Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 228790, updated on 11-Jul-2021

    Summary

    Official Symbol
    Asxl1provided by MGI
    Official Full Name
    ASXL transcriptional regulator 1provided by MGI
    Primary source
    MGI:MGI:2684063
    See related
    Ensembl:ENSMUSG00000042548
    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
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 11.0), testis adult (RPKM 10.6) and 28 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Asxl1 in Genome Data Viewer
    Location:
    2; 2 H1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109 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)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 2 NC_000068.6 (153171875..153229743)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 39961 Neighboring gene kinesin family member 3B Neighboring gene RIKEN cDNA 2500004C02 gene Neighboring gene predicted gene 14472 Neighboring gene nucleolar protein 4-like Neighboring gene RIKEN cDNA 4930404H24 gene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables peroxisome proliferator activated receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 retinoic acid receptor binding IDA
    Inferred from Direct Assay
    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
    PubMed 
    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
     
    involved_in glomerular visceral epithelial cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 monoubiquitinated histone H2A deubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of fat cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of peroxisome proliferator activated receptor signaling pathway IDA
    Inferred from Direct Assay
    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
    PubMed 
    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 regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    involved_in transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of PR-DUB complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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

    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)

    NEW Try the new Transcript table

    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_001039939.2NP_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
      Q24JP2
      Related
      ENSMUSP00000105413.2, ENSMUST00000109790.2
      Conserved Domains (3) summary
      pfam13922
      Location:14791512
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam05066
      Location:1183
      HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
      pfam13919
      Location:236359
      ASXH; Asx homology domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    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_036161492.1XP_036017385.1  polycomb group protein ASXL1 isoform X1

      Conserved Domains (3) summary
      pfam13922
      Location:14601493
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam05066
      Location:155
      HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
      pfam13919
      Location:217340
      ASXH; Asx homology domain
    2. XM_006499330.4XP_006499393.1  polycomb group protein ASXL1 isoform X2

      Conserved Domains (2) summary
      pfam13922
      Location:13991432
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam13919
      Location:156279
      ASXH; Asx homology domain

    RNA

    1. XR_374455.5 RNA Sequence

    Support Center