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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

EHMT1 Gene

protein-coding GIFtS: 63
GCID: GC09P140513

Euchromatic Histone-Lysine N-Methyltransferase 1

(Previous name: euchromatic histone methyltransferase 1)

14 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Euchromatic Histone-Lysine N-Methyltransferase 1¹ ² ³		Euchromatic Histone Methyltransferase 1¹
EUHMTASE1² ³ ⁵		FP13812²
Histone H3-K9 Methyltransferase 5² ³		bA188C12.1²
Lysine N-Methyltransferase 1D² ³		G9a Like Protein²
Eu-HMTase1² ³		Histone-Lysine N-Methyltransferase EHMT1²
GLP² ³		Histone-Lysine N-Methyltransferase, H3 Lysine-9 Specific 5²
GLP1² ³		EC 2.1.1.-³
KMT1D² ³		EC 2.1.1.43³
G9a-Like Protein 1² ³		KIAA1876³
H3-K9-HMTase 5² ³		DEL9q34⁵

External Ids:	HGNC: 24650¹	Entrez Gene: 79813²	Ensembl: ENSG00000181090⁷	OMIM: 607001⁵	UniProtKB: Q9H9B1³

Export aliases for EHMT1 gene to outside databases

Previous GC identifers: GC09P135825 GC09P137881 GC09P139633 GC09P139725 GC09P110067

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for EHMT1 Gene:

The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses

transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it 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). Two transcript variants encoding different isoforms have been found for this gene. (provided

by RefSeq, Mar 2009)

GeneCards Summary for EHMT1 Gene:

EHMT1 (euchromatic histone-lysine N-methyltransferase 1) is a protein-coding gene. Diseases associated with EHMT1 include kleefstra syndrome, and kleefstra syndrome due to 9q34 microdeletion. GO annotations related to this gene include methyltransferase activity and histone-lysine N-methyltransferase activity. An important paralog of this gene is NSD1.

UniProtKB/Swiss-Prot: EHMT1_HUMAN, Q9H9B1

Function: Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and

H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by

recruiting HP1 proteins to methylated histones. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also required

for DNA methylation, the histone methyltransferase activity is not required for DNA methylation, suggesting that these

2 activities function independently. Probably targeted to histone H3 by different DNA-binding proteins like E2F6, MGA,

MAX and/or DP1. During G0 phase, it probably contributes to silencing of MYC- and E2F-responsive genes, suggesting a

role in G0/G1 transition in cell cycle. In addition to the histone methyltransferase activity, also methylates

non-histone proteins: mediates dimethylation of 'Lys-373' of p53/TP53

summary for EHMT1 Gene:

Histone methyltransferases (HMTs) are a group of enyzmes that catalyze the transfer of methyl groups from

S-adenosylmethionine (SAM) to histones and are closely related in biological activity to the DNA

methyltransferases. Histone methylation occurs predominantly on the side chains of lysine and arginine

residues in histones H3 and H4, and multiple methyl groups may be added to each residue. Histone

methyltransferases can be subdivided according to their target residue: those which methylate lysine

residues on histone proteins are known as protein lysine methyltransferases (PKMTs) whereas those acting on

arginine residues are known as protein arginine methyltransferases (PRMTs).

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NT_024000.16 NC_018920.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the EHMT1 gene promoter:
p53 ATF-2 Pax-2 Pax-2a HNF-4alpha1 CRE-BP1 PPAR-gamma1 Pax-2b c-Myb PPAR-gamma2
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for EHMT1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EHMT1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.3 Ensembl cytogenetic band: 9q34.3 HGNC cytogenetic band: 9q34.3

EHMT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EHMT1 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P140513: view genomic region (about GC identifiers)

Start:	140,513,444 bp from pter	End:	140,764,468 bp from pter
Size:	251,025 bases	Orientation:	plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: EHMT1_HUMAN, Q9H9B1 (See protein sequence)

Recommended Name: Histone-lysine N-methyltransferase EHMT1

Size: 1298 amino acids; 141466 Da

Subunit: Heterodimer; heterodimerizes with EHMT2/G9a. Interacts with WIZ and EHMT2. Part of the E2F6.com-1 complex in

G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EHMT1, RING1, RNF2, MBLR, L3MBTL2 and YAF2. Interacts (via ANK

repeats) with RELA (when monomethylated at 'Lys-310'). Interacts with MPHOSPH8

Subcellular location: Nucleus. Chromosome. Note=Associates with euchromatic regions

Sequence caution: Sequence=CAD28534.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=CAH71077.1;

Type=Erroneous gene model prediction; Sequence=CAI17354.1; Type=Erroneous gene model prediction;

6/12 PDB 3D structures from and Proteopedia for EHMT1 (see all 12):

2IGQ (3D)

2RFI (3D)

3B7B (3D)

3B95 (3D)

3FPD (3D)

3HNA (3D)

Secondary accessions: B1AQ58 B1AQ59 Q86X08 Q8TCN7 Q96F53 Q96JF1 Q96KH4

Alternative splicing: 4 isoforms: Q9H9B1-1 Q9H9B1-2 Q9H9B1-3 Q9H9B1-4

Explore the universe of human proteins at neXtProt for EHMT1: NX_Q9H9B1

Explore proteomics data for EHMT1 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q9H9B1

EHMT1 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (2 alternative transcripts):

NP_001138999.1 NP_079033.4

ENSEMBL proteins:

ENSP00000417328 ENSP00000417980 ENSP00000436107 ENSP00000334476

Human Recombinant Protein Products for EHMT1:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate for EHMT1 OriGene Custom MassSpec OriGene Custom Protein Services for EHMT1
	GenScript Custom Purified and Recombinant Proteins Services for EHMT1
	Novus Biologicals EHMT1 Proteins Novus Biologicals EHMT1 Lysate
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for EHMT1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	ISS	--
GO:0005694	chromosome	IEA	--

EHMT1 for ontologies About GeneDecksing

EHMT1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of EHMT1
	R&D Systems Antibodies for EHMT1 (GLP/EHMT1)
	OriGene Antibodies for EHMT1 OriGene Custom Antibody Services for EHMT1
	GenScript Custom Superior Antibodies Services for EHMT1
	Novus Biologicals EHMT1 Antibodies
	Abcam antibodies for EHMT1
	Cloud-Clone Corp. Antibodies for EHMT1
	ThermoFisher Antibodies for EHMT1
	LSBio Antibodies in human, mouse, rat for EHMT1

Assay Products for EHMT1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for EHMT1
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for EHMT1
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for EHMT1 Cloud-Clone Corp. CLIAs for EHMT1

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

KMT: Chromatin-modifying enzymes / K-methyltransferases

ANKRD: Ankyrin repeat domain containing

5 InterPro protein domains:

IPR001214 SET_dom

IPR020683 Ankyrin_rpt-contain_dom

IPR003606 Pre-SET_Zn-bd_sub

IPR007728 Pre-SET_dom

IPR002110 Ankyrin_rpt

Graphical View of Domain Structure for InterPro Entry Q9H9B1

ProtoNet protein and cluster: Q9H9B1

3 Blocks protein domains:

IPB001214 Nuclear protein SET

IPB002110 Ankyrin repeat signature

IPB003606 Nuclear protein Zn2+-binding

UniProtKB/Swiss-Prot: EHMT1_HUMAN, Q9H9B1

Domain: The ANK repeats recognize and bind RELA subunit of NF-kappa-B, when RELA is monomethylated at 'Lys-310' (By

similarity). They also specifically recognize and bind H3K9me1 and H3K9me2

Domain: The SET domain mediates interaction with WIZ

Similarity: Belongs to the class V-like SAM-binding methyltransferase superfamily

Similarity: Contains 8 ANK repeats

Similarity: Contains 1 pre-SET domain

Similarity: Contains 1 SET domain

EHMT1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: EHMT1_HUMAN, Q9H9B1