APEX1

APEX1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesAPEX1, APE, APE1, APEN, APEX, APX, HAP1, REF1, apurinic/apyrimidinic endodeoxyribonuclease 1
External IDsOMIM: 107748; MGI: 88042; HomoloGene: 1241; GeneCards: APEX1; OMA:APEX1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

328

11792

Ensembl

ENSG00000100823

ENSMUSG00000035960

UniProt

P27695

P28352

RefSeq (mRNA)

NM_001244249
NM_001641
NM_080648
NM_080649

NM_009687

RefSeq (protein)

NP_001231178
NP_001632
NP_542379
NP_542380

NP_033817

Location (UCSC)Chr 14: 20.46 – 20.46 MbChr 14: 51.16 – 51.16 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

DNA-(apurinic or apyrimidinic site) lyase is an enzyme that in humans is encoded by the APEX1 gene.

Apurinic/apyrimidinic (AP) sites (also called "abasic sites") occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication. All cells, from simple prokaryotes to humans, have evolved systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site, thereby initiating a process known as base excision repair (BER). The APEX gene (alternatively named APE1, HAP1, APEN) encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein.