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

Summary

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

Location:: 9q34.3

Exon count:: 38

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (137619005..137836127)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (149870687..150093989)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (140513457..140730579)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation.
Title: Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation.
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.
SPOP mutation induces DNA methylation via stabilizing GLP/G9a.
Title: SPOP mutation induces DNA methylation via stabilizing GLP/G9a.
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.
Targeting H3K9 methyltransferase G9a and its related molecule GLP as a potential therapeutic strategy for cancer.
Title: Targeting H3K9 methyltransferase G9a and its related molecule GLP as a potential therapeutic strategy for cancer.
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.
Title: 9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.
Results show that EHMT1 is overexpressed in PARP inhibitors (PARPi)-resistant high-grade serous ovarian carcinoma (HGSOC) cell lines and patient-derived ascites. Combined EHMT1/2 high expression level correlates with poor patient outcomes. Knockdown or inhibition of EHMT1/2 restores PARPi sensitivity suggesting their implication in PARPi resistance.
Title: Histone methyltransferases EHMT1 and EHMT2 (GLP/G9A) maintain PARP inhibitor resistance in high-grade serous ovarian carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (53)

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

Copy number response

Description
Copy number response Triplosensitivity Little evidence for dosage pathogenicity (Last evaluated 2012-07-06) ClinGen Genome Curation PagePubMed Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2012-07-06) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11945 (e-PCR)
- UniSTS:7732

D9S1838 (e-PCR)
- UniSTS:9019

SHGC-149365 (e-PCR)
- UniSTS:176964

RH48863 (e-PCR)
- UniSTS:70219

D10S2448 (e-PCR)
- UniSTS:474444

SHGC-82935 (e-PCR)
- UniSTS:101248

SHGC-111534 (e-PCR)
- UniSTS:168383

Homology

Homologs of the EHMT1 gene: The EHMT1 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 437 organisms have orthologs with human gene EHMT1
Orthologs

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	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 histone lysine N-methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
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	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in DNA methylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in chromatin organization	IDA Inferred from Direct Assay more info	PubMed
involved_in facultative heterochromatin formation	IEA Inferred from Electronic Annotation more info
involved_in histone H3-K9 methylation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	PubMed
involved_in peptidyl-lysine dimethylation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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 regulation of histone H3-K9 methylation	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
is_active_in chromatin	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	PubMed
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

EC 2.1.1.367

NP_001341188.1

EC 2.1.1.367

NP_001341192.1

EC 2.1.1.367

NP_001341540.1

EC 2.1.1.367

NP_001341541.1

EC 2.1.1.367

NP_079033.4

EC 2.1.1.367

XP_005266167.1

EC 2.1.1.367

XP_011517323.1

EC 2.1.1.367

XP_011517324.1

EC 2.1.1.367

XP_011517325.1

EC 2.1.1.367

XP_011517331.1

EC 2.1.1.367

XP_011517332.1

EC 2.1.1.367

XP_011517333.1

EC 2.1.1.367

XP_016870623.1

EC 2.1.1.367

XP_016870627.1

EC 2.1.1.367

XP_024303445.1

EC 2.1.1.367

XP_024303446.2

EC 2.1.1.367

XP_047279828.1

EC 2.1.1.367

XP_047279829.1

EC 2.1.1.367

XP_047279830.1

EC 2.1.1.367

XP_047279831.1

EC 2.1.1.367

XP_047279832.1

EC 2.1.1.367

XP_047279833.1

EC 2.1.1.367

XP_047279834.1

EC 2.1.1.367

XP_047279835.1

EC 2.1.1.367

XP_047279836.1

EC 2.1.1.367

XP_047279837.1

EC 2.1.1.367

XP_047279838.1

EC 2.1.1.367

XP_047279839.1

EC 2.1.1.367

XP_047279840.1

EC 2.1.1.367

XP_047279841.1

EC 2.1.1.367

XP_047279842.1

EC 2.1.1.367

XP_047279843.1

EC 2.1.1.367

XP_047279844.1

EC 2.1.1.367

XP_047279845.1

EC 2.1.1.367

XP_047279846.1

EC 2.1.1.367

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

NG_011776.1 RefSeqGene

Range

5014..222136

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]
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]
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)
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

Related

ENSP00000490056.1, ENST00000629335.2
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

Related

ENSP00000485900.1, ENST00000626066.2
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

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: Homo sapiens Annotation Release 110 details...

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

137619005..137836127

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047423872.1 → XP_047279828.1 histone-lysine N-methyltransferase EHMT1 isoform X3
XM_047423875.1 → XP_047279831.1 histone-lysine N-methyltransferase EHMT1 isoform X8
XM_047423878.1 → XP_047279834.1 histone-lysine N-methyltransferase EHMT1 isoform X10

UniProtKB/TrEMBL

A0A1B0GV09
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]
XM_047423883.1 → XP_047279839.1 histone-lysine N-methyltransferase EHMT1 isoform X15
XM_047423881.1 → XP_047279837.1 histone-lysine N-methyltransferase EHMT1 isoform X13
XM_017015138.2 → XP_016870627.1 histone-lysine N-methyltransferase EHMT1 isoform X11
XM_047423884.1 → XP_047279840.1 histone-lysine N-methyltransferase EHMT1 isoform X16
XM_047423882.1 → XP_047279838.1 histone-lysine N-methyltransferase EHMT1 isoform X14
XM_047423885.1 → XP_047279841.1 histone-lysine N-methyltransferase EHMT1 isoform X17
XM_024447678.2 → XP_024303446.2 histone-lysine N-methyltransferase EHMT1 isoform X19
XM_047423886.1 → XP_047279842.1 histone-lysine N-methyltransferase EHMT1 isoform X20
XM_047423888.1 → XP_047279844.1 histone-lysine N-methyltransferase EHMT1 isoform X22
XM_047423887.1 → XP_047279843.1 histone-lysine N-methyltransferase EHMT1 isoform X21

Related

ENSP00000489961.1, ENST00000636027.1
XM_047423889.1 → XP_047279845.1 histone-lysine N-methyltransferase EHMT1 isoform X23
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]
XM_017015134.2 → XP_016870623.1 histone-lysine N-methyltransferase EHMT1 isoform X5
XM_047423873.1 → XP_047279829.1 histone-lysine N-methyltransferase EHMT1 isoform X6
XM_047423879.1 → XP_047279835.1 histone-lysine N-methyltransferase EHMT1 isoform X11
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
XM_047423880.1 → XP_047279836.1 histone-lysine N-methyltransferase EHMT1 isoform X12
XM_047423874.1 → XP_047279830.1 histone-lysine N-methyltransferase EHMT1 isoform X7
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]
XM_047423876.1 → XP_047279832.1 histone-lysine N-methyltransferase EHMT1 isoform X9
XM_047423877.1 → XP_047279833.1 histone-lysine N-methyltransferase EHMT1 isoform X10

UniProtKB/TrEMBL

A0A1B0GV09

Related

ENSP00000490328.1, ENST00000637161.1
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)
XM_011519029.4 → XP_011517331.1 histone-lysine N-methyltransferase EHMT1 isoform X24

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

NC_060933.1 Alternate T2T-CHM13v2.0

Range

149870687..150093989

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.