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Dot1l Gene Detail
Summary
  • Symbol
    Dot1l
  • Name
    DOT1-like, histone H3 methyltransferase (S. cerevisiae)
  • Synonyms
    KMT4, mDot1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2143886
    NCBI Gene: 208266
  • Gene Overview
    MyGene.info: DOT1L
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:80755206-80795461 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 39.72 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    85 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2143886
protein coding gene Chr10:80755130-80795461 (.)
129S1/SvImJ MGP_129S1SvImJ_G0017517
protein coding gene Chr10:81404578-81448459 (+)
A/J MGP_AJ_G0017495
protein coding gene Chr10:78546753-78587045 (+)
AKR/J MGP_AKRJ_G0017456
protein coding gene Chr10:80700823-80741157 (+)
BALB/cJ MGP_BALBcJ_G0017457
protein coding gene Chr10:78760126-78800934 (+)
C3H/HeJ MGP_C3HHeJ_G0017280
protein coding gene Chr10:80785757-80826621 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017911
protein coding gene Chr10:84210384-84252109 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015600
protein coding gene Chr10:74755579-74796233 (+)
CAST/EiJ MGP_CASTEiJ_G0016847
protein coding gene Chr10:81010742-81054619 (+)
CBA/J MGP_CBAJ_G0017252
protein coding gene Chr10:87479633-87519868 (+)
DBA/2J MGP_DBA2J_G0017358
protein coding gene Chr10:77743966-77785780 (+)
FVB/NJ MGP_FVBNJ_G0017352
protein coding gene Chr10:76974736-77017333 (+)
LP/J MGP_LPJ_G0017429
protein coding gene Chr10:81870301-81913164 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017378
protein coding gene Chr10:89396604-89438362 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017952
protein coding gene Chr10:80689240-80734879 (+)
PWK/PhJ MGP_PWKPhJ_G0016628
protein coding gene Chr10:77633369-77674531 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016418
protein coding gene Chr10:79640583-79680587 (+)
WSB/EiJ MGP_WSBEiJ_G0016907
protein coding gene Chr10:80728107-80769141 (+)



Homology
more
  • Human Ortholog
    DOT1L, DOT1 like histone lysine methyltransferase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    DOT1L, DOT1 like histone lysine methyltransferase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DOT1, KMT4
  • Links
    NCBI Gene ID: 84444
    neXtProt AC: NX_Q8TEK3
    UniProt: Q8TEK3

  • Chr Location
    19p13.3; chr19:2163963-2232578 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Dot1l mouse models

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    45 phenotypes from 8 alleles in 7 genetic backgrounds
    37 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.
Mice homozygous for a gene trap allele show late embryonic lethality. Mice homozygous for a null allele die by E10.5 displaying a growth arrest, abnormal yolk sac angiogenesis and heart dilation while mutant ES cells show elevated apoptosis, G2 cell cycle arrest, telomere elongation and aneuploidy.
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 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 ENSMUSG00000061589 Ensembl Gene Model | MGI Sequence Detail 40256 C57BL/6J ±  kb
    transcript ENSMUST00000105336 Ensembl | MGI Sequence Detail 6808 Not Applicable  
    polypeptide ENSMUSP00000100973 Ensembl | MGI Sequence Detail 1540 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      11 Sequences
    • EC
    • InterPro Domains
      IPR030445 Histone H3-K79 methyltransferase
      IPR021169 Histone H3-K79 methyltransferase, metazoa
      IPR025789 Histone-lysine N-methyltransferase DOT1 domain
      IPR029063 S-adenosyl-L-methionine-dependent methyltransferase
    Molecular
    Reagents
    less
    • All nucleic 12
      cDNA 11
      Primer pair 1

      Microarray probesets 2
    References
    more
    • Summaries
      All 68
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 5
      Phenotypes 37
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:260127 Zhu B, et al., The protective role of DOT1L in UV-induced melanomagenesis. Nat Commun. 2018 Jan 17;9(1):259

    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
    11/13/2018
    MGI 6.13
    The Jackson Laboratory