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    Ehmt1 euchromatic histone lysine methyltransferase 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 362078, updated on 13-Apr-2024

    Summary

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    Symbol
    Ehmt1provided by RGD
    Full Name
    euchromatic histone lysine methyltransferase 1provided by RGD
    Primary source
    RGD:1307588
    See related
    Ensembl:ENSRNOG00000007242 AllianceGenome:RGD:1307588
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable several functions, including C2H2 zinc finger domain binding activity; histone-lysine N-methyltransferase activity; and p53 binding activity. Involved in response to fungicide. Predicted to be located in nuclear body. Human ortholog(s) of this gene implicated in Kleefstra syndrome and Kleefstra syndrome 1. Orthologous to human EHMT1 (euchromatic histone lysine methyltransferase 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in Thymus (RPKM 140.5), Adrenal (RPKM 113.7) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Ehmt1 in Genome Data Viewer
    Location:
    3p13
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 3 NC_086021.1 (27978888..28127178, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 3 NC_051338.1 (7580680..7729046, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 3 NC_005102.4 (1966974..2123858, complement)

    Chromosome 3 - NC_086021.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC120101504 Neighboring gene calcium voltage-gated channel subunit alpha1 B Neighboring gene uncharacterized LOC134486057 Neighboring gene arrestin domain containing 1 Neighboring gene zinc finger, MYND-type containing 19

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Kleefstra syndrome in three adult patients: further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course. Verhoeven WM, et al. Am J Med Genet A, 2011 Oct. PMID 21910222
    2. Epigenetic regulation by G9a/GLP complex ameliorates amyloid-beta 1-42 induced deficits in long-term plasticity and synaptic tagging/capture in hippocampal pyramidal neurons. Sharma M, et al. Aging Cell, 2017 Oct. PMID 28665013, Free PMC Article
    3. Analysis of EHMT1 expression and its correlations with clinical significance in esophageal squamous cell cancer. Guan X, et al. Mol Clin Oncol, 2014 Jan. PMID 24649311, Free PMC Article
    4. Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome. Nillesen WM, et al. Hum Mutat, 2011 Jul. PMID 21538692
    5. Reduced exploration, increased anxiety, and altered social behavior: Autistic-like features of euchromatin histone methyltransferase 1 heterozygous knockout mice. Balemans MC, et al. Behav Brain Res, 2010 Mar 17. PMID 19896504

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. eIF4A3-mediated circEHMT1 regulation in retinal microvascular endothelial dysfunction in diabetic retinopathy.
      Title: eIF4A3-mediated circEHMT1 regulation in retinal microvascular endothelial dysfunction in diabetic retinopathy.
    2. Epigenetic regulation by G9a/GLP complex ameliorates amyloid-beta induced deficits in long-term plasticity and synaptic tagging/capture in hippocampal pyramidal neurons.
      Title: Epigenetic regulation by G9a/GLP complex ameliorates amyloid-beta 1-42 induced deficits in long-term plasticity and synaptic tagging/capture in hippocampal pyramidal neurons.
    3. miR-217-mediated, genetic, or pharmacological inactivation of EHMT1/2 was sufficient to promote pathological hypertrophy
      Title: The H3K9 dimethyltransferases EHMT1/2 protect against pathological cardiac hypertrophy.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables C2H2 zinc finger domain binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables histone H3K27 methyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables histone H3K9 methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone H3K9 methyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables methyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables p53 binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein-lysine N-methyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transcription corepressor binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA methylation-dependent heterochromatin formation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in chromatin organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in facultative heterochromatin formation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in peptidyl-lysine dimethylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cold-induced thermogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in regulation of embryonic development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to fungicide IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    histone-lysine N-methyltransferase EHMT1
    Names
    euchromatic histone methyltransferase 1
    euchromatic histone-lysine N-methyltransferase 1
    histone-lysine N-methyltransferase EHMT1-like
    histone-lysine N-methyltransferase, H3 lysine-9 specific 5
    NP_001402796.1
    NP_001402797.1
    XP_006233681.2
    XP_017447361.1
    XP_017447362.1
    XP_038961271.1
    XP_038961272.1
    XP_063140123.1
    XP_063140124.1
    XP_063140125.1

    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_001415867.1 → NP_001402796.1  histone-lysine N-methyltransferase EHMT1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000003
      Related
      ENSRNOP00000063511.4, ENSRNOT00000066777.4

    2. NM_001415868.1 → NP_001402797.1  histone-lysine N-methyltransferase EHMT1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000003

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086021.1 Reference GRCr8

      Range
      27978888..28127178 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017591873.3 → XP_017447362.1  histone-lysine N-methyltransferase EHMT1 isoform X6

      UniProtKB/TrEMBL
      D4A005

    2. XM_063284055.1 → XP_063140125.1  histone-lysine N-methyltransferase EHMT1 isoform X4

    3. XM_017591872.3 → XP_017447361.1  histone-lysine N-methyltransferase EHMT1 isoform X5

      UniProtKB/TrEMBL
      D4A005

    4. XM_063284054.1 → XP_063140124.1  histone-lysine N-methyltransferase EHMT1 isoform X3

    5. XM_063284053.1 → XP_063140123.1  histone-lysine N-methyltransferase EHMT1 isoform X2

      UniProtKB/TrEMBL
      A0A0G2K889

    6. XM_006233619.5 → XP_006233681.2  histone-lysine N-methyltransferase EHMT1 isoform X1

      UniProtKB/TrEMBL
      D4A005
      Related
      ENSRNOP00000074513.2
      Conserved Domains (6) summary
      smart00248
      Location:785 → 811
      ANK; ankyrin repeats
      smart00317
      Location:1137 → 1259
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd00204
      Location:811 → 937
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam05033
      Location:1025 → 1129
      Pre-SET; Pre-SET motif
      pfam12796
      Location:821 → 914
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:816 → 847
      ANK; ANK repeat [structural motif]

    7. XM_039105344.2 → XP_038961272.1  histone-lysine N-methyltransferase EHMT1 isoform X8

      Conserved Domains (4) summary
      sd00045
      Location:539 → 570
      ANK; ANK repeat [structural motif]
      cd10535
      Location:770 → 1000
      SET_EHMT1; SET domain (including pre-SET and post-SET domains) found in euchromatic histone-lysine N-methyltransferase 1 (EHMT1) and similar proteins
      pfam12796
      Location:544 → 637
      Ank_2; Ankyrin repeats (3 copies)
      cd20905
      Location:250 → 380
      EHMT_ZBD; Zinc-binding domain of euchromatic histone lysine methyltransferases EHMT1 and EHTM2

    8. XM_039105343.2 → XP_038961271.1  histone-lysine N-methyltransferase EHMT1 isoform X7

      UniProtKB/TrEMBL
      D4A005
      Conserved Domains (4) summary
      sd00045
      Location:782 → 813
      ANK; ANK repeat [structural motif]
      cd10535
      Location:1013 → 1243
      SET_EHMT1; SET domain (including pre-SET and post-SET domains) found in euchromatic histone-lysine N-methyltransferase 1 (EHMT1) and similar proteins
      pfam12796
      Location:787 → 880
      Ank_2; Ankyrin repeats (3 copies)
      cd20905
      Location:493 → 623
      EHMT_ZBD; Zinc-binding domain of euchromatic histone lysine methyltransferases EHMT1 and EHTM2

    RNA

    1. XR_010064648.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001108572.1: Suppressed sequence

      Description
      NM_001108572.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version

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