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Ehmt1 Gene Detail
Summary
  • Symbol
    Ehmt1
  • Name
    euchromatic histone methyltransferase 1
  • Synonyms
    9230102N17Rik, KMT1D, mKIAA1876
  • Feature Type
    protein coding gene
  • IDs
    MGI:1924933
    NCBI Gene: 77683
  • Alliance
    genome feature page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:24680781-24809658 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 16.73 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    3425 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1924933
 protein coding gene Chr2:24679940-24809658 (-)
129S1/SvImJ ENSMUSG00200051026
 protein coding gene Chr2:21664294-21793754 (-)
A/J ENSMUSG00195042487
 protein coding gene Chr2:21755694-21884732 (-)
AKR/J ENSMUSG00220053222
 protein coding gene Chr2:21873487-22002520 (-)
BALB/cJ ENSMUSG00180051348
 protein coding gene Chr2:21765670-21895382 (-)
C3H/HeJ ENSMUSG00175046663
 protein coding gene Chr2:21730118-21859590 (-)
C57BL/6NJ ENSMUSG00215046914
 protein coding gene Chr2:21788554-21918252 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023240
 protein coding gene Chr2:20677068-20811332 (-)
CAST/EiJ ENSTCUG00005053226
 protein coding gene Chr2:21501525-21636061 (-)
CBA/J ENSMUSG00210015849
 protein coding gene Chr2:21769097-21898565 (-)
DBA/2J ENSMUSG00185052325
 protein coding gene Chr2:21670002-21799030 (-)
FVB/NJ ENSMUSG00205047843
 protein coding gene Chr2:21522548-21651985 (-)
JF1/MsJ ENSUMUG00000054774
 protein coding gene Chr2:21575887-21710685 (-)
LP/J ENSMUSG00230037304
 protein coding gene Chr2:23600303-23729761 (-)
NOD/ShiLtJ ENSMUSG00190029026
 protein coding gene Chr2:21760393-21890072 (-)
NZO/HlLtJ ENSMUSG00225009912
 protein coding gene Chr2:31350968-31480434 (-)
PWK/PhJ ENSLUMG00010039583
 protein coding gene Chr2:21672867-21806638 (-)
SPRET/EiJ ENSMSPG00010029571
 protein coding gene Chr2:22361275-22494985 (-)
WSB/EiJ ENSIUOG00005050226
 protein coding gene Chr2:21625481-21755087 (-)



Homology
more
  • Human Ortholog
    EHMT1, euchromatic histone lysine methyltransferase 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EHMT1, euchromatic histone lysine methyltransferase 1
  • Synonyms
    EHMT1-IT1, Eu-HMTase1, EUHMTASE1, FP13812, GLP, GLP1, KLEFS1, KMT1D
  • Links
    NCBI Gene ID: 79813
    UniProt: Q9H9B1

  • Chr Location
    9q34.3; chr9:137618977-137870016 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ehmt1 mouse models; 2 with human EHMT1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    82 phenotypes from 7 alleles in 13 genetic backgrounds
    4 phenotypes from multigenic genotypes
    40 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Nullizygous embryos die circa E9.5 showing delayed growth and incomplete somite formation and neural groove closure. Heterozygotes show behavioral deficits and synaptic dysfunction. Homozygotes with a H3K9me1-binding mutant form show delayed prenatal growth and bone ossification and postnatal death.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    64
  • GO References
    19
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    719
  • Tissues
    107
  • cDNA Data
    213
  • Literature Summary
    23
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 77683 NCBI Gene Model | MGI Sequence Detail 128878 C57BL/6J ±  kb
    transcript NM_001012518 RefSeq | MGI Sequence Detail 5107 C57BL/6  
    polypeptide Q5DW34 UniProt | EBI | MGI Sequence Detail 1296 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 217
      cDNA 213
      Primer pair 4
      Antibodies 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 122
      Developmental Gene Expression 23
      Diseases 3
      Gene Ontology 19
      Phenotypes 40
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:377204 Okashita N, et al., Maternal iron deficiency causes male-to-female sex reversal in mouse embryos. Nature. 2025 Jul;643(8070):262-270
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory