AEN apoptosis enhancing nuclease [Homo sapiens (human)] - Gene

Summary

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, Oct 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

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

identification of ISG20L1 as a p53 family target and discovery that modulation of this target can regulate autophagic processes further strengthens the connection between p53 signaling and autophagy
Title: ISG20L1 is a p53 family target gene that modulates genotoxic stress-induced autophagy.
AEN is an important downstream mediator of p53 in apoptosis induction in cancer.
Title: p53 target gene AEN is a nuclear exonuclease required for p53-dependent apoptosis.

Submit: New GeneRIF Correction

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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)

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

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

88604683..88632281

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

C9J571, Q8WTP8, Q9BSA5, Q9H9X7
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
XM_047432946.1 → XP_047288902.1 apoptosis-enhancing nuclease isoform X1

UniProtKB/Swiss-Prot

C9J571, Q8WTP8, Q9BSA5, Q9H9X7
XM_047432945.1 → XP_047288901.1 apoptosis-enhancing nuclease isoform X2
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
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