring gene serine/arginine-rich protein specific kinase 2 Neighboring gene STARR-seq mESC enhancer starr_12611 Neighboring gene STARR-positive B cell enhancer mm9_chr5:23122338-23122639 Neighboring gene STARR-positive B cell enhancer mm9_chr5:23143262-23143562 Neighboring gene STARR-seq mESC enhancer starr_12614 Neighboring gene STARR-positive B cell enhancer mm9_chr5:23206519-23206819 Neighboring gene expressed sequence AI506816 Neighboring gene predicted gene, 42226 Neighboring gene predicted gene, 50451

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. KMT2E Haploinsufficiency Manifests Autism-Like Behaviors and Amygdala Neuronal Development Dysfunction in Mice. Li YJ, et al. Mol Neurobiol, 2023 Mar. PMID 36534336
  2. MLL5 is involved in retinal photoreceptor maturation through facilitating CRX-mediated photoreceptor gene transactivation. Zhang X, et al. iScience, 2022 Apr 15. PMID 35359806, Free PMC Article
  3. Mll5 is required for normal spermatogenesis. Yap DB, et al. PLoS One, 2011. PMID 22069496, Free PMC Article
  4. DNA Damage-Induced HSPC Malfunction Depends on ROS Accumulation Downstream of IFN-1 Signaling and Bid Mobilization. Tasdogan A, et al. Cell Stem Cell, 2016 Dec 1. PMID 27641306
  5. Hematopoietic stem cell transplantation without irradiation. Waskow C, et al. Nat Methods, 2009 Apr. PMID 19270698

See all (38) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. KMT2E Haploinsufficiency Manifests Autism-Like Behaviors and Amygdala Neuronal Development Dysfunction in Mice.
    Title: KMT2E Haploinsufficiency Manifests Autism-Like Behaviors and Amygdala Neuronal Development Dysfunction in Mice.
  2. MLL5 has a role in suppressing antiviral innate immune response by facilitating STUB1-mediated RIG-I degradation
    Title: MLL5 suppresses antiviral innate immune response by facilitating STUB1-mediated RIG-I degradation.
  3. toxic reactive oxygen species levels in Mll5(-/-) mice are critically dependent on type 1 interferon (IFN-1) signaling, which triggers mitochondrial accumulation of full-length Bid.[IFN-1]
    Title: DNA Damage-Induced HSPC Malfunction Depends on ROS Accumulation Downstream of IFN-1 Signaling and Bid Mobilization.
  4. MLL5 plays an integral role in novel chromatin regulatory mechanisms that suppress inappropriate expression of S-phase-promoting genes and maintain expression of determination genes in quiescent cells.
    Title: MLL5, a trithorax homolog, indirectly regulates H3K4 methylation, represses cyclin A2 expression, and promotes myogenic differentiation.
  5. MLL5 is a key regulator of normal hematopoiesis
    Title: Loss of MLL5 results in pleiotropic hematopoietic defects, reduced neutrophil immune function, and extreme sensitivity to DNA demethylation.
  6. findings establish several nonredundant functions for Mll5, including an essential role in regulating proliferation and functional integrity of hematopoietic stem/progenitor cells
    Title: Impaired function of primitive hematopoietic cells in mice lacking the Mixed-Lineage-Leukemia homolog MLL5.
  7. inactivation of the Mll5 gene in mice results in a 30% reduction in the average representation of hematopoietic stem cells and in functional impairment of long-term hematopoietic repopulation potential under competitive conditions
    Title: MLL5 contributes to hematopoietic stem cell fitness and homeostasis.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10078

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables enzyme binding ISO
Inferred from Sequence Orthology
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables methylated histone binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables methylated histone binding ISO
Inferred from Sequence Orthology
more info
  
enables transcription coactivator activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within cell cycle IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within chromatin organization IEA
Inferred from Electronic Annotation
more info
  
involved_in epigenetic regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in erythrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in neutrophil activation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in neutrophil mediated immunity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of G1/S transition of mitotic cell cycle ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within regulation of cell cycle IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of Rpd3L-Expanded complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of Set3 complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of chromatin ISO
Inferred from Sequence Orthology
more info
  
located_in chromosome IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
part_of euchromatin ISO
Inferred from Sequence Orthology
more info
  
located_in nuclear body ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
inactive histone-lysine N-methyltransferase 2E
Names
histone-lysine N-methyltransferase MLL5
myeloid/lymphoid or mixed-lineage leukemia protein 5 homolog
NP_081260.1
XP_006535868.1
XP_006535869.1
XP_006535870.1
XP_017176579.1
XP_036021362.1

NCBI Reference Sequences (RefSeq)

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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_026984.2 → NP_081260.1  inactive histone-lysine N-methyltransferase 2E

    See identical proteins and their annotated locations for NP_081260.1

    Status: VALIDATED

    Source sequence(s)
    AC122022, AC138671
    Consensus CDS
    CCDS51430.1
    UniProtKB/Swiss-Prot
    Q3SYI5, Q3TUY2, Q3UG20, Q3V410, Q5FWI1, Q6P3B3, Q8BS65, Q8CFX7, Q9CVK6
    Related
    ENSMUSP00000092569.3, ENSMUST00000094962.9
    Conserved Domains (5) summary
    COG1196
    Location:483 → 716
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    PRK03427
    Location:1749 → 1857
    PRK03427; cell division protein ZipA; Provisional
    cd15550
    Location:120 → 163
    PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
    pfam05109
    Location:1350 → 1609
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    cd19182
    Location:323 → 451
    SET_KMT2E; SET domain found in inactive histone-lysine N-methyltransferase 2E (KMT2E) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    23638034..23709233
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006535805.4 → XP_006535868.1  inactive histone-lysine N-methyltransferase 2E isoform X1

    See identical proteins and their annotated locations for XP_006535868.1

    UniProtKB/Swiss-Prot
    Q3SYI5, Q3TUY2, Q3UG20, Q3V410, Q5FWI1, Q6P3B3, Q8BS65, Q8CFX7, Q9CVK6
    Related
    ENSMUSP00000110781.2, ENSMUST00000115128.8
    Conserved Domains (5) summary
    COG1196
    Location:483 → 716
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    PRK03427
    Location:1749 → 1857
    PRK03427; cell division protein ZipA; Provisional
    cd15550
    Location:120 → 163
    PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
    pfam05109
    Location:1350 → 1609
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    cd19182
    Location:323 → 451
    SET_KMT2E; SET domain found in inactive histone-lysine N-methyltransferase 2E (KMT2E) and similar proteins

  2. XM_006535806.3 → XP_006535869.1  inactive histone-lysine N-methyltransferase 2E isoform X2

    Conserved Domains (5) summary
    COG1196
    Location:483 → 716
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    PRK03427
    Location:1707 → 1815
    PRK03427; cell division protein ZipA; Provisional
    cd15550
    Location:120 → 163
    PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
    pfam05109
    Location:1308 → 1567
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    cd19182
    Location:323 → 451
    SET_KMT2E; SET domain found in inactive histone-lysine N-methyltransferase 2E (KMT2E) and similar proteins

  3. XM_006535807.3 → XP_006535870.1  inactive histone-lysine N-methyltransferase 2E isoform X3

    Conserved Domains (5) summary
    COG1196
    Location:483 → 746
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    PRK03427
    Location:1664 → 1772
    PRK03427; cell division protein ZipA; Provisional
    cd15550
    Location:120 → 163
    PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
    pfam05109
    Location:1265 → 1524
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    cd19182
    Location:323 → 451
    SET_KMT2E; SET domain found in inactive histone-lysine N-methyltransferase 2E (KMT2E) and similar proteins

  4. XM_017321090.2 → XP_017176579.1  inactive histone-lysine N-methyltransferase 2E isoform X4

    Conserved Domains (5) summary
    COG1196
    Location:483 → 746
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    PRK03427
    Location:1622 → 1730
    PRK03427; cell division protein ZipA; Provisional
    cd15550
    Location:120 → 163
    PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
    pfam05109
    Location:1223 → 1482
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    cd19182
    Location:323 → 451
    SET_KMT2E; SET domain found in inactive histone-lysine N-methyltransferase 2E (KMT2E) and similar proteins

  5. XM_036165469.1 → XP_036021362.1  inactive histone-lysine N-methyltransferase 2E isoform X5

    Conserved Domains (3) summary
    PRK13042
    Location:830 → 925
    PRK13042; superantigen-like protein SSL4; Reviewed
    PRK03427
    Location:1169 → 1277
    PRK03427; cell division protein ZipA; Provisional
    pfam05109
    Location:770 → 1029
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

RNA

  1. XR_003955707.2 RNA Sequence

  2. XR_389753.4 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3UG20.2 GenPept UniProtKB/Swiss-Prot:Q3UG20

Gene LinkOut

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