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

    Gene ID: 228790, updated on 27-Nov-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 nuclear retinoic acid receptor binding activity; peroxisome proliferator activated receptor binding activity; and transcription coactivator activity. Involved in several processes, including kidney development; negative regulation of fat cell differentiation; and regulation of intracellular signal transduction. Acts upstream of or within several processes, including heart morphogenesis; hematopoietic or lymphoid organ development; and lung saccule development. Located in nucleus. Is expressed in several structures, including brain; dorsal root ganglion; limb bud; 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, Nov 2024]
    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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    See Asxl1 in Genome Data Viewer
    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 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
    3. 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
    4. 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
    5. Loss of Asxl1 leads to myelodysplastic syndrome-like disease in mice. Wang J, et al. Blood, 2014 Jan 23. PMID 24255920, Free PMC Article

    See all (69) 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 
    involved_in 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 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
    		  
    part_of PR-DUB complex ISS
    Inferred from Sequence or Structural Similarity
    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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