APEX1

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

APEX1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1BIX, 1CQH, 4LND, 4QH9, 5DFF, 4QHD, 1E9N, 3U8U, 5DFI, 1HD7, 5DG0, 5DFJ, 4QHE, 5DFH, 1DE9, 4IEM, 2ISI, 1DE8, 2O3H, 1CQG, 1DEW, 5CFG
Identifiers
Aliases	APEX1, APE, APE1, APEN, APEX, APX, HAP1, REF1, apurinic/apyrimidinic endodeoxyribonuclease 1
External IDs	OMIM: 107748; MGI: 88042; HomoloGene: 1241; GeneCards: APEX1; OMA:APEX1 - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q11.2 Start 20,455,191 bp[1] End 20,457,772 bp[1]
Gene location (Mouse) Chr. Chromosome 14 (mouse)[2] Band 14 C1|14 26.3 cM Start 51,162,425 bp[2] End 51,164,596 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence ventricular zone islet of Langerhans right adrenal gland right adrenal cortex left ovary right ovary left adrenal cortex gallbladder rectum Top expressed in primitive streak internal carotid artery external carotid artery abdominal wall epiblast condyle maxillary prominence mandibular prominence medial ganglionic eminence embryo More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding nuclease activity endonuclease activity hydrolase activity metal ion binding lyase activity class I DNA-(apurinic or apyrimidinic site) endonuclease activity protein-containing complex binding protein binding exonuclease activity phosphodiesterase I activity double-stranded DNA 3'-5' exodeoxyribonuclease activity endodeoxyribonuclease activity chromatin DNA binding endoribonuclease activity uracil DNA N-glycosylase activity phosphoric diester hydrolase activity site-specific endodeoxyribonuclease activity, specific for altered base double-stranded telomeric DNA binding oxidoreductase activity double-stranded DNA exodeoxyribonuclease activity transcription coactivator activity NF-kappaB binding RNA-DNA hybrid ribonuclease activity damaged DNA binding transcription corepressor activity 3'-5' exonuclease activity DNA-(apurinic or apyrimidinic site) endonuclease activity RNA binding class III/IV DNA-(apurinic or apyrimidinic site) endonuclease activity Cellular component cytoplasm centrosome intracellular anatomical structure mitochondrion nucleus perinuclear region of cytoplasm ribosome transcription regulator complex nuclear speck nucleoplasm nucleolus endoplasmic reticulum Biological process DNA repair nucleic acid phosphodiester bond hydrolysis cellular response to DNA damage stimulus DNA recombination positive regulation of G1/S transition of mitotic cell cycle negative regulation of smooth muscle cell migration regulation of transcription, DNA-templated DNA demethylation cellular response to cAMP RNA phosphodiester bond hydrolysis, endonucleolytic transcription, DNA-templated response to organonitrogen compound cellular response to hydrogen peroxide cellular response to peptide hormone stimulus regulation of mRNA stability cellular response to organonitrogen compound cell redox homeostasis ageing base-excision repair telomere maintenance negative regulation of nucleic acid-templated transcription telomere maintenance via base-excision repair regulation of apoptotic process positive regulation of nucleic acid-templated transcription Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 14: 51.16 – 51.16 Mb PubMed search [3] [4]
Wikidata
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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.^[5]

Interactions

APEX1 has been shown to interact with MUTYH,^[6] Flap structure-specific endonuclease 1^[7] and XRCC1.^[8]

Aging

Deficiency of APEX1 causes accummulation of DNA damage leading to both cellular senescence and features of premature aging.^[9] This finding is consistent with the theory that DNA damage is a primary cause of aging.^[10]