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AEN apoptosis enhancing nuclease [ Homo sapiens (human) ]

Gene ID: 64782, updated on 30-Mar-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 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, Apr 2022]
Expression
Ubiquitous expression in gall bladder (RPKM 5.8), thyroid (RPKM 5.8) and 25 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (88604683..88632281)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (86359390..86386993)
105.20220307 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. 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
  2. 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
  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 (22) 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)

Genotypes

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 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_2023_10

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

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