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Asxl1 ASXL transcriptional regulator 1 [ Mus musculus (house mouse) ]

Gene ID: 228790, updated on 21-Apr-2024

Summary

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Official Symbol
Asxl1provided by MGI
Official Full Name
ASXL transcriptional regulator 1provided by MGI
Primary source
MGI:MGI:2684063
See related
Ensembl:ENSMUSG00000042548 AllianceGenome:MGI:2684063
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Enables peroxisome proliferator activated receptor binding activity; retinoic acid receptor binding activity; and transcription coactivator activity. Involved in several processes, including kidney development; negative regulation of fat cell differentiation; and regulation of signal transduction. Acts upstream of or within animal organ development; cell morphogenesis; and homeostasis of number of cells. Located in nucleus. Is expressed in several structures, including limb bud; lung; nervous system; paraxial mesenchyme; and salivary gland. Used to study acute myeloid leukemia; myelodysplastic syndrome; and myeloproliferative neoplasm. Human ortholog(s) of this gene implicated in SM-AHNMD; acute myeloid leukemia; chronic myelomonocytic leukemia; myelodysplastic syndrome; and myelofibrosis. Orthologous to human ASXL1 (ASXL transcriptional regulator 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in CNS E11.5 (RPKM 11.0), testis adult (RPKM 10.6) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
2 H1; 2 75.41 cM
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (153187750..153245927)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (153345830..153404007)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E6002 Neighboring gene predicted gene, 39961 Neighboring gene kinesin family member 3B Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:153161910-153162194 Neighboring gene RIKEN cDNA 2500004C02 gene Neighboring gene STARR-positive B cell enhancer ABC_E7869 Neighboring gene STARR-seq mESC enhancer starr_06089 Neighboring gene STARR-positive B cell enhancer ABC_E7870 Neighboring gene predicted gene 14472 Neighboring gene nucleolar protein 4-like Neighboring gene RIKEN cDNA 4930404H24 gene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Asxl1 deletion disrupts MYC and RNA polymerase II function in granulocyte progenitors. Braun TP, et al. Leukemia, 2023 Feb. PMID 36526735, Free PMC Article
  2. ASXL1 mutations accelerate bone marrow fibrosis via EGR1-TNFA axis-mediated neoplastic fibrocyte generation in myeloproliferative neoplasms. Shi Z, et al. Haematologica, 2023 May 1. PMID 36005555, Free PMC Article
  3. Asxl1 ablation in mouse embryonic stem cells impairs neural differentiation without affecting self-renewal. An S, et al. Biochem Biophys Res Commun, 2019 Jan 15. PMID 30545639
  4. Gain of function of ASXL1 truncating protein in the pathogenesis of myeloid malignancies. Yang H, et al. Blood, 2018 Jan 18. PMID 29113963, Free PMC Article
  5. The distinct biological implications of Asxl1 mutation and its roles in leukemogenesis revealed by a knock-in mouse model. Hsu YC, et al. J Hematol Oncol, 2017 Jul 11. PMID 28697759, Free PMC Article

See all (65) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ASXL1 mutations accelerate bone marrow fibrosis via EGR1-TNFA axis-mediated neoplastic fibrocyte generation in myeloproliferative neoplasms.
    Title: ASXL1 mutations accelerate bone marrow fibrosis via EGR1-TNFA axis-mediated neoplastic fibrocyte generation in myeloproliferative neoplasms.
  2. Asxl1 deletion disrupts MYC and RNA polymerase II function in granulocyte progenitors.
    Title: Asxl1 deletion disrupts MYC and RNA polymerase II function in granulocyte progenitors.
  3. ASXL1/2 mutations and myeloid malignancies.
    Title: ASXL1/2 mutations and myeloid malignancies.
  4. CHIP-associated mutant ASXL1 in blood cells promotes solid tumor progression.
    Title: CHIP-associated mutant ASXL1 in blood cells promotes solid tumor progression.
  5. Asxl1 loss cooperates with oncogenic Nras in mice to reprogram the immune microenvironment and drive leukemic transformation.
    Title: Asxl1 loss cooperates with oncogenic Nras in mice to reprogram the immune microenvironment and drive leukemic transformation.
  6. A histone modifier, ASXL1, interacts with NONO and is involved in paraspeckle formation in hematopoietic cells.
    Title: A histone modifier, ASXL1, interacts with NONO and is involved in paraspeckle formation in hematopoietic cells.
  7. BAP1/ASXL complex modulation regulates epithelial-mesenchymal transition during trophoblast differentiation and invasion.
    Title: BAP1/ASXL complex modulation regulates epithelial-mesenchymal transition during trophoblast differentiation and invasion.
  8. The ASXL1-G643W variant accelerates the development of CEBPA mutant acute myeloid leukemia.
    Title: The ASXL1-G643W variant accelerates the development of CEBPA mutant acute myeloid leukemia.
  9. Mutant ASXL1 induces age-related expansion of phenotypic hematopoietic stem cells through activation of Akt/mTOR pathway.
    Title: Mutant ASXL1 induces age-related expansion of phenotypic hematopoietic stem cells through activation of Akt/mTOR pathway.
  10. Asxl1 exerts an antiproliferative effect on mouse lung maturation via epigenetic repression of the E2f1-Nmyc axis.
    Title: Asxl1 exerts an antiproliferative effect on mouse lung maturation via epigenetic repression of the E2f1-Nmyc axis.
Submit: New GeneRIF Correction See all GeneRIFs (33)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0978, DKFZp434N0535

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables nuclear retinoic acid receptor binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables peroxisome proliferator activated receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables peroxisome proliferator activated receptor binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription coactivator activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in animal organ morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within animal organ morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within bone development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within bone marrow development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cell morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within chromatin organization IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within heart morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within hematopoietic or lymphoid organ development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within hemopoiesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within homeostasis of number of cells IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within lung saccule development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of fat cell differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of lipid storage ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of peroxisome proliferator activated receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in podocyte development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of retinoic acid receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of kidney size IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to retinoic acid IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within thymus development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of PR-DUB complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of PR-DUB complex ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
polycomb group protein ASXL1
Names
additional sex combs like 1
additional sex combs-like protein 1
putative Polycomb group protein ASXL1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001039939.2 → NP_001035028.1  polycomb group protein ASXL1

    See identical proteins and their annotated locations for NP_001035028.1

    Status: VALIDATED

    Source sequence(s)
    AK122413, AK141208, AL807380, BC076565
    Consensus CDS
    CCDS38285.1
    UniProtKB/Swiss-Prot
    P59598
    UniProtKB/TrEMBL
    A0A2I3BQW0, Q24JP2
    Related
    ENSMUSP00000105413.2, ENSMUST00000109790.2
    Conserved Domains (3) summary
    pfam13922
    Location:1479 → 1512
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam05066
    Location:11 → 83
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:236 → 359
    ASXH; Asx homology domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    153187750..153245927
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036161492.1 → XP_036017385.1  polycomb group protein ASXL1 isoform X1

    UniProtKB/TrEMBL
    A0A2I3BQW0
    Conserved Domains (3) summary
    pfam13922
    Location:1460 → 1493
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam05066
    Location:1 → 55
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:217 → 340
    ASXH; Asx homology domain

  2. XM_006499330.4 → XP_006499393.1  polycomb group protein ASXL1 isoform X2

    UniProtKB/TrEMBL
    A0A2I3BQW0
    Conserved Domains (2) summary
    pfam13922
    Location:1399 → 1432
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam13919
    Location:156 → 279
    ASXH; Asx homology domain

RNA

  1. XR_374455.5 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P59598.1 GenPept UniProtKB/Swiss-Prot:P59598

Gene LinkOut

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