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    AEN apoptosis enhancing nuclease [ Homo sapiens (human) ]

    Gene ID: 64782, updated on 2-Nov-2024

    Summary

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    Official Symbol
    AENprovided by HGNC
    Official Full Name
    apoptosis enhancing nucleaseprovided by HGNC
    Primary source
    HGNC:HGNC:25722
    See related
    Ensembl:ENSG00000181026 MIM:610177; AllianceGenome:HGNC:25722
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ISG20L1; pp12744
    Summary
    Enables DNA exonuclease activity. Involved in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator and response to ionizing radiation. Located in nuclear membrane; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in gall bladder (RPKM 5.8), thyroid (RPKM 5.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AEN in Genome Data Viewer
    Location:
    15q26.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (88604683..88632281)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (86359390..86386993)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (89164571..89175512)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89027733-89028522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89031074-89031591 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89031592-89032108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89034431-89034930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89039910-89040410 Neighboring gene mitochondrial ribosomal protein S11 Neighboring gene NANOG hESC enhancer GRCh37_chr15:89045662-89046192 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:89047351-89048125 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89081925-89082504 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89084239-89084817 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89084818-89085395 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:89085416-89085617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6789 Neighboring gene uncharacterized LOC124903547 Neighboring gene DET1 partner of COP1 E3 ubiquitin ligase Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:89090642-89091516 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:89104975-89105595 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89111661-89112160 Neighboring gene long intergenic non-protein coding RNA 1586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89147601-89148307 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:89149021-89149458 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:89156265-89156949 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89163779-89164452 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89164453-89165126 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:89166102-89167301 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89169771-89170314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10029 Neighboring gene Sharpr-MPRA regulatory region 1748 Neighboring gene microRNA 1179 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89181184-89182162 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89182163-89183141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10033 Neighboring gene microRNA 3529 Neighboring gene microRNA 7-2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89191225-89191986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10034 Neighboring gene interferon stimulated exonuclease gene 20 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10035 Neighboring gene uncharacterized LOC105370960 Neighboring gene aggrecan

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of a novel ionizing radiation-induced nuclease, AEN, and its functional characterization in apoptosis. Lee JH, et al. Biochem Biophys Res Commun, 2005 Nov 11. PMID 16171785
    2. ISG20L1 is a p53 family target gene that modulates genotoxic stress-induced autophagy. Eby KG, et al. Mol Cancer, 2010 Apr 29. PMID 20429933, Free PMC Article
    3. p53 target gene AEN is a nuclear exonuclease required for p53-dependent apoptosis. Kawase T, et al. Oncogene, 2008 Jun 19. PMID 18264133
    4. SPOP promotes ATF2 ubiquitination and degradation to suppress prostate cancer progression. Ma J, et al. J Exp Clin Cancer Res, 2018 Jul 11. PMID 29996942, Free PMC Article
    5. Mouse Fem1b interacts with the Nkx3.1 homeoprotein and is required for proper male secondary sexual development. Wang X, et al. Dev Dyn, 2008 Oct. PMID 18816836, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12484, FLJ12562

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA exonuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables exonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables exonuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in RNA processing IBA
    Inferred from Biological aspect of Ancestor
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to ionizing radiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 20kDa-like 1
    interferon-stimulated 20 kDa exonuclease-like 1
    NP_073604.3
    XP_005255023.1
    XP_006720708.2
    XP_016877978.1
    XP_047288901.1
    XP_047288902.1
    XP_047288903.1
    XP_054234601.1
    XP_054234602.1
    XP_054234603.1
    XP_054234604.1
    XP_054234605.1

    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_022767.4 → NP_073604.3  apoptosis-enhancing nuclease

      See identical proteins and their annotated locations for NP_073604.3

      Status: VALIDATED

      Source sequence(s)
      AC013489
      Consensus CDS
      CCDS10344.1
      UniProtKB/Swiss-Prot
      C9J571, Q8WTP8, Q9BSA5, Q9H9X7
      Related
      ENSP00000331944.3, ENST00000332810.4
      Conserved Domains (2) summary
      COG0847
      Location:106 → 314
      DnaQ; DNA polymerase III, epsilon subunit or related 3'-5' exonuclease [Replication, recombination and repair]
      cl10012
      Location:111 → 267
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      88604683..88632281
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432947.1 → XP_047288903.1  apoptosis-enhancing nuclease isoform X1

      UniProtKB/Swiss-Prot
      C9J571, Q8WTP8, Q9BSA5, Q9H9X7

    2. XM_017022489.2 → XP_016877978.1  apoptosis-enhancing nuclease isoform X1

      UniProtKB/Swiss-Prot
      C9J571, Q8WTP8, Q9BSA5, Q9H9X7
      Conserved Domains (2) summary
      COG0847
      Location:106 → 314
      DnaQ; DNA polymerase III, epsilon subunit or related 3'-5' exonuclease [Replication, recombination and repair]
      cl10012
      Location:111 → 267
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

    3. XM_047432946.1 → XP_047288902.1  apoptosis-enhancing nuclease isoform X1

      UniProtKB/Swiss-Prot
      C9J571, Q8WTP8, Q9BSA5, Q9H9X7

    4. XM_047432945.1 → XP_047288901.1  apoptosis-enhancing nuclease isoform X2

    5. XM_005254966.2 → XP_005255023.1  apoptosis-enhancing nuclease isoform X1

      See identical proteins and their annotated locations for XP_005255023.1

      UniProtKB/Swiss-Prot
      C9J571, Q8WTP8, Q9BSA5, Q9H9X7
      Conserved Domains (2) summary
      COG0847
      Location:106 → 314
      DnaQ; DNA polymerase III, epsilon subunit or related 3'-5' exonuclease [Replication, recombination and repair]
      cl10012
      Location:111 → 267
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

    6. XM_006720645.4 → XP_006720708.2  apoptosis-enhancing nuclease isoform X2

      Conserved Domains (2) summary
      COG0847
      Location:106 → 204
      DnaQ; DNA polymerase III, epsilon subunit or related 3'-5' exonuclease [Replication, recombination and repair]
      cl10012
      Location:111 → 247
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      86359390..86386993
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378629.1 → XP_054234604.1  apoptosis-enhancing nuclease isoform X1

    2. XM_054378630.1 → XP_054234605.1  apoptosis-enhancing nuclease isoform X1

    3. XM_054378628.1 → XP_054234603.1  apoptosis-enhancing nuclease isoform X4

    4. XM_054378626.1 → XP_054234601.1  apoptosis-enhancing nuclease isoform X3

    5. XM_054378627.1 → XP_054234602.1  apoptosis-enhancing nuclease isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WTP8.2 GenPept UniProtKB/Swiss-Prot:Q8WTP8

    Gene LinkOut

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

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