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Asxl1 Gene Detail
Summary
  • Symbol
    Asxl1
  • Name
    additional sex combs like 1
  • Synonyms
    mKIAA0978
  • Feature Type
    protein coding gene
  • IDs
    MGI:2684063
    NCBI Gene: 228790
  • Gene Overview
    MyGene.info: ASXL1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr2:153345845-153404007 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      58163 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 75.41 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    ASXL1, ASXL transcriptional regulator 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    ASXL1, ASXL transcriptional regulator 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BOPS, MDS
  • Links
    NCBI Gene ID: 171023
    neXtProt AC: NX_Q8IXJ9
    UniProt: Q8IXJ9

  • Chr Location
    20q11.21; chr20:32358062-32439319 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Asxl1 mouse models; 1 with human ASXL1 associations

Human Disease Mouse Models
      
IDs
View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    91 phenotypes from 5 alleles in 7 genetic backgrounds
    3 phenotypes from multigenic genotypes
    22 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.
Disruption of this gene causes alterations in lymphocyte development in adult mice. Mice homozygous for a different knock-out allele exhibit complete lethality. Mice heterozygous for this allele exhibit eye opacity and abnormal vertebrae morphology.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000019852 VEGA Gene Model | MGI Sequence Detail 58163 C57BL/6J ±  kb
    transcript OTTMUST00000040633 VEGA | MGI Sequence Detail 6968 Not Applicable  
    polypeptide OTTMUSP00000018159 VEGA | MGI Sequence Detail 1514 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      321 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 18
      cDNA 15
      Primer pair 3

      Microarray probesets 7
    References
    more
    • Summaries
      All 58
      Developmental Gene Expression 6
      Diseases 2
      Gene Ontology 9
      Phenotypes 22
    • Earliest
      J:83413 Okazaki N, et al., Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. DNA Res. 2003 Feb 28;10(1):35-48
    • Latest
      J:258185 Li Z, et al., ASXL1 interacts with the cohesin complex to maintain chromatid separation and gene expression for normal hematopoiesis. Sci Adv. 2017 Jan;3(1):e1601602

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory