1. Gene
  2. EHMT1 - euchromatic histone lysine methyltransferase 1 Gene

EHMT1 - euchromatic histone lysine methyltransferase 1 Gene

Homo sapiens

Also known as GLP; GLP1; KMT1D; KLEFS1; FP13812; EHMT1-IT1; EUHMTASE1; Eu-HMTase1

Gene ID: 79813 | Gene type: protein coding

About EHMT1

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:137,619,005-137,836,127 (from NCBI)

This gene has 52 transcripts (splice variants), 314 orthologues, 19 paralogues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 9.7), spleen (RPKM 7.2) and 25 other tissues.

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]

EHMT1 Products(37)

mRNA Protein Name
XM_047423881.1 XP_047279837.1 histone-lysine N-methyltransferase EHMT1 isoform X13
XM_047423890.1 XP_047279846.1 histone-lysine N-methyltransferase EHMT1 isoform X26
XM_047423888.1 XP_047279844.1 histone-lysine N-methyltransferase EHMT1 isoform X22
XM_047423880.1 XP_047279836.1 histone-lysine N-methyltransferase EHMT1 isoform X12
XM_011519029.4 XP_011517331.1 histone-lysine N-methyltransferase EHMT1 isoform X24
XM_024447677.2 XP_024303445.1 histone-lysine N-methyltransferase EHMT1 isoform X18
NM_024757.5 NP_079033.4 histone-lysine N-methyltransferase EHMT1 isoform 1
NM_001039765.1
XM_047423883.1 XP_047279839.1 histone-lysine N-methyltransferase EHMT1 isoform X15
XM_047423876.1 XP_047279832.1 histone-lysine N-methyltransferase EHMT1 isoform X9
XM_024447678.2 XP_024303446.2 histone-lysine N-methyltransferase EHMT1 isoform X19
XM_047423873.1 XP_047279829.1 histone-lysine N-methyltransferase EHMT1 isoform X6
NM_001354612.2 NP_001341541.1 histone-lysine N-methyltransferase EHMT1 isoform 6
XM_017015134.2 XP_016870623.1 histone-lysine N-methyltransferase EHMT1 isoform X5
XM_047423889.1 XP_047279845.1 histone-lysine N-methyltransferase EHMT1 isoform X23
XM_011519031.2 XP_011517333.1 histone-lysine N-methyltransferase EHMT1 isoform X26
XM_047423879.1 XP_047279835.1 histone-lysine N-methyltransferase EHMT1 isoform X11
XM_047423887.1 XP_047279843.1 histone-lysine N-methyltransferase EHMT1 isoform X21
XM_017015138.2 XP_016870627.1 histone-lysine N-methyltransferase EHMT1 isoform X11
XM_047423875.1 XP_047279831.1 histone-lysine N-methyltransferase EHMT1 isoform X8
XM_011519023.4 XP_011517325.1 histone-lysine N-methyltransferase EHMT1 isoform X4
XM_011519030.4 XP_011517332.1 histone-lysine N-methyltransferase EHMT1 isoform X25
XM_047423882.1 XP_047279838.1 histone-lysine N-methyltransferase EHMT1 isoform X14
XM_047423878.1 XP_047279834.1 histone-lysine N-methyltransferase EHMT1 isoform X10
XM_047423872.1 XP_047279828.1 histone-lysine N-methyltransferase EHMT1 isoform X3
NM_001354263.2 NP_001341192.1 histone-lysine N-methyltransferase EHMT1 isoform 4
NM_001354259.2 NP_001341188.1 histone-lysine N-methyltransferase EHMT1 isoform 3
XM_005266110.2 XP_005266167.1 histone-lysine N-methyltransferase EHMT1 isoform X10
NM_001354611.2 NP_001341540.1 histone-lysine N-methyltransferase EHMT1 isoform 5
XM_047423885.1 XP_047279841.1 histone-lysine N-methyltransferase EHMT1 isoform X17
XM_047423884.1 XP_047279840.1 histone-lysine N-methyltransferase EHMT1 isoform X16
XM_011519021.4 XP_011517323.1 histone-lysine N-methyltransferase EHMT1 isoform X1
XM_011519022.4 XP_011517324.1 histone-lysine N-methyltransferase EHMT1 isoform X2
NM_001145527.2 NP_001138999.1 histone-lysine N-methyltransferase EHMT1 isoform 2
XM_047423886.1 XP_047279842.1 histone-lysine N-methyltransferase EHMT1 isoform X20
XM_047423874.1 XP_047279830.1 histone-lysine N-methyltransferase EHMT1 isoform X7
XM_047423877.1 XP_047279833.1 histone-lysine N-methyltransferase EHMT1 isoform X10
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables histone H3K9 methyltransferase activity IDA
IDA: Inferred from direct assay
12004135 GOA
enables methyltransferase activity IDA
IDA: Inferred from direct assay
12004135 GOA
enables p53 binding IPI
IPI: Inferred from physical interaction
20118233 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16702210 GOA
enables protein-lysine N-methyltransferase activity IDA
IDA: Inferred from direct assay
20118233 GOA
enables transcription corepressor binding IPI
IPI: Inferred from physical interaction
29628311 GOA
Biological Process GO Annotation Evidence Reference Source
involved in chromatin organization IDA
IDA: Inferred from direct assay
12004135 GOA
involved in peptidyl-lysine dimethylation IDA
IDA: Inferred from direct assay
20118233 GOA
Cellular Component GO Annotation Evidence Reference Source
located in nucleus IDA
IDA: Inferred from direct assay
19144645 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EHMT1 Protein Structure

Ank

Ank: Ankyrin repeat (774 - 800)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (810 - 903)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (910 - 985)

Pre-SET

Pre-SET: Pre-SET motif (1013 - 1118)

SET

SET: SET domain (1137 - 1243)

  • 0
  • 200
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  • 800
  • 1000
  • 1200
  • 1298 a.a.
Protein Preferred Names Protein Names

histone-lysine N-methyltransferase EHMT1

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

EHMT1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
EHMT1 Q9H9B1 MPHOSPH8 Homo sapiens Q99549
Anti Bait CoIP
20871592
Cross
EHMT1 Q9H9B1 Rela Mus musculus Q04207
Anti Tag CoIP
21131967
Cross
EHMT1 Q9H9B1 Rela Mus musculus Q04207
Anti Bait CoIP
21131967
Intra
EHMT1 Q9H9B1 RELA Homo sapiens Q04206
Anti Bait CoIP
21131967
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, Autosomal Dominant 1

MRD1

Autosomal Dominant Non-Syndromic Intellectual Disability 1

Mental Retardation, Autosomal Dominant 1

Autosomal Dominant Intellectual Developmental Disorder 1

Mowat-Wilson Syndrome

MOWS

Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease

Hirschsprung Disease-Mental Retardation Syndrome

Mowat-Wilson Syndrome Due To Monosomy 2q22

Hirschsprung Disease Mental Retardation Syndrome

Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease

Hirschsprung Disease - Intellectual Disability Syndrome

Hirschsprung Disease Intellectual Disability Syndrome

Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease

Mws

Hirschsprung Disease-Intellectual Disability Syndrome

Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion

Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22)

Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22

Mowat-Wilson Syndrome Due To 2q22 Microdeletion

Mowat-Wilson Syndrome Due To Del(2)Q(22)

Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation

Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation

Autosomal Dominant Intellectual Developmental Disorder 31

Autosomal Dominant Non-Syndromic Intellectual Disability 31

Autosomal Dominant Mental Retardation 31

Mrd31

Mental Retardation, Autosomal Dominant, Type 31

Kleefstra Syndrome Due To A Point Mutation
Kleefstra Syndrome 2

KLEFS2

Kleefstra Syndrome, Type 2

Chromosomal Deletion Syndrome
Sotos Syndrome

Cerebral Gigantism

SOTOS

Chromosome 5q35 Deletion Syndrome

Sotos Syndrome 1, Formerly

Sotos1, Formerly

Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development

Sotos Sequence

Sotos' Syndrome

Sotos1

Sotos Syndrome 1

Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

Kleefstra Syndrome

9q34.3 Microdeletion Syndrome

9q Subtelomeric Deletion Syndrome

9q- Syndrome

Chromosome 9q Deletion Syndrome

9qstds

Chromosome 9q34.3 Deletion Syndrome

9q34.3 Deletion Syndrome

Chromosome 9, Trisomy 9q

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Chromosome 16p13.3 Deletion Syndrome, Proximal

Rubinstein-Taybi Syndrome

Broad Thumb-Hallux Syndrome

Chromosome 16p13.3 Deletion Syndrome

Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion

Rubinstein Syndrome

Broad Thumbs-Halluces Syndrome

Rsts

Rubinstein-Taybi Deletion Syndrome

Rsts Deletion Syndrome

Proximal Chromosome 16p13.3 Deletion Syndrome

16p13.3 Deletion Syndrome

Broad Thumbs And Great Toes, Characteristic Facies, And Mental Retardation

Rts

Hypoplastic Left Heart Syndrome

Hlhs

Heart, Hypoplastic Left, Syndrome

Hypoplasia Of The Left Heart

Left Heart Hypoplasia Syndrome

Hlhs - [Hypoplastic Left Heart Syndrome]

Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome

Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome

Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle

Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia

Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome

Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome

Chromosome 2q37 Deletion Syndrome

Albright Hereditary Osteodystrophy-Like Syndrome

2q37 Microdeletion Syndrome

Brachydactyly-Intellectual Disability Syndrome

Deletion 2q37

2q37 Deletion Syndrome

Brachydactyly-Mental Retardation Syndrome

Bdmr

Albright Hereditary Osteodystrophy Type 3

Del(2)(Q37)

Monosomy 2q37qter

Albright'S Hereditary Osteodystrophy-Like Syndrome

Monosomy 2q37

Chromosome Deletion Syndrome 2q37

Kabuki Syndrome 1

Kabuki Syndrome

Niikawa-Kuroki Syndrome

Kabuki Make-Up Syndrome

Kms

KABUK1

Kabuki Make Up Syndrome

Nks

Kabuki Makeup Syndrome

Kabuki Syndrome, Type 1

Syndromic Intellectual Disability
Wolf-Hirschhorn Syndrome

Pitt-Rogers-Danks Syndrome

WHS

Chromosome 4p16.3 Deletion Syndrome

Wittwer Syndrome

4p- Syndrome

Pitt Syndrome

4p Deletion Syndrome

Distal Deletion 4p

Distal Monosomy 4p

Telomeric Deletion 4p

Prds

4p Syndrome

Chromosome 4p Syndrome

Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

Wolf Syndrome

Chromosome 4p Deletion Syndrome

Chromosome 4p Monosomy

Del Syndrome

Monosomy 4p

Partial Monosomy 4p

Chromosome 4 Short Arm Deletion

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Kleefstra Syndrome 1

9q Subtelomeric Deletion Syndrome

KLEFS1

Chromosome 9q34.3 Deletion Syndrome

9q- Syndrome

9q34 Deletion Syndrome

Kleefstra Syndrome Due To 9q34 Microdeletion

Kleefstra Syndrome

9q-Syndrome

9qstds

Kleefstra Syndrome Due To 9q Subtelomeric Deletion

Kleefstra Syndrome Due To Del(9)(Q34)

Kleefstra Syndrome Due To Monosomy 9q34

Chromosome 9q Subtelomeric Deletion Syndrome

Kleefstra Syndrome, Type 1

Christianson Syndrome

X-Linked Angelman-Like Syndrome

X-Linked Intellectual Disability, South African Type

X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome

Mental Retardation, Microcephaly, Epilepsy, And Ataxia Syndrome

Mental Retardation, X-Linked Syndromic, Christianson Type

Mrxsch

Angelman-Like Syndrome X-Linked

Intellectual Disability Microcephaly Epilepsy And Ataxia Syndrome

Intellectual Disability X-Linked Syndromic Christianson Type

Mrxs Christianson

X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy

Angelman-Like Syndrome, X-Linked

Intellectual Deficit, X-Linked, South African Type

Mental Retardation X-Linked, South African Type

Mental Retardation, X-Linked, Syndromic, Christianson Type

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Pitt-Hopkins Syndrome

PTHS

Encephalopathy, Severe Epileptic, With Autonomic Dysfunction

Mental Retardation, Syndromal, With Intermittent Hyperventilation

Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea

Pitt Hopkins Syndrome

Phs

Encephalopathy Severe Epileptic With Autonomic Dysfunction

Weaver Syndrome

Wss

Weaver-Smith Syndrome

WVS

Weaver-Like Syndrome

Weaver-Williams Syndrome

Camptodactyly-Overgrowth-Unusual Facies Syndrome

Camptodactyly - Overgrowth - Unusual Facies

Ezh2 Related Overgrowth

Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly

Weaver Smith Syndrome

Weaver Like Syndrome

Weaver Williams Syndrome

Camptodactyly-Overgrowth-Unusual Facies

Weaver Syndrome 1

Weaver Syndrome 2

Wvs1

Wvs2

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Ogden Syndrome

OGDNS

N-Terminal Acetyltransferase Deficiency

NATD

N-Alpha-Acetyltransferase

X-Linked Malformation And Infantile Lethality Syndrome

Premature Aging Appearance-Developmental Delay-Cardiac Arrhythmia Syndrome

Polymicrogyria

Pmg

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris EHMT1 VGNC VGNC:51953
Mus musculus EHMT1 MGD MGI:1924933
Bos taurus EHMT1 VGNC VGNC:59215
Macaca mulatta EHMT1 VGNC VGNC:103258
Felis catus EHMT1 VGNC VGNC:102922
Rattus norvegicus EHMT1 RGD RGD:1307588
Others EHMT1 NCBI