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Protein

Apoptosis-enhancing nuclease

Gene

AEN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Exonuclease with activity against single- and double-stranded DNA and RNA. Mediates p53-induced apoptosis. When induced by p53 following DNA damage, digests double-stranded DNA to form single-stranded DNA and amplifies DNA damage signals, leading to enhancement of apoptosis.2 Publications

GO - Molecular functioni

  • exonuclease activity Source: UniProtKB
  • nucleic acid binding Source: InterPro

GO - Biological processi

  • intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator Source: UniProtKB
  • response to ionizing radiation Source: UniProtKB

Keywordsi

Molecular functionExonuclease, Hydrolase, Nuclease
Biological processApoptosis, DNA damage

Names & Taxonomyi

Protein namesi
Recommended name:
Apoptosis-enhancing nuclease (EC:3.1.-.-)
Alternative name(s):
Interferon-stimulated 20 kDa exonuclease-like 1
Gene namesi
Name:AEN
Synonyms:ISG20L1
ORF Names:SBBI58
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:25722. AEN.

Subcellular locationi

  • Nucleus
  • Nucleusnucleolus

  • Note: Localized predomintly in the nucleolus. Translocates from the nucleolus to the nucleoplasm upon apoptosis induction.

GO - Cellular componenti

  • nuclear membrane Source: HPA
  • nucleolus Source: UniProtKB
  • nucleoplasm Source: UniProtKB
  • nucleus Source: HPA

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi114D → A: Abolishes exonuclease activity; when associated with A-116 and A-258. 1 Publication1
Mutagenesisi116E → A: Abolishes exonuclease activity; when associated with A-114 and A-258. 1 Publication1
Mutagenesisi258D → A: Abolishes exonuclease activity; when associated with A-114 and A-116. 1 Publication1

Organism-specific databases

OpenTargetsiENSG00000181026.
PharmGKBiPA162375720.

Polymorphism and mutation databases

BioMutaiAEN.
DMDMi296434390.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003240881 – 325Apoptosis-enhancing nucleaseAdd BLAST325

Proteomic databases

MaxQBiQ8WTP8.
PaxDbiQ8WTP8.
PeptideAtlasiQ8WTP8.
PRIDEiQ8WTP8.

PTM databases

iPTMnetiQ8WTP8.
PhosphoSitePlusiQ8WTP8.

Expressioni

Inductioni

Up-regulated by p53/TP53 in response to ionizing radiation and DNA-damaging agents such as adriamycin. Phosphorylation of p53/TP53 at 'Ser-15' is required for effective induction.2 Publications

Gene expression databases

BgeeiENSG00000181026.
CleanExiHS_AEN.
ExpressionAtlasiQ8WTP8. baseline and differential.
GenevisibleiQ8WTP8. HS.

Organism-specific databases

HPAiHPA048599.

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi122292. 37 interactors.
IntActiQ8WTP8. 32 interactors.
STRINGi9606.ENSP00000331944.

Structurei

3D structure databases

ProteinModelPortaliQ8WTP8.
SMRiQ8WTP8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini110 – 266ExonucleaseAdd BLAST157

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi27 – 35Nucleolar localization signal9
Motifi165 – 188Nuclear localization signal1 PublicationAdd BLAST24

Phylogenomic databases

eggNOGiKOG2249. Eukaryota.
COG0847. LUCA.
GeneTreeiENSGT00520000055542.
HOGENOMiHOG000182422.
HOVERGENiHBG100435.
InParanoidiQ8WTP8.
KOiK18340.
OMAiGPLPSKC.
OrthoDBiEOG090B09BZ.
PhylomeDBiQ8WTP8.
TreeFamiTF354340.

Family and domain databases

Gene3Di3.30.420.10. 1 hit.
InterProiView protein in InterPro
IPR013520. Exonuclease_RNaseT/DNA_pol3.
IPR012337. RNaseH-like_dom.
PfamiView protein in Pfam
PF00929. RNase_T. 1 hit.
SMARTiView protein in SMART
SM00479. EXOIII. 1 hit.
SUPFAMiSSF53098. SSF53098. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8WTP8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MVPREAPESA QCLCPSLTIP NAKDVLRKRH KRRSRQHQRF MARKALLQEQ
60 70 80 90 100
GLLSMPPEPG SSPLPTPFGA ATATEAASSG KQCLRAGSGS APCSRRPAPG
110 120 130 140 150
KASGPLPSKC VAIDCEMVGT GPRGRVSELA RCSIVSYHGN VLYDKYIRPE
160 170 180 190 200
MPIADYRTRW SGITRQHMRK AVPFQVAQKE ILKLLKGKVV VGHALHNDFQ
210 220 230 240 250
ALKYVHPRSQ TRDTTYVPNF LSEPGLHTRA RVSLKDLALQ LLHKKIQVGQ
260 270 280 290 300
HGHSSVEDAT TAMELYRLVE VQWEQQEARS LWTCPEDREP DSSTDMEQYM
310 320
EDQYWPDDLA HGSRGGAREA QDRRN
Length:325
Mass (Da):36,350
Last modified:May 18, 2010 - v2
Checksum:iF230BA301CB4FD88
GO
Isoform 2 (identifier: Q8WTP8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     304-325: YWPDDLAHGSRGGAREAQDRRN → STQYWALKQKSEKQDSGLNSGAFV

Show »
Length:327
Mass (Da):36,496
Checksum:i31DEF4A10A4E5F3A
GO

Sequence cautioni

The sequence AAH14407 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB14091 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03965115P → L. Corresponds to variant dbSNP:rs3743477Ensembl.1
Natural variantiVAR_03965288S → C. Corresponds to variant dbSNP:rs8026929Ensembl.1
Natural variantiVAR_039653140N → D4 PublicationsCorresponds to variant dbSNP:rs8027765Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_032132304 – 325YWPDD…QDRRN → STQYWALKQKSEKQDSGLNS GAFV in isoform 2. 1 PublicationAdd BLAST22

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF327352 mRNA. Translation: AAL56012.1.
AC013489 Genomic DNA. No translation available.
CH471101 Genomic DNA. Translation: EAX02009.1.
BC005164 mRNA. Translation: AAH05164.1.
BC014407 mRNA. Translation: AAH14407.1. Different initiation.
BC020988 mRNA. Translation: AAH20988.1.
AK022546 mRNA. Translation: BAB14091.1. Different initiation.
CCDSiCCDS10344.1. [Q8WTP8-1]
RefSeqiNP_073604.3. NM_022767.3. [Q8WTP8-1]
XP_005255023.1. XM_005254966.1. [Q8WTP8-1]
XP_005255024.1. XM_005254967.1. [Q8WTP8-1]
XP_011520207.1. XM_011521905.2. [Q8WTP8-1]
XP_016877978.1. XM_017022489.1. [Q8WTP8-1]
UniGeneiHs.436102.

Genome annotation databases

EnsembliENST00000332810; ENSP00000331944; ENSG00000181026. [Q8WTP8-1]
GeneIDi64782.
KEGGihsa:64782.
UCSCiuc002bmt.3. human. [Q8WTP8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF327352 mRNA. Translation: AAL56012.1.
AC013489 Genomic DNA. No translation available.
CH471101 Genomic DNA. Translation: EAX02009.1.
BC005164 mRNA. Translation: AAH05164.1.
BC014407 mRNA. Translation: AAH14407.1. Different initiation.
BC020988 mRNA. Translation: AAH20988.1.
AK022546 mRNA. Translation: BAB14091.1. Different initiation.
CCDSiCCDS10344.1. [Q8WTP8-1]
RefSeqiNP_073604.3. NM_022767.3. [Q8WTP8-1]
XP_005255023.1. XM_005254966.1. [Q8WTP8-1]
XP_005255024.1. XM_005254967.1. [Q8WTP8-1]
XP_011520207.1. XM_011521905.2. [Q8WTP8-1]
XP_016877978.1. XM_017022489.1. [Q8WTP8-1]
UniGeneiHs.436102.

3D structure databases

ProteinModelPortaliQ8WTP8.
SMRiQ8WTP8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122292. 37 interactors.
IntActiQ8WTP8. 32 interactors.
STRINGi9606.ENSP00000331944.

PTM databases

iPTMnetiQ8WTP8.
PhosphoSitePlusiQ8WTP8.

Polymorphism and mutation databases

BioMutaiAEN.
DMDMi296434390.

Proteomic databases

MaxQBiQ8WTP8.
PaxDbiQ8WTP8.
PeptideAtlasiQ8WTP8.
PRIDEiQ8WTP8.

Protocols and materials databases

DNASUi64782.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000332810; ENSP00000331944; ENSG00000181026. [Q8WTP8-1]
GeneIDi64782.
KEGGihsa:64782.
UCSCiuc002bmt.3. human. [Q8WTP8-1]

Organism-specific databases

CTDi64782.
GeneCardsiAEN.
H-InvDBHIX0012556.
HGNCiHGNC:25722. AEN.
HPAiHPA048599.
MIMi610177. gene.
neXtProtiNX_Q8WTP8.
OpenTargetsiENSG00000181026.
PharmGKBiPA162375720.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2249. Eukaryota.
COG0847. LUCA.
GeneTreeiENSGT00520000055542.
HOGENOMiHOG000182422.
HOVERGENiHBG100435.
InParanoidiQ8WTP8.
KOiK18340.
OMAiGPLPSKC.
OrthoDBiEOG090B09BZ.
PhylomeDBiQ8WTP8.
TreeFamiTF354340.

Miscellaneous databases

GenomeRNAii64782.
PROiQ8WTP8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000181026.
CleanExiHS_AEN.
ExpressionAtlasiQ8WTP8. baseline and differential.
GenevisibleiQ8WTP8. HS.

Family and domain databases

Gene3Di3.30.420.10. 1 hit.
InterProiView protein in InterPro
IPR013520. Exonuclease_RNaseT/DNA_pol3.
IPR012337. RNaseH-like_dom.
PfamiView protein in Pfam
PF00929. RNase_T. 1 hit.
SMARTiView protein in SMART
SM00479. EXOIII. 1 hit.
SUPFAMiSSF53098. SSF53098. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiAEN_HUMAN
AccessioniPrimary (citable) accession number: Q8WTP8
Secondary accession number(s): C9J571, Q9BSA5, Q9H9X7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: May 18, 2010
Last modified: February 15, 2017
This is version 124 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.