• Gene id: 64782

Gene Summary

• Gene Symbol: AEN   Gene   UCSC   Ensembl
• Aliases: ISG20L1, pp12744
• Gene name: apoptosis enhancing nuclease
• Alternate names: apoptosis-enhancing nuclease, interferon stimulated exonuclease gene 20kDa-like 1, interferon-stimulated 20 kDa exonuclease-like 1,
• Gene location: 15q26.1 (88604600: 88632280)     Exons: 8     NC_000015.10
• OMIM: 610177

Protein Summary

• Protein general information: Q8WTP8  
  • Name: Apoptosis enhancing nuclease (EC 3.1. . ) (Interferon stimulated 20 kDa exonuclease like 1)
  • Length: 325  
  • Mass: 36350
• Sequence:

  MVPREAPESAQCLCPSLTIPNAKDVLRKRHKRRSRQHQRFMARKALLQEQGLLSMPPEPGSSPLPTPFGAATATE
  AASSGKQCLRAGSGSAPCSRRPAPGKASGPLPSKCVAIDCEMVGTGPRGRVSELARCSIVSYHGNVLYDKYIRPE
  MPIADYRTRWSGITRQHMRKAVPFQVAQKEILKLLKGKVVVGHALHNDFQALKYVHPRSQTRDTTYVPNFLSEPG
  LHTRARVSLKDLALQLLHKKIQVGQHGHSSVEDATTAMELYRLVEVQWEQQEARSLWTCPEDREPDSSTDMEQYM
  EDQYWPDDLAHGSRGGAREAQDRRN

• Structural information:
  • Protein Domains: (110..26-)
    (/note="Exonuclease"-)
  • Interpro: IPR013520  IPR012337  IPR036397  
  • STRING: ENSP00000331944
• Other Databases: GeneCards:  AEN  Malacards:  AEN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004527	exonuclease activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0000738	DNA catabolic process, exonucleolytic	IBA	biological process
GO:0006401	RNA catabolic process	IBA	biological process
GO:0042771	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IBA	biological process
GO:0045071	negative regulation of viral genome replication	IBA	biological process
GO:0051607	defense response to virus	IBA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0004527	exonuclease activity	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0004527	exonuclease activity	IDA	molecular function
GO:0010212	response to ionizing radiation	IDA	biological process
GO:0004527	exonuclease activity	IDA	molecular function
GO:0042771	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IDA	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881