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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
Location & Maps
more
  • Sequence Map
    Chr2:24789928-24919614 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      129687 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    EHMT1, euchromatic histone-lysine N-methyltransferase 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    EHMT1, euchromatic histone-lysine N-methyltransferase 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    bA188C12.1, Eu-HMTase1, EUHMTASE1, FP13812, GLP, GLP1, KMT1D
  • Links
    NCBI Gene ID: 79813
    neXtProt AC: NX_Q9H9B1

  • Chr Location
    9q34.3; chr9:137618992-137836127 (+)  GRCh38.p2

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

Human Disease Mouse Models
       Kleefstra Syndrome   OMIM: 610253 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
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  • Phenotype Summary
    36 phenotypes from 4 alleles in 7 genetic backgrounds
    4 phenotypes from multigenic genotypes
    19 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
Heterozygous null mice display decreased exploration in a new environment. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E10.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012294 VEGA Gene Model | MGI Sequence Detail 129687 C57BL/6J ±  kb
transcript OTTMUST00000029249 VEGA | MGI Sequence Detail 5953 Not Applicable  
polypeptide OTTMUSP00000013205 VEGA | MGI Sequence Detail 1296 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    758 from dbSNP Build 137
Protein
Information
less
Molecular
Reagents
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  • All nucleic 211
    cDNA 210
    Primer pair 1

    Microarray probesets 3
References
more
  • Summaries
    All 61
    Developmental Gene Expression 11
    Diseases 3
    Gene Ontology 11
    Phenotypes 19
  • 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:213022 Mozzetta C, et al., The histone H3 lysine 9 methyltransferases G9a and GLP regulate polycomb repressive complex 2-mediated gene silencing. Mol Cell. 2014 Jan 23;53(2):277-89

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory