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

Gene ID: 211961, updated on 5-Mar-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 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, Apr 2022]
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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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
  • 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 (18) 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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