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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
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
Homology
more
  • Human Ortholog
    ASXL1, additional sex combs like 1, transcriptional regulator
  • Vertebrate Orthologs
    8
  • Human Ortholog
    ASXL1, additional sex combs like 1, transcriptional regulator
    Orthology source: HomoloGene
  • Synonyms
    BOPS, MDS
  • Links
    NCBI Gene ID: 171023
    neXtProt AC: NX_Q8IXJ9

  • Chr Location
    20q11; chr20:32358344-32439319 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Asxl1 mouse models; 2 with human ASXL1 associations

Human Disease Mouse Models
       Myelodysplastic Syndrome; MDS   OMIM: 614286 View 4 models
       Bohring-Opitz Syndrome; BOPS   OMIM: 605039
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
    84 phenotypes from 5 alleles in 6 genetic backgrounds
    3 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.
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
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 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
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  • SNPs within 2kb
    321 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000031577 polycomb group protein ASXL1
  • InterPro Domains
    IPR028020 ASX homology domain
    IPR024815 ASX-like protein 1
    IPR007759 HB1/Asxl, restriction endonuclease HTH domain
    IPR024811 Polycomb protein ASX/ASX-like
    IPR026905 Protein ASX-like, PHD domain
Molecular
Reagents
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  • All nucleic 18
    cDNA 15
    Primer pair 3

    Microarray probesets 7
References
more
  • Summaries
    All 51
    Developmental Gene Expression 5
    Diseases 2
    Gene Ontology 9
    Phenotypes 19
  • 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:229413 Moon S, et al., Role of Asxl1 in kidney podocyte development via its interaction with Wtip. Biochem Biophys Res Commun. 2015 Oct 23;466(3):560-6

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
05/17/2016
MGI 6.03
The Jackson Laboratory