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KMT2E lysine methyltransferase 2E (inactive) [ Homo sapiens (human) ]

Gene ID: 55904, updated on 24-Nov-2020

Summary

Official Symbol
KMT2Eprovided by HGNC
Official Full Name
lysine methyltransferase 2E (inactive)provided by HGNC
Primary source
HGNC:HGNC:18541
See related
Ensembl:ENSG00000005483 MIM:608444
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
MLL5; NKp44L; ODLURO; HDCMC04P
Summary
This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in ovary (RPKM 19.1), endometrium (RPKM 16.5) and 25 other tissues See more
Orthologs

Genomic context

See KMT2E in Genome Data Viewer
Location:
7q22.3
Exon count:
33
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (104940949..105115019)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (104654637..104754532)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene LHFPL tetraspan subfamily member 3 Neighboring gene LHFPL3 antisense RNA 1 Neighboring gene LHFPL3 antisense RNA 2 Neighboring gene Sharpr-MPRA regulatory region 8680 Neighboring gene RNA, 7SL, cytoplasmic 8, pseudogene Neighboring gene long intergenic non-protein coding RNA 1004 Neighboring gene KMT2E antisense RNA 1 Neighboring gene SRSF protein kinase 2 Neighboring gene ribosomal protein L36 pseudogene 12 Neighboring gene RWD domain containing 4 pseudogene 1

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?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env A linear peptide corresponding to amino-acid residues 102-107 of HIV-1 gp41 induces the expression of NK-p44 ligand in natural killer (NK) cells PubMed
env HIV-1 gp41 mutants W614A, S615A, N616A, and S618A downregulates the cellular surface expression of NKp44L on CD4+ T cells PubMed
env Antibodies raised against a 3S motif (residues 609-623) of HIV-1 gp41 from HIV-infected patients inhibit NKp44L expression and CD4 sensitivity to NK lysis PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10078, FLJ14026, MGC70452

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
NOT histone-lysine N-methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
methylated histone binding IDA
Inferred from Direct Assay
more info
PubMed 
methylated histone binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA methylation ISS
Inferred from Sequence or Structural Similarity
more info
 
cell cycle arrest IEA
Inferred from Electronic Annotation
more info
 
erythrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
histone lysine methylation IEA
Inferred from Electronic Annotation
more info
 
neutrophil activation ISS
Inferred from Sequence or Structural Similarity
more info
 
neutrophil mediated immunity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of G1/S transition of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of histone H3-K4 trimethylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of megakaryocyte differentiation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
chromatin IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
microtubule organizing center IEA
Inferred from Electronic Annotation
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nuclear speck IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
transcriptionally active chromatin IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
inactive histone-lysine N-methyltransferase 2E
Names
histone-lysine N-methyltransferase 2E
histone-lysine N-methyltransferase MLL5
inactive lysine N-methyltransferase 2E
lysine (K)-specific methyltransferase 2E
myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)
myeloid/lymphoid or mixed-lineage leukemia protein 5
NP_061152.3
NP_891847.1
XP_005250550.1
XP_011514702.1
XP_016867924.1
XP_024302605.1

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.

Genomic

  1. NG_033949.1 RefSeqGene

    Range
    5016..105830
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018682.4NP_061152.3  inactive histone-lysine N-methyltransferase 2E

    See identical proteins and their annotated locations for NP_061152.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal exon in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC005070, AF519459, AY147037
    Consensus CDS
    CCDS34723.1
    UniProtKB/Swiss-Prot
    Q8IZD2
    Related
    ENSP00000257745.4, ENST00000257745.8
    Conserved Domains (7) summary
    smart00317
    Location:343452
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    cd15550
    Location:120163
    PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
    pfam09606
    Location:14421829
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    cl25549
    Location:550605
    ARGLU; Arginine and glutamate-rich 1
    cl25742
    Location:561669
    ERM; Ezrin/radixin/moesin family
    cl25751
    Location:13101502
    DUF4045; Domain of unknown function (DUF4045)
    cl26464
    Location:17411846
    Atrophin-1; Atrophin-1 family
  2. NM_182931.3NP_891847.1  inactive histone-lysine N-methyltransferase 2E

    See identical proteins and their annotated locations for NP_891847.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC005070, AF519459, AY147037
    Consensus CDS
    CCDS34723.1
    UniProtKB/Swiss-Prot
    Q8IZD2
    Related
    ENSP00000312379.3, ENST00000311117.8
    Conserved Domains (7) summary
    smart00317
    Location:343452
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    cd15550
    Location:120163
    PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
    pfam09606
    Location:14421829
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    cl25549
    Location:550605
    ARGLU; Arginine and glutamate-rich 1
    cl25742
    Location:561669
    ERM; Ezrin/radixin/moesin family
    cl25751
    Location:13101502
    DUF4045; Domain of unknown function (DUF4045)
    cl26464
    Location:17411846
    Atrophin-1; Atrophin-1 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    104940949..105115019
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446837.1XP_024302605.1  inactive histone-lysine N-methyltransferase 2E isoform X1

    Conserved Domains (7) summary
    smart00317
    Location:343452
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    cd15550
    Location:120163
    PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
    pfam09606
    Location:14421829
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    cl25549
    Location:550605
    ARGLU; Arginine and glutamate-rich 1
    cl25742
    Location:561669
    ERM; Ezrin/radixin/moesin family
    cl25751
    Location:13101502
    DUF4045; Domain of unknown function (DUF4045)
    cl26464
    Location:17411846
    Atrophin-1; Atrophin-1 family
  2. XM_011516400.2XP_011514702.1  inactive histone-lysine N-methyltransferase 2E isoform X1

    See identical proteins and their annotated locations for XP_011514702.1

    UniProtKB/Swiss-Prot
    Q8IZD2
    Conserved Domains (7) summary
    smart00317
    Location:343452
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    cd15550
    Location:120163
    PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
    pfam09606
    Location:14421829
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    cl25549
    Location:550605
    ARGLU; Arginine and glutamate-rich 1
    cl25742
    Location:561669
    ERM; Ezrin/radixin/moesin family
    cl25751
    Location:13101502
    DUF4045; Domain of unknown function (DUF4045)
    cl26464
    Location:17411846
    Atrophin-1; Atrophin-1 family
  3. XM_017012435.2XP_016867924.1  inactive histone-lysine N-methyltransferase 2E isoform X2

  4. XM_005250493.1XP_005250550.1  inactive histone-lysine N-methyltransferase 2E isoform X1

    See identical proteins and their annotated locations for XP_005250550.1

    UniProtKB/Swiss-Prot
    Q8IZD2
    Conserved Domains (7) summary
    smart00317
    Location:343452
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    cd15550
    Location:120163
    PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
    pfam09606
    Location:14421829
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    cl25549
    Location:550605
    ARGLU; Arginine and glutamate-rich 1
    cl25742
    Location:561669
    ERM; Ezrin/radixin/moesin family
    cl25751
    Location:13101502
    DUF4045; Domain of unknown function (DUF4045)
    cl26464
    Location:17411846
    Atrophin-1; Atrophin-1 family

RNA

  1. XR_001744836.2 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_032187.1: Suppressed sequence

    Description
    NM_032187.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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