EHMT1 - euchromatic histone lysine methyltransferase 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79813

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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
  • 400
  • 600
  • 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 References
Intra
EHMT1 Q9H9B1 MPHOSPH8 Homo sapiens Q99549 20871592
Cross
EHMT1 Q9H9B1 Rela Mus musculus Q04207 21131967
Cross
EHMT1 Q9H9B1 Rela Mus musculus Q04207 21131967
Intra
EHMT1 Q9H9B1 RELA Homo sapiens Q04206 21131967
Cross: Cross-species interaction Intra: Intraspecies interaction

EHMT1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P85132 EHMT1 Antibody (YA4824) WB, ELISA Human

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