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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
  • Gene Overview
    MyGene.info: EHMT1
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:24790769-24919643 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 16.73 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    737 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1924933
protein coding gene Chr2:24789928-24919643 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025412
protein coding gene Chr2:22623651-22761519 (-)
A/J MGP_AJ_G0025389
protein coding gene Chr2:21743366-21874491 (-)
AKR/J MGP_AKRJ_G0025359
protein coding gene Chr2:22494565-22627824 (-)
BALB/cJ MGP_BALBcJ_G0025385
protein coding gene Chr2:21859703-21995059 (-)
C3H/HeJ MGP_C3HHeJ_G0025146
protein coding gene Chr2:22410865-22548277 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025829
protein coding gene Chr2:23348000-23488514 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023240
protein coding gene Chr2:20677068-20811332 (-)
CAST/EiJ MGP_CASTEiJ_G0024609
protein coding gene Chr2:22288578-22435238 (-)
CBA/J MGP_CBAJ_G0025124
protein coding gene Chr2:24146359-24297516 (-)
DBA/2J MGP_DBA2J_G0025257
protein coding gene Chr2:21603746-21737084 (-)
FVB/NJ MGP_FVBNJ_G0025219
protein coding gene Chr2:21345420-21475339 (-)
LP/J MGP_LPJ_G0025343
protein coding gene Chr2:22565135-22707512 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025250
protein coding gene Chr2:24375417-24518876 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025888
protein coding gene Chr2:22422509-22559375 (-)
PWK/PhJ MGP_PWKPhJ_G0024357
protein coding gene Chr2:21399257-21535216 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024157
protein coding gene Chr2:22561447-22706228 (-)
WSB/EiJ MGP_WSBEiJ_G0024678
protein coding gene Chr2:22500100-22639456 (-)



Homology
more
  • Human Ortholog
    EHMT1, euchromatic histone lysine methyltransferase 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    EHMT1, euchromatic histone lysine methyltransferase 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    EHMT1-IT1, Eu-HMTase1, EUHMTASE1, FP13812, GLP, GLP1, KLEFS1, KMT1D
  • Links
    NCBI Gene ID: 79813
    neXtProt AC: NX_Q9H9B1
    UniProt: Q9H9B1

  • Chr Location
    9q34.3; chr9:137618988-137836127 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Ehmt1 mouse models; 1 with human EHMT1 associations

Human Disease Mouse Models
      
IDs
View 2 models
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
    78 phenotypes from 7 alleles in 12 genetic backgrounds
    4 phenotypes from multigenic genotypes
    25 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
  • GO References
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 77683 NCBI Gene Model | MGI Sequence Detail 128875 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 214
      cDNA 212
      Primer pair 2

      Microarray probesets 3
    References
    more
    • Summaries
      All 75
      Developmental Gene Expression 17
      Diseases 3
      Gene Ontology 12
      Phenotypes 25
    • 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:263725 Iacono G, et al., Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome. Nucleic Acids Res. 2018 Jun 1;46(10):4950-4965

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory