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Asxl1 Gene Detail
Summary
  • Symbol
    Asxl1
  • Name
    ASXL transcriptional regulator 1
  • Synonyms
    mKIAA0978
  • Feature Type
    protein coding gene
  • IDs
    MGI:2684063
    NCBI Gene: 228790
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:153187750-153245927 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 75.41 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1051 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2684063
 protein coding gene Chr2:153187749-153245927 (+)
129S1/SvImJ MGP_129S1SvImJ_G0026692
 protein coding gene Chr2:157979439-158048391 (+)
A/J MGP_AJ_G0026658
 protein coding gene Chr2:151657262-151718448 (+)
AKR/J MGP_AKRJ_G0026629
 protein coding gene Chr2:156090253-156152861 (+)
BALB/cJ MGP_BALBcJ_G0026668
 protein coding gene Chr2:151962607-152023047 (+)
C3H/HeJ MGP_C3HHeJ_G0026410
 protein coding gene Chr2:156470201-156535519 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027117
 protein coding gene Chr2:162567835-162632358 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024488
 protein coding gene Chr2:145227123-145289228 (+)
CAST/EiJ MGP_CASTEiJ_G0025872
 protein coding gene Chr2:156720280-156783104 (+)
CBA/J MGP_CBAJ_G0026389
 protein coding gene Chr2:168569480-168634130 (+)
DBA/2J MGP_DBA2J_G0026525
 protein coding gene Chr2:150866732-150927029 (+)
FVB/NJ MGP_FVBNJ_G0026491
 protein coding gene Chr2:149332028-149392558 (+)
LP/J MGP_LPJ_G0026629
 protein coding gene Chr2:158131453-158195777 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026512
 protein coding gene Chr2:172583107-172646675 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027172
 protein coding gene Chr2:155994014-156063776 (+)
PWK/PhJ MGP_PWKPhJ_G0025606
 protein coding gene Chr2:150400903-150463094 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025409
 protein coding gene Chr2:154815959-154883126 (+)
WSB/EiJ MGP_WSBEiJ_G0025942
 protein coding gene Chr2:156881464-156941212 (+)



Homology
more
  • Human Ortholog
    ASXL1, ASXL transcriptional regulator 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ASXL1, ASXL transcriptional regulator 1
  • Synonyms
    BOPS, MDS
  • Links
    NCBI Gene ID: 171023
    neXtProt AC: NX_Q8IXJ9
    UniProt: Q8IXJ9

  • Chr Location
    20q11.21; chr20:32358330-32439319 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with Asxl1 mouse models; 5 with human ASXL1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 5 models
      
IDs
 View 1 model
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    102 phenotypes from 6 alleles in 8 genetic backgrounds
    3 phenotypes from multigenic genotypes
    40 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
less
  • All GO Annotations
    40
  • GO References
    15
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
    841
  • Tissues
    126
  • cDNA Data
    16
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 228790 NCBI Gene Model | MGI Sequence Detail 58178 C57BL/6J ±  kb
    transcript NM_001039939 RefSeq | MGI Sequence Detail 7002 C57BL/6  
    polypeptide P59598 UniProt | EBI | MGI Sequence Detail 1514 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 20
      cDNA 16
      Primer pair 4

      Microarray probesets 7
    References
    more
    • Summaries
      All 90
      Developmental Gene Expression 9
      Diseases 3
      Gene Ontology 15
      Phenotypes 40
    • 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:350444 Martinez-Mayer J, et al., Knockout mice with pituitary malformations help identify human cases of hypopituitarism. Genome Med. 2024 May 31;16(1):75
    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)
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    Funding Information
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    11/19/2024
    MGI 6.24     		The Jackson Laboratory