About   Help   FAQ
Ash1l Gene Detail
Summary
  • Symbol
    Ash1l
  • Name
    ASH1 like histone lysine methyltransferase
  • Synonyms
    8030453L17Rik, chromatin remodeling factor, E430018P19Rik, KMT2H
  • Feature Type
    protein coding gene
  • IDs
    MGI:2183158
    NCBI Gene: 192195
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:88857929-88986682 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 39.01 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2169 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2183158
 protein coding gene Chr3:88857721-88986682 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027412
 protein coding gene Chr3:89124040-89262850 (+)
A/J MGP_AJ_G0027376
 protein coding gene Chr3:86187881-86317665 (+)
AKR/J MGP_AKRJ_G0027340
 protein coding gene Chr3:88269214-88404619 (+)
BALB/cJ MGP_BALBcJ_G0027385
 protein coding gene Chr3:86156344-86287971 (+)
C3H/HeJ MGP_C3HHeJ_G0027127
 protein coding gene Chr3:88465513-88605208 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027831
 protein coding gene Chr3:92479023-92630638 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025183
 protein coding gene Chr3:81675455-81805726 (+)
CAST/EiJ MGP_CASTEiJ_G0026573
 protein coding gene Chr3:88816620-88949970 (+)
CBA/J MGP_CBAJ_G0027101
 protein coding gene Chr3:95677637-95819829 (+)
DBA/2J MGP_DBA2J_G0027239
 protein coding gene Chr3:85566656-85703315 (+)
FVB/NJ MGP_FVBNJ_G0027207
 protein coding gene Chr3:83903139-84031613 (+)
LP/J MGP_LPJ_G0027348
 protein coding gene Chr3:90210801-90347339 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027227
 protein coding gene Chr3:101895240-102041811 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027890
 protein coding gene Chr3:88018122-88157394 (+)
PWK/PhJ MGP_PWKPhJ_G0026307
 protein coding gene Chr3:85437617-85565575 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026126
 protein coding gene Chr3:87180833-87323411 (+)
WSB/EiJ MGP_WSBEiJ_G0026655
 protein coding gene Chr3:88405251-88544879 (+)



Homology
more
  • Human Ortholog
    ASH1L, ASH1 like histone lysine methyltransferase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ASH1L, ASH1 like histone lysine methyltransferase
  • Synonyms
    ASH1, ASH1L1, KMT2H, MRD52
  • Links
    NCBI Gene ID: 55870
    neXtProt AC: NX_Q9NR48
    UniProt: Q9NR48

  • Chr Location
    1q22; chr1:155335268-155563202 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human ASH1L associations

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

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    50 phenotypes from 3 alleles in 3 genetic backgrounds
    2 phenotypes from multigenic genotypes
    27 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.
Homozygotes for a transposon-induced allele are more susceptible to endotoxin shock, sepsis, and autoimmune disease. Homozygotes for a hypomorphic allele show reduced growth and postnatal lethality; surviving adults lack Meibomian glands and show vertebral, reproductive organ, and fertility defects.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    53
  • GO References
    12
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
    851
  • Tissues
    126
  • cDNA Data
    121
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028053 Ensembl Gene Model | MGI Sequence Detail 128754 C57BL/6J ±  kb
    transcript ENSMUST00000186583 Ensembl | MGI Sequence Detail 11644 Not Applicable  
    polypeptide ENSMUSP00000140251 Ensembl | MGI Sequence Detail 2958 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 123
      cDNA 121
      Primer pair 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2442216, MGI:2444414
    References
    more
    • Summaries
      All 65
      Developmental Gene Expression 9
      Diseases 1
      Gene Ontology 12
      Phenotypes 27
    • Earliest
      J:70677 Cook SA, et al., Mouse paracentric inversion In(3)55Rk mutates the urate oxidase gene. Cytogenet Cell Genet. 2001;93(1-2):77-82
    • Latest
      J:349710 Du WJ, et al., Ash1L ameliorates psoriasis via limiting neuronal activity-dependent release of miR-let-7b. Br J Pharmacol. 2024 Apr;181(7):1107-1127
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory