U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    EHMT1 euchromatic histone lysine methyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 79813, updated on 10-Dec-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    EHMT1provided by HGNC
    Official Full Name
    euchromatic histone lysine methyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:24650
    See related
    Ensembl:ENSG00000181090 MIM:607001; AllianceGenome:HGNC:24650
    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
    GLP; GLP1; KMT1D; KLEFS1; FP13812; EHMT1-IT1; EUHMTASE1; Eu-HMTase1
    Summary
    The protein encoded by this gene is a histone methyltransferase that methylates the lysine-9 position of histone H3. This action marks the genomic region packaged with these methylated histones for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2017]
    Expression
    Ubiquitous expression in testis (RPKM 9.7), spleen (RPKM 7.2) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See EHMT1 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (137619005..137836127)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149870687..150093989)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (140513457..140730579)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902318 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20634 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20635 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29355 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20636 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:140513865-140514583 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29356 Neighboring gene ARRDC1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 6441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29357 Neighboring gene arrestin domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140558803-140559307 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140559363-140560044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29359 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140569123-140569639 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:140573165-140573881 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140574605-140575206 Neighboring gene uncharacterized LOC124902319 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140575207-140575806 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140576860-140577836 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140584357-140584859 Neighboring gene SET pseudogene 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140589985-140590669 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140602949-140603910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20637 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140616633-140617551 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140617552-140618469 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140621001-140621500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29361 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140635595-140636095 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29364 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140643003-140643502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140652245-140652746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29368 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29369 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:140657628-140658827 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140674415-140675346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140676414-140676914 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:140679830-140680474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140681121-140681765 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140682311-140682830 Neighboring gene forkhead box H1 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140682831-140683350 Neighboring gene uncharacterized LOC651337 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29371 Neighboring gene 9q34.3 EHMT1 distal recombination region Neighboring gene uncharacterized LOC100133077 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:140767993-140769192 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140772427-140773342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140775611-140776112 Neighboring gene microRNA 602 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140780067-140780657 Neighboring gene uncharacterized LOC124902320 Neighboring gene calcium voltage-gated channel subunit alpha1 B

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. A structured assessment of motor function and behavior in patients with Kleefstra syndrome. Schmidt S, et al. Eur J Med Genet, 2016 Apr. PMID 26808425
    2. Biochemical validation of EHMT1 missense mutations in Kleefstra syndrome. Yamada A, et al. J Hum Genet, 2018 May. PMID 29459631
    3. EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction. de Boer A, et al. Mol Autism, 2018. PMID 29416845, Free PMC Article
    4. Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome. Okur V, et al. Am J Med Genet A, 2018 Aug. PMID 30063093, Free PMC Article
    5. Downregulation of histone methyltransferase EHMT2 in CD4(+) T-cells may protect HTLV-1-infected individuals against HAM/TSP development. Colaço CS, et al. Arch Virol, 2017 Oct. PMID 28608127

    See all (156) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Histone Methyltransferases G9a/Ehmt2 and GLP/Ehmt1 Are Associated with Cell Viability and Poorer Prognosis in Neuroblastoma and Ewing Sarcoma.
      Title: Histone Methyltransferases G9a/Ehmt2 and GLP/Ehmt1 Are Associated with Cell Viability and Poorer Prognosis in Neuroblastoma and Ewing Sarcoma.
    2. Demethylation of EHMT1/GLP Protein Reprograms Its Transcriptional Activity and Promotes Prostate Cancer Progression.
      Title: Demethylation of EHMT1/GLP Protein Reprograms Its Transcriptional Activity and Promotes Prostate Cancer Progression.
    3. Cell consequences of loss of function of the epigenetic factor EHMT1.
      Title: Cell consequences of loss of function of the epigenetic factor EHMT1.
    4. EHMT1 knockdown induces apoptosis and cell cycle arrest in lung cancer cells by increasing CDKN1A expression.
      Title: EHMT1 knockdown induces apoptosis and cell cycle arrest in lung cancer cells by increasing CDKN1A expression.
    5. EHMT1/EHMT2 in EMT, cancer stemness and drug resistance: emerging evidence and mechanisms.
      Title: EHMT1/EHMT2 in EMT, cancer stemness and drug resistance: emerging evidence and mechanisms.
    6. EHMT1 promotes tumor progression and maintains stemness by regulating ALDH1A1 expression in alveolar rhabdomyosarcoma.
      Title: EHMT1 promotes tumor progression and maintains stemness by regulating ALDH1A1 expression in alveolar rhabdomyosarcoma.
    7. Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation.
      Title: Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation.
    8. Heterodimerization of H3K9 histone methyltransferases G9a and GLP activates methyl reading and writing capabilities.
      Title: Heterodimerization of H3K9 histone methyltransferases G9a and GLP activates methyl reading and writing capabilities.
    9. SPOP mutation induces DNA methylation via stabilizing GLP/G9a.
      Title: SPOP mutation induces DNA methylation via stabilizing GLP/G9a.
    10. Clinical phenotypes and molecular findings in ten Chinese patients with Kleefstra Syndrome Type 1 due to EHMT1 defects.
      Title: Clinical phenotypes and molecular findings in ten Chinese patients with Kleefstra Syndrome Type 1 due to EHMT1 defects.
    Submit: New GeneRIF Correction See all GeneRIFs (56)

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Kleefstra syndrome 1
    MedGen: C0795833 OMIM: 610253 GeneReviews: Kleefstra Syndrome
    		Compare labs

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • FLJ12879, FLJ40292, FLJ46107, KIAA1876, DKFZp667M072

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables C2H2 zinc finger domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3K27 methyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables histone H3K9 methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone H3K9 methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone H3K9 methyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables histone H3K9me2 methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables p53 binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-lysine N-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription corepressor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA methylation-dependent constitutive heterochromatin formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in chromatin organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in epigenetic regulation of gene expression IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in facultative heterochromatin formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in peptidyl-lysine dimethylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in peptidyl-lysine monomethylation ISS
    Inferred from Sequence or Structural Similarity
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to fungicide IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    histone-lysine N-methyltransferase EHMT1
    Names
    EHMT1 intronic transcript 1
    G9a-like protein 1
    H3-K9-HMTase 5
    euchromatic histone-lysine N-methyltransferase 1
    histone H3-K9 methyltransferase 5
    histone-lysine N-methyltransferase, H3 lysine-9 specific 5
    lysine N-methyltransferase 1D
    NP_001138999.1
    NP_001341188.1
    NP_001341192.1
    NP_001341540.1
    NP_001341541.1
    NP_079033.4
    XP_005266167.1
    XP_011517323.1
    XP_011517324.1
    XP_011517325.1
    XP_011517331.1
    XP_011517332.1
    XP_011517333.1
    XP_016870623.1
    XP_016870627.1
    XP_024303445.1
    XP_024303446.2
    XP_047279828.1
    XP_047279829.1
    XP_047279830.1
    XP_047279831.1
    XP_047279832.1
    XP_047279833.1
    XP_047279834.1
    XP_047279835.1
    XP_047279836.1
    XP_047279837.1
    XP_047279838.1
    XP_047279839.1
    XP_047279840.1
    XP_047279841.1
    XP_047279842.1
    XP_047279843.1
    XP_047279844.1
    XP_047279845.1
    XP_047279846.1
    XP_054219788.1
    XP_054219789.1
    XP_054219790.1
    XP_054219791.1
    XP_054219792.1
    XP_054219793.1
    XP_054219794.1
    XP_054219795.1
    XP_054219796.1
    XP_054219797.1
    XP_054219798.1
    XP_054219799.1
    XP_054219800.1
    XP_054219801.1
    XP_054219802.1
    XP_054219803.1
    XP_054219804.1
    XP_054219805.1
    XP_054219806.1
    XP_054219807.1
    XP_054219808.1
    XP_054219809.1
    XP_054219810.1
    XP_054219811.1
    XP_054219812.1
    XP_054219813.1
    XP_054219814.1
    XP_054219815.1
    XP_054219816.1
    XP_054219817.1
    XP_054219818.1
    XP_054219819.1
    XP_054219820.1
    XP_054219821.1
    XP_054219822.1
    XP_054219823.1
    XP_054219824.1
    XP_054219825.1
    XP_054219826.1
    XP_054219827.1
    XP_054219828.1
    XP_054219829.1
    XP_054219830.1
    XP_054219831.1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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_011776.1 RefSeqGene

      Range
      5014..222136
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145527.2 → NP_001138999.1  histone-lysine N-methyltransferase EHMT1 isoform 2

      See identical proteins and their annotated locations for NP_001138999.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AB028932, BC047504, BM681619
      Consensus CDS
      CCDS56595.1
      UniProtKB/Swiss-Prot
      Q9H9B1
      Related
      ENSP00000417328.1, ENST00000462484.5
      Conserved Domains (3) summary
      cd00204
      Location:742 → 796
      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 ...
      pfam13637
      Location:742 → 793
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:742 → 768
      ANK; ANK repeat [structural motif]

    2. NM_001354259.2 → NP_001341188.1  histone-lysine N-methyltransferase EHMT1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' region and differs in the 3' exon structure compared to variant 1. It initiates translation at a downstream start codon. The encoded isoform (3) has a shorter N-terminus and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK022941, AL590627, AL611925, BC047504
      Conserved Domains (2) summary
      cd00204
      Location:711 → 802
      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 ...
      sd00045
      Location:743 → 772
      ANK; ANK repeat [structural motif]

    3. NM_001354263.2 → NP_001341192.1  histone-lysine N-methyltransferase EHMT1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AL365502, AL590627, AL611925
      Conserved Domains (5) summary
      smart00317
      Location:1119 → 1241
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd00204
      Location:793 → 919
      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 ...
      sd00045
      Location:798 → 829
      ANK; ANK repeat [structural motif]
      pfam05033
      Location:1007 → 1111
      Pre-SET; Pre-SET motif
      cl26073
      Location:740 → 999
      Ank_2; Ankyrin repeats (3 copies)

    4. NM_001354611.2 → NP_001341540.1  histone-lysine N-methyltransferase EHMT1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks multiple 3' exons and contains an alternate 3' coding region and 3' UTR compared to variant 1. The encoded isoform (5) has a shorter, distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL365502, AL590627
      Consensus CDS
      CCDS87721.1
      UniProtKB/TrEMBL
      A0A1B0GUD1, A0A1B0GVZ8
      Related
      ENSP00000490056.1, ENST00000629335.2

    5. NM_001354612.2 → NP_001341541.1  histone-lysine N-methyltransferase EHMT1 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an exon in the 5' region, initiates translation at a downstream start codon and differs in the 3' coding region and 3' UTR compared to variant 1. The encoded isoform (6) has a shorter N-terminus and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL365502, AL590627
      UniProtKB/TrEMBL
      A0A1B0GVZ8
      Related
      ENSP00000485900.1, ENST00000626066.2

    6. NM_024757.5 → NP_079033.4  histone-lysine N-methyltransferase EHMT1 isoform 1

      See identical proteins and their annotated locations for NP_079033.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB028932, BC011608, BC047504, CA426038
      Consensus CDS
      CCDS7050.2
      UniProtKB/Swiss-Prot
      B1AQ58, B1AQ59, Q86X08, Q8TCN7, Q96F53, Q96JF1, Q96KH4, Q9H9B1
      Related
      ENSP00000417980.1, ENST00000460843.6
      Conserved Domains (4) summary
      sd00045
      Location:805 → 836
      ANK; ANK repeat [structural motif]
      cd10535
      Location:1036 → 1266
      SET_EHMT1; SET domain (including pre-SET and post-SET domains) found in euchromatic histone-lysine N-methyltransferase 1 (EHMT1) and similar proteins
      cd20905
      Location:514 → 644
      EHMT_ZBD; Zinc-binding domain of euchromatic histone lysine methyltransferases EHMT1 and EHTM2
      pfam12796
      Location:810 → 903
      Ank_2; Ankyrin repeats (3 copies)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      137619005..137836127
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423872.1 → XP_047279828.1  histone-lysine N-methyltransferase EHMT1 isoform X3

    2. XM_047423875.1 → XP_047279831.1  histone-lysine N-methyltransferase EHMT1 isoform X8

    3. XM_047423878.1 → XP_047279834.1  histone-lysine N-methyltransferase EHMT1 isoform X10

      UniProtKB/TrEMBL
      A0A1B0GV09

    4. XM_005266110.2 → XP_005266167.1  histone-lysine N-methyltransferase EHMT1 isoform X10

      See identical proteins and their annotated locations for XP_005266167.1

      UniProtKB/TrEMBL
      A0A1B0GV09
      Conserved Domains (6) summary
      smart00248
      Location:741 → 769
      ANK; ankyrin repeats
      smart00317
      Location:1095 → 1217
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd00204
      Location:769 → 895
      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:983 → 1087
      Pre-SET; Pre-SET motif
      pfam12796
      Location:779 → 872
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:774 → 805
      ANK; ANK repeat [structural motif]

    5. XM_047423883.1 → XP_047279839.1  histone-lysine N-methyltransferase EHMT1 isoform X15

    6. XM_047423881.1 → XP_047279837.1  histone-lysine N-methyltransferase EHMT1 isoform X13

    7. XM_017015138.2 → XP_016870627.1  histone-lysine N-methyltransferase EHMT1 isoform X11

    8. XM_047423884.1 → XP_047279840.1  histone-lysine N-methyltransferase EHMT1 isoform X16

    9. XM_047423882.1 → XP_047279838.1  histone-lysine N-methyltransferase EHMT1 isoform X14

    10. XM_047423885.1 → XP_047279841.1  histone-lysine N-methyltransferase EHMT1 isoform X17

    11. XM_024447678.2 → XP_024303446.2  histone-lysine N-methyltransferase EHMT1 isoform X19

    12. XM_047423886.1 → XP_047279842.1  histone-lysine N-methyltransferase EHMT1 isoform X20

    13. XM_047423888.1 → XP_047279844.1  histone-lysine N-methyltransferase EHMT1 isoform X22

    14. XM_047423887.1 → XP_047279843.1  histone-lysine N-methyltransferase EHMT1 isoform X21

      Related
      ENSP00000489961.1, ENST00000636027.1

    15. XM_047423889.1 → XP_047279845.1  histone-lysine N-methyltransferase EHMT1 isoform X23

    16. XM_011519022.4 → XP_011517324.1  histone-lysine N-methyltransferase EHMT1 isoform X2

      Conserved Domains (6) summary
      smart00248
      Location:774 → 802
      ANK; ankyrin repeats
      smart00317
      Location:1128 → 1250
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd00204
      Location:802 → 928
      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:1016 → 1120
      Pre-SET; Pre-SET motif
      pfam12796
      Location:812 → 905
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:807 → 838
      ANK; ANK repeat [structural motif]

    17. XM_017015134.2 → XP_016870623.1  histone-lysine N-methyltransferase EHMT1 isoform X5

    18. XM_047423873.1 → XP_047279829.1  histone-lysine N-methyltransferase EHMT1 isoform X6

    19. XM_047423879.1 → XP_047279835.1  histone-lysine N-methyltransferase EHMT1 isoform X11

    20. XM_011519021.4 → XP_011517323.1  histone-lysine N-methyltransferase EHMT1 isoform X1

      Conserved Domains (4) summary
      COG0666
      Location:765 → 932
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:808 → 839
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:912 → 962
      Ank_4; Ankyrin repeats (many copies)
      cd10535
      Location:1039 → 1269
      SET_EHMT1; SET domain (including pre-SET and post-SET domains) found in euchromatic histone-lysine N-methyltransferase 1 (EHMT1) and similar proteins

    21. XM_047423880.1 → XP_047279836.1  histone-lysine N-methyltransferase EHMT1 isoform X12

    22. XM_047423874.1 → XP_047279830.1  histone-lysine N-methyltransferase EHMT1 isoform X7

    23. XM_011519023.4 → XP_011517325.1  histone-lysine N-methyltransferase EHMT1 isoform X4

      Conserved Domains (6) summary
      smart00248
      Location:768 → 796
      ANK; ankyrin repeats
      smart00317
      Location:1122 → 1244
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd00204
      Location:796 → 922
      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:1010 → 1114
      Pre-SET; Pre-SET motif
      pfam12796
      Location:806 → 899
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:801 → 832
      ANK; ANK repeat [structural motif]

    24. XM_047423876.1 → XP_047279832.1  histone-lysine N-methyltransferase EHMT1 isoform X9

    25. XM_047423877.1 → XP_047279833.1  histone-lysine N-methyltransferase EHMT1 isoform X10

      UniProtKB/TrEMBL
      A0A1B0GV09
      Related
      ENSP00000490328.1, ENST00000637161.1

    26. XM_024447677.2 → XP_024303445.1  histone-lysine N-methyltransferase EHMT1 isoform X18

      Conserved Domains (5) summary
      smart00317
      Location:834 → 956
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd00204
      Location:508 → 634
      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 ...
      sd00045
      Location:513 → 544
      ANK; ANK repeat [structural motif]
      pfam05033
      Location:722 → 826
      Pre-SET; Pre-SET motif
      pfam12796
      Location:450 → 544
      Ank_2; Ankyrin repeats (3 copies)

    27. XM_011519029.4 → XP_011517331.1  histone-lysine N-methyltransferase EHMT1 isoform X24

      UniProtKB/TrEMBL
      A0A0C4DGF8
      Conserved Domains (6) summary
      smart00248
      Location:249 → 277
      ANK; ankyrin repeats
      smart00317
      Location:603 → 725
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd00204
      Location:277 → 403
      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:491 → 595
      Pre-SET; Pre-SET motif
      pfam12796
      Location:287 → 380
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:282 → 313
      ANK; ANK repeat [structural motif]

    28. XM_011519030.4 → XP_011517332.1  histone-lysine N-methyltransferase EHMT1 isoform X25

      Conserved Domains (7) summary
      smart00248
      Location:199 → 228
      ANK; ankyrin repeats
      smart00317
      Location:387 → 509
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd00204
      Location:61 → 187
      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:275 → 379
      Pre-SET; Pre-SET motif
      pfam12796
      Location:71 → 164
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:54 → 87
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:66 → 97
      ANK; ANK repeat [structural motif]

    29. XM_047423890.1 → XP_047279846.1  histone-lysine N-methyltransferase EHMT1 isoform X26

    30. XM_011519031.2 → XP_011517333.1  histone-lysine N-methyltransferase EHMT1 isoform X26

      See identical proteins and their annotated locations for XP_011517333.1

      Conserved Domains (5) summary
      smart00317
      Location:316 → 438
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd00204
      Location:23 → 149
      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:204 → 308
      Pre-SET; Pre-SET motif
      pfam12796
      Location:1 → 93
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:28 → 60
      ANK; ANK repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      149870687..150093989
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363815.1 → XP_054219790.1  histone-lysine N-methyltransferase EHMT1 isoform X3

    2. XM_054363823.1 → XP_054219798.1  histone-lysine N-methyltransferase EHMT1 isoform X8

    3. XM_054363828.1 → XP_054219803.1  histone-lysine N-methyltransferase EHMT1 isoform X10

      UniProtKB/TrEMBL
      A0A1B0GV09

    4. XM_054363829.1 → XP_054219804.1  histone-lysine N-methyltransferase EHMT1 isoform X31

    5. XM_054363819.1 → XP_054219794.1  histone-lysine N-methyltransferase EHMT1 isoform X27

    6. XM_054363835.1 → XP_054219810.1  histone-lysine N-methyltransferase EHMT1 isoform X33

    7. XM_054363832.1 → XP_054219807.1  histone-lysine N-methyltransferase EHMT1 isoform X32

    8. XM_054363820.1 → XP_054219795.1  histone-lysine N-methyltransferase EHMT1 isoform X28

    9. XM_054363837.1 → XP_054219812.1  histone-lysine N-methyltransferase EHMT1 isoform X34

    10. XM_054363825.1 → XP_054219800.1  histone-lysine N-methyltransferase EHMT1 isoform X10

      UniProtKB/TrEMBL
      A0A1B0GV09

    11. XM_054363838.1 → XP_054219813.1  histone-lysine N-methyltransferase EHMT1 isoform X15

    12. XM_054363834.1 → XP_054219809.1  histone-lysine N-methyltransferase EHMT1 isoform X13

    13. XM_054363831.1 → XP_054219806.1  histone-lysine N-methyltransferase EHMT1 isoform X11

    14. XM_054363839.1 → XP_054219814.1  histone-lysine N-methyltransferase EHMT1 isoform X16

    15. XM_054363836.1 → XP_054219811.1  histone-lysine N-methyltransferase EHMT1 isoform X14

    16. XM_054363840.1 → XP_054219815.1  histone-lysine N-methyltransferase EHMT1 isoform X17

    17. XM_054363851.1 → XP_054219826.1  histone-lysine N-methyltransferase EHMT1 isoform X40

    18. XM_054363848.1 → XP_054219823.1  histone-lysine N-methyltransferase EHMT1 isoform X39

    19. XM_054363850.1 → XP_054219825.1  histone-lysine N-methyltransferase EHMT1 isoform X22

    20. XM_054363852.1 → XP_054219827.1  histone-lysine N-methyltransferase EHMT1 isoform X23

    21. XM_054363842.1 → XP_054219817.1  histone-lysine N-methyltransferase EHMT1 isoform X19

    22. XM_054363844.1 → XP_054219819.1  histone-lysine N-methyltransferase EHMT1 isoform X36

    23. XM_054363843.1 → XP_054219818.1  histone-lysine N-methyltransferase EHMT1 isoform X35

    24. XM_054363845.1 → XP_054219820.1  histone-lysine N-methyltransferase EHMT1 isoform X37

    25. XM_054363847.1 → XP_054219822.1  histone-lysine N-methyltransferase EHMT1 isoform X20

    26. XM_054363849.1 → XP_054219824.1  histone-lysine N-methyltransferase EHMT1 isoform X21

    27. XM_054363846.1 → XP_054219821.1  histone-lysine N-methyltransferase EHMT1 isoform X38

    28. XM_054363853.1 → XP_054219828.1  histone-lysine N-methyltransferase EHMT1 isoform X41

    29. XM_054363814.1 → XP_054219789.1  histone-lysine N-methyltransferase EHMT1 isoform X2

    30. XM_054363822.1 → XP_054219797.1  histone-lysine N-methyltransferase EHMT1 isoform X29

    31. XM_054363817.1 → XP_054219792.1  histone-lysine N-methyltransferase EHMT1 isoform X5

    32. XM_054363826.1 → XP_054219801.1  histone-lysine N-methyltransferase EHMT1 isoform X30

    33. XM_054363818.1 → XP_054219793.1  histone-lysine N-methyltransferase EHMT1 isoform X6

    34. XM_054363830.1 → XP_054219805.1  histone-lysine N-methyltransferase EHMT1 isoform X11

    35. XM_054363833.1 → XP_054219808.1  histone-lysine N-methyltransferase EHMT1 isoform X12

    36. XM_054363821.1 → XP_054219796.1  histone-lysine N-methyltransferase EHMT1 isoform X7

    37. XM_054363813.1 → XP_054219788.1  histone-lysine N-methyltransferase EHMT1 isoform X1

    38. XM_054363816.1 → XP_054219791.1  histone-lysine N-methyltransferase EHMT1 isoform X4

    39. XM_054363824.1 → XP_054219799.1  histone-lysine N-methyltransferase EHMT1 isoform X9

    40. XM_054363827.1 → XP_054219802.1  histone-lysine N-methyltransferase EHMT1 isoform X10

      UniProtKB/TrEMBL
      A0A1B0GV09

    41. XM_054363841.1 → XP_054219816.1  histone-lysine N-methyltransferase EHMT1 isoform X18

    42. XM_054363854.1 → XP_054219829.1  histone-lysine N-methyltransferase EHMT1 isoform X24

      UniProtKB/TrEMBL
      A0A0C4DGF8

    43. XM_054363855.1 → XP_054219830.1  histone-lysine N-methyltransferase EHMT1 isoform X25

    44. XM_054363856.1 → XP_054219831.1  histone-lysine N-methyltransferase EHMT1 isoform X26

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001039765.1: Suppressed sequence

      Description
      NM_001039765.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H9B1.4 GenPept UniProtKB/Swiss-Prot:Q9H9B1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools