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

Summary

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 several functions, including histone H3K4 methyltransferase activity; methylated histone binding activity; and transcription coactivator activity. Involved in several processes, including erythrocyte differentiation; neutrophil activation; and neutrophil mediated immunity. Predicted to be located in euchromatin and nuclear body. Predicted to be part of Rpd3L-Expanded complex and Set3 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, Nov 2024]
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

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_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.

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Variation

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Alleles

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

Endonuclease-mediated (2) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_21397-21398:1032898998:1 (e-PCR)
- UniSTS:268546

AW226533 (e-PCR)
- UniSTS:165384

NoName (e-PCR)
- UniSTS:235139

BB312941 (e-PCR)
- UniSTS:207758

AW492537 (e-PCR)
- UniSTS:179136

Mll5 (e-PCR), detects polymorphism
- UniSTS:547265

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables enzyme binding	IEA Inferred from Electronic Annotation more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables histone H3K4 methyltransferase activity	ISS Inferred from Sequence or Structural Similarity 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	IEA Inferred from Electronic Annotation more info
enables methylated histone binding	ISO Inferred from Sequence Orthology more info
enables transcription coactivator activity	ISO Inferred from Sequence Orthology more info
enables transcription coactivator activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
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 DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of G1/S transition of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of G1/S transition of mitotic cell cycle	ISO Inferred from Sequence Orthology more info
involved_in protein-containing complex organization	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in retinoic acid receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity 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
located_in centrosome	IEA Inferred from Electronic Annotation more info
located_in chromatin	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in euchromatin	IEA Inferred from Electronic Annotation more info
located_in euchromatin	ISO Inferred from Sequence Orthology more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation 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

EC 2.1.1.354

XP_006535868.1

EC 2.1.1.354

XP_006535869.1

EC 2.1.1.354

XP_006535870.1

EC 2.1.1.354

XP_017176579.1

EC 2.1.1.354

XP_036021362.1

EC 2.1.1.354

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)

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

NC_000071.7 Reference GRCm39 C57BL/6J

Range

23638034..23709233

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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)