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

Gene ID: 79813, updated on 14-Nov-2024

Summary

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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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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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

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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

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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

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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)

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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.

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

  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

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