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    Aen apoptosis enhancing nuclease [ Mus musculus (house mouse) ]

    Gene ID: 68048, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Aenprovided by MGI
    Official Full Name
    apoptosis enhancing nucleaseprovided by MGI
    Primary source
    MGI:MGI:1915298
    See related
    Ensembl:ENSMUSG00000030609 AllianceGenome:MGI:1915298
    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
    Isg20l1; 2700083B06Rik
    Summary
    Predicted to enable exonuclease activity. Predicted to be involved in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator and response to ionizing radiation. Predicted to act upstream of or within apoptotic process and cellular response to DNA damage stimulus. Predicted to be located in nuclear membrane; nucleolus; and nucleoplasm. Predicted to be active in nucleus. Orthologous to human AEN (apoptosis enhancing nuclease). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in ovary adult (RPKM 12.3), genital fat pad adult (RPKM 10.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Aen in Genome Data Viewer
    Location:
    7 44.83 cM; 7 D2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (78545675..78560957)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (78895927..78911209)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 57212 Neighboring gene microRNA 7-2 Neighboring gene STARR-seq mESC enhancer starr_19256 Neighboring gene predicted gene, 39039 Neighboring gene STARR-positive B cell enhancer ABC_E8179 Neighboring gene interferon-stimulated protein Neighboring gene predicted gene, 31213

    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. A p53-dependent translational program directs tissue-selective phenotypes in a model of ribosomopathies. Tiu GC, et al. Dev Cell, 2021 Jul 26. PMID 34242585, Free PMC Article
    2. Post-transcriptional regulation by the exosome complex is required for cell survival and forebrain development via repression of P53 signaling. Ulmke PA, et al. Development, 2021 Feb 8. PMID 33462115, Free PMC Article
    3. Ddx20, an Olig2 binding factor, governs the survival of neural and oligodendrocyte progenitor cells via proper Mdm2 splicing and p53 suppression. Bizen N, et al. Cell Death Differ, 2022 May. PMID 34974536, Free PMC Article
    4. Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method. Piao Y, et al. Genome Res, 2001 Sep. PMID 11544199, Free PMC Article
    5. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA exonuclease activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables exonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables exonuclease activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nuclease activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to ionizing radiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in nuclear membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    apoptosis-enhancing nuclease
    Names
    interferon stimulated exonuclease gene 20-like 1
    interferon-stimulated 20 kDa exonuclease-like 1
    NP_001156411.1
    NP_001347638.1
    NP_080807.3

    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_001162939.2 → NP_001156411.1  apoptosis-enhancing nuclease isoform 2

      See identical proteins and their annotated locations for NP_001156411.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC138376, AK031972, AK165708
      Consensus CDS
      CCDS52277.1
      UniProtKB/Swiss-Prot
      Q9CZI9
      Related
      ENSMUSP00000103044.2, ENSMUST00000107421.8
      Conserved Domains (2) summary
      COG0847
      Location:72 → 229
      DnaQ; DNA polymerase III, epsilon subunit or related 3'-5' exonuclease [Replication, recombination and repair]
      cl10012
      Location:72 → 228
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

    2. NM_001360709.1 → NP_001347638.1  apoptosis-enhancing nuclease isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 both encode the same isoform (1).
      Source sequence(s)
      AC138376, AK031972, CX211663
      Consensus CDS
      CCDS39988.2
      UniProtKB/Swiss-Prot
      Q3TKV9, Q8BTJ8, Q8C095, Q9CZI9
      Related
      ENSMUSP00000103046.2, ENSMUST00000107423.2
      Conserved Domains (1) summary
      cl10012
      Location:110 → 266
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

    3. NM_026531.5 → NP_080807.3  apoptosis-enhancing nuclease isoform 1

      See identical proteins and their annotated locations for NP_080807.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 3 both encode the same isoform (1).
      Source sequence(s)
      AC138376, AK031972
      Consensus CDS
      CCDS39988.2
      UniProtKB/Swiss-Prot
      Q3TKV9, Q8BTJ8, Q8C095, Q9CZI9
      Related
      ENSMUSP00000103048.2, ENSMUST00000107425.8
      Conserved Domains (1) summary
      cl10012
      Location:110 → 266
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

    RNA

    1. NR_153795.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AC138376
      Related
      ENSMUST00000123824.2

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      78545675..78560957
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CZI9.1 GenPept UniProtKB/Swiss-Prot:Q9CZI9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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