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

    Gene ID: 55904, updated on 8-Jul-2021

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KMT2E in Genome Data Viewer
    Location:
    7q22.3
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (104940949..105115019)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (104654652..104755466)

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

    NEW Try the new Transcript table

    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), LRG_1404

    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 109.20210514

    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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