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

Gene ID: 55904, updated on 26-May-2016
Official Symbol
KMT2Eprovided by HGNC
Official Full Name
lysine methyltransferase 2Eprovided by HGNC
Primary source
HGNC:HGNC:18541
See related
Ensembl:ENSG00000005483 HPRD:10528; MIM:608444; Vega:OTTHUMG00000157403
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; 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]
Orthologs
Location:
7q22.1
Exon count:
29
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (105014190..105114085)
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 uncharacterized LOC101927902 Neighboring gene long intergenic non-protein coding RNA 1004 Neighboring gene KMT2E antisense RNA 1 (head to head) Neighboring gene SRSF protein kinase 2 Neighboring gene ribosomal protein L36 pseudogene 12 Neighboring gene RWD domain containing 4 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

Products Interactant Other Gene Complex Source Pubs Description

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
 
histone methyltransferase activity (H3-K4 specific) IDA
Inferred from Direct Assay
more info
 
histone-lysine N-methyltransferase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity IMP
Inferred from Mutant Phenotype
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
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
 
cellular response to retinoic acid IDA
Inferred from Direct Assay
more info
 
erythrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
histone H3-K4 methylation IDA
Inferred from Direct Assay
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 granulocyte differentiation IMP
Inferred from Mutant Phenotype
more info
 
positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
 
retinoic acid receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
MLL5-L complex IDA
Inferred from Direct Assay
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
intercellular bridge IDA
Inferred from Direct Assay
more info
 
intracellular membrane-bounded organelle 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
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
histone-lysine N-methyltransferase 2E
Names
histone-lysine N-methyltransferase MLL5
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

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
    5001..104896
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018682.3NP_061152.3  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)
    AF519459, AY147037
    Consensus CDS
    CCDS34723.1
    UniProtKB/Swiss-Prot
    Q8IZD2
    Related
    ENSP00000257745, ENST00000257745
    Conserved Domains (4) summary
    smart00317
    Location:343452
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    pfam09606
    Location:13811836
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam09805
    Location:560641
    Nop25; Nucleolar protein 12 (25kDa)
    cd15550
    Location:120163
    PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
  2. NM_182931.2NP_891847.1  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)
    AF519459, AY147037
    Consensus CDS
    CCDS34723.1
    UniProtKB/Swiss-Prot
    Q8IZD2
    Related
    ENSP00000312379, OTTHUMP00000212083, ENST00000311117, OTTHUMT00000348697
    Conserved Domains (4) summary
    smart00317
    Location:343452
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    pfam09606
    Location:13811836
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam09805
    Location:560641
    Nop25; Nucleolar protein 12 (25kDa)
    cd15550
    Location:120163
    PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

    Range
    105014190..105114085
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250493.1XP_005250550.1  

    See identical proteins and their annotated locations for XP_005250550.1

    UniProtKB/Swiss-Prot
    Q8IZD2
    Conserved Domains (4) summary
    smart00317
    Location:343452
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    pfam09606
    Location:13811836
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam09805
    Location:560641
    Nop25; Nucleolar protein 12 (25kDa)
    cd15550
    Location:120163
    PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
  2. XM_011516400.1XP_011514702.1  

    See identical proteins and their annotated locations for XP_011514702.1

    UniProtKB/Swiss-Prot
    Q8IZD2
    Conserved Domains (4) summary
    smart00317
    Location:343452
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    pfam09606
    Location:13811836
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam09805
    Location:560641
    Nop25; Nucleolar protein 12 (25kDa)
    cd15550
    Location:120163
    PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
  3. XM_006716049.1XP_006716112.1  

    UniProtKB/Swiss-Prot
    Q8IZD2
    Conserved Domains (4) summary
    smart00317
    Location:343452
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    pfam09606
    Location:13391794
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam09805
    Location:560641
    Nop25; Nucleolar protein 12 (25kDa)
    cd15550
    Location:120163
    PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)

RNA

  1. XR_927489.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    104587944..104687855
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.