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Dot1l Gene Detail
Summary
  • Symbol
    Dot1l
  • Name
    DOT1 like histone lysine methyltransferase
  • Synonyms
    KMT4, mDot1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2143886
    NCBI Gene: 208266
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:80591040-80631295 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 39.72 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    706 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 Chr10:80590935-80631295 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DOT1L, DOT1 like histone lysine methyltransferase
  • Synonyms
    DOT1, KMT4
  • Links
    NCBI Gene ID: 84444
    neXtProt AC: NX_Q8TEK3
    UniProt: Q8TEK3

  • Chr Location
    19p13.3; chr19:2163933-2232578 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Dot1l mouse models; 1 with human DOT1L associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
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
less
  • Phenotype Summary
    49 phenotypes from 9 alleles in 8 genetic backgrounds
    71 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.
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
    22
  • GO References
    5
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
    820
  • Tissues
    112
  • cDNA Data
    11
  • Literature Summary
    14
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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
      2.1.1.360
    • 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 superfamily
    • GlyGen
      Q6XZL8 2 sites, 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 13
      cDNA 11
      Primer pair 2

      Microarray probesets 2
    References
    more
    • Summaries
      All 111
      Developmental Gene Expression 14
      Diseases 1
      Gene Ontology 5
      Phenotypes 71
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:350950 Sudholz H, et al., DOT1L maintains NK cell phenotype and function for optimal tumor control. Cell Rep. 2024 Jun 25;43(6):114333
    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
    11/19/2024
    MGI 6.24     		The Jackson Laboratory