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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
    gene 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
    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 Chr2:24679940-24809658 (-)
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
    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
    neXtProt AC: NX_Q9H9B1
    UniProt: Q9H9B1

  • Chr Location
    9q34.3; chr9:137618992-137870016 (+)  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
    90 phenotypes from 7 alleles in 13 genetic backgrounds
    4 phenotypes from multigenic genotypes
    35 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
    42
  • GO References
    16
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
non-membrane-bounded 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
    823
  • Tissues
    106
  • cDNA Data
    213
  • Literature Summary
    22
  • 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 216
      cDNA 213
      Primer pair 3

      Microarray probesets 3
    References
    more
    • Summaries
      All 97
      Developmental Gene Expression 22
      Diseases 3
      Gene Ontology 16
      Phenotypes 35
    • 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:342743 Meziane H, et al., Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models. Biomedicines. 2022 Dec 6;10(12)
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory