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    Asxl3 ASXL transcriptional regulator 3 [ Mus musculus (house mouse) ]

    Gene ID: 211961, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Asxl3provided by MGI
    Official Full Name
    ASXL transcriptional regulator 3provided by MGI
    Primary source
    MGI:MGI:2685175
    See related
    Ensembl:ENSMUSG00000045215 AllianceGenome:MGI:2685175
    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
    Also known as
    Gm329; Gm945; C230079D11Rik; D430002O22Rik; D930044O18Rik
    Summary
    Predicted to enable chromatin binding activity and peroxisome proliferator activated receptor binding activity. Predicted to be involved in animal organ morphogenesis; negative regulation of lipid biosynthetic process; and positive regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be part of PR-DUB complex. Is expressed in cortical plate; cortical subplate; and heart. Human ortholog(s) of this gene implicated in Bainbridge-Ropers syndrome. Orthologous to human ASXL3 (ASXL transcriptional regulator 3). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in whole brain E14.5 (RPKM 1.1), CNS E14 (RPKM 1.0) and 7 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Asxl3 in Genome Data Viewer
    Location:
    18 A2; 18 11.96 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (22477195..22663284)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (22344077..22530227)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_44025 Neighboring gene ribosomal protein SA pseudogene Neighboring gene predicted gene, 41676 Neighboring gene STARR-seq mESC enhancer starr_44026 Neighboring gene STARR-seq mESC enhancer starr_44028 Neighboring gene STARR-seq mESC enhancer starr_44029 Neighboring gene STARR-seq mESC enhancer starr_44030 Neighboring gene nucleolar protein 4 Neighboring gene STARR-seq mESC enhancer starr_44031 Neighboring gene STARR-seq mESC enhancer starr_44032 Neighboring gene STARR-seq mESC enhancer starr_44033 Neighboring gene STARR-seq mESC enhancer starr_44034 Neighboring gene STARR-seq mESC enhancer starr_44036 Neighboring gene predicted gene, 22495

    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 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. Alteration of long non-coding RNAs and mRNAs expression profiles by compound heterozygous ASXL3 mutations in the mouse brain. Zhang S, et al. Bioengineered, 2021 Dec. PMID 34559584, Free PMC Article
    2. Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease. Fu F, et al. Hum Genet, 2021 Feb. PMID 32696347
    3. Characterization of Asxl1, a murine homolog of Additional sex combs, and analysis of the Asx-like gene family. Fisher CL, et al. Gene, 2006 Mar 15. PMID 16412590
    4. Single cell RNA-seq and ATAC-seq analysis of cardiac progenitor cell transition states and lineage settlement. Jia G, et al. Nat Commun, 2018 Nov 19. PMID 30451828, Free PMC Article
    5. Additional sex combs-like family genes are required for normal cardiovascular development. McGinley AL, et al. Genesis, 2014 Jul. PMID 24860998

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Alteration of long non-coding RNAs and mRNAs expression profiles by compound heterozygous ASXL3 mutations in the mouse brain.
      Title: Alteration of long non-coding RNAs and mRNAs expression profiles by compound heterozygous ASXL3 mutations in the mouse brain.
    Submit: New GeneRIF Correction

    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

    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 peroxisome proliferator activated receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in animal organ morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of lipid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of DNA-templated transcription 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
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    putative Polycomb group protein ASXL3
    Names
    additional sex combs like 3, transcriptional regulator
    additional sex combs-like protein 3
    polycomb group protein

    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_001167777.1 → NP_001161249.1  putative Polycomb group protein ASXL3

      See identical proteins and their annotated locations for NP_001161249.1

      Status: VALIDATED

      Source sequence(s)
      AC163208, AK082659, CK637390
      Consensus CDS
      CCDS50234.1
      UniProtKB/Swiss-Prot
      Q8C380, Q8C4A5
      Related
      ENSMUSP00000112793.2, ENSMUST00000120223.8
      Conserved Domains (2) summary
      pfam13922
      Location:2147 → 2202
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam13919
      Location:179 → 302
      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_000084.7 Reference GRCm39 C57BL/6J

      Range
      22477195..22663284
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006525740.3 → XP_006525803.1  putative Polycomb group protein ASXL3 isoform X1

      UniProtKB/Swiss-Prot
      Q8C380, Q8C4A5
      UniProtKB/TrEMBL
      A0A668KLS4
      Related
      ENSMUSP00000159205.2, ENSMUST00000239326.2
      Conserved Domains (3) summary
      pfam13922
      Location:2204 → 2259
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam05066
      Location:11 → 82
      HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
      pfam13919
      Location:236 → 359
      ASXH; Asx homology domain

    2. XM_030250369.1 → XP_030106229.1  putative Polycomb group protein ASXL3 isoform X4

      UniProtKB/Swiss-Prot
      Q8C380, Q8C4A5
      Conserved Domains (2) summary
      pfam13922
      Location:2147 → 2202
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam13919
      Location:179 → 302
      ASXH; Asx homology domain

    3. XM_011246868.2 → XP_011245170.1  putative Polycomb group protein ASXL3 isoform X4

      See identical proteins and their annotated locations for XP_011245170.1

      UniProtKB/Swiss-Prot
      Q8C380, Q8C4A5
      Conserved Domains (2) summary
      pfam13922
      Location:2147 → 2202
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam13919
      Location:179 → 302
      ASXH; Asx homology domain

    4. XM_006525742.5 → XP_006525805.1  putative Polycomb group protein ASXL3 isoform X3

      See identical proteins and their annotated locations for XP_006525805.1

      UniProtKB/Swiss-Prot
      Q8C380, Q8C4A5
      UniProtKB/TrEMBL
      A0A668KLS4
      Conserved Domains (3) summary
      pfam13922
      Location:2177 → 2232
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam05066
      Location:1 → 55
      HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
      pfam13919
      Location:209 → 332
      ASXH; Asx homology domain

    5. XM_030250370.2 → XP_030106230.1  putative Polycomb group protein ASXL3 isoform X4

      UniProtKB/Swiss-Prot
      Q8C380, Q8C4A5
      Conserved Domains (2) summary
      pfam13922
      Location:2147 → 2202
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam13919
      Location:179 → 302
      ASXH; Asx homology domain

    6. XM_006525739.4 → XP_006525802.2  putative Polycomb group protein ASXL3 isoform X3

      UniProtKB/Swiss-Prot
      Q8C380, Q8C4A5
      UniProtKB/TrEMBL
      A0A668KLS4
      Conserved Domains (3) summary
      pfam13922
      Location:2177 → 2232
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam05066
      Location:1 → 55
      HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
      pfam13919
      Location:209 → 332
      ASXH; Asx homology domain

    7. XM_030250371.2 → XP_030106231.1  putative Polycomb group protein ASXL3 isoform X4

      UniProtKB/Swiss-Prot
      Q8C380, Q8C4A5
      Conserved Domains (2) summary
      pfam13922
      Location:2147 → 2202
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam13919
      Location:179 → 302
      ASXH; Asx homology domain

    8. XM_011246867.4 → XP_011245169.1  putative Polycomb group protein ASXL3 isoform X3

      See identical proteins and their annotated locations for XP_011245169.1

      UniProtKB/Swiss-Prot
      Q8C380, Q8C4A5
      UniProtKB/TrEMBL
      A0A668KLS4
      Conserved Domains (3) summary
      pfam13922
      Location:2177 → 2232
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam05066
      Location:1 → 55
      HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
      pfam13919
      Location:209 → 332
      ASXH; Asx homology domain

    9. XM_030250372.2 → XP_030106232.1  putative Polycomb group protein ASXL3 isoform X4

      UniProtKB/Swiss-Prot
      Q8C380, Q8C4A5
      Conserved Domains (2) summary
      pfam13922
      Location:2147 → 2202
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam13919
      Location:179 → 302
      ASXH; Asx homology domain

    10. XM_011246869.4 → XP_011245171.1  putative Polycomb group protein ASXL3 isoform X3

      See identical proteins and their annotated locations for XP_011245171.1

      UniProtKB/Swiss-Prot
      Q8C380, Q8C4A5
      UniProtKB/TrEMBL
      A0A668KLS4
      Conserved Domains (3) summary
      pfam13922
      Location:2177 → 2232
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam05066
      Location:1 → 55
      HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
      pfam13919
      Location:209 → 332
      ASXH; Asx homology domain

    11. XM_006525743.5 → XP_006525806.1  putative Polycomb group protein ASXL3 isoform X3

      See identical proteins and their annotated locations for XP_006525806.1

      UniProtKB/Swiss-Prot
      Q8C380, Q8C4A5
      UniProtKB/TrEMBL
      A0A668KLS4
      Conserved Domains (3) summary
      pfam13922
      Location:2177 → 2232
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam05066
      Location:1 → 55
      HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
      pfam13919
      Location:209 → 332
      ASXH; Asx homology domain

    12. XM_006525741.4 → XP_006525804.1  putative Polycomb group protein ASXL3 isoform X2

      UniProtKB/Swiss-Prot
      Q8C380, Q8C4A5
      UniProtKB/TrEMBL
      A0A668KLS4
      Conserved Domains (3) summary
      pfam13922
      Location:2187 → 2242
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam05066
      Location:29 → 65
      HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
      pfam13919
      Location:219 → 342
      ASXH; Asx homology domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C4A5.3 GenPept UniProtKB/Swiss-Prot:Q8C4A5

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