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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Enzymes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
14
Cytoband
q11.2
Chromosome location (bp)
20455191 - 20457772
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Multifunctional protein that plays a central role in the cellular response to oxidative stress. The two major activities of APEX1 are DNA repair and redox regulation of transcriptional factors. Functions as an apurinic/apyrimidinic (AP) endodeoxyribonuclease in the DNA base excision repair (BER) pathway of DNA lesions induced by oxidative and alkylating agents. Initiates repair of AP sites in DNA by catalyzing hydrolytic incision of the phosphodiester backbone immediately adjacent to the damage, generating a single-strand break with 5'-deoxyribose phosphate and 3'-hydroxyl ends. Also incises at AP sites in the DNA strand of DNA/RNA hybrids, single-stranded DNA regions of R-loop structures, and single-stranded RNA molecules. Has 3'-5' exoribonuclease activity on mismatched deoxyribonucleotides at the 3' termini of nicked or gapped DNA molecules during short-patch BER. Possesses DNA 3' phosphodiesterase activity capable of removing lesions (such as phosphoglycolate) blocking the 3' side of DNA strand breaks. May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation. Acts as a loading factor for POLB onto non-incised AP sites in DNA and stimulates the 5'-terminal deoxyribose 5'-phosphate (dRp) excision activity of POLB. Plays a role in protection from granzyme-mediated cellular repair leading to cell death. Also involved in the DNA cleavage step of class switch recombination (CSR). On the other hand, APEX1 also exerts reversible nuclear redox activity to regulate DNA binding affinity and transcriptional activity of transcriptional factors by controlling the redox status of their DNA-binding domain, such as the FOS/JUN AP-1 complex after exposure to IR. Involved in calcium-dependent down-regulation of parathyroid hormone (PTH) expression by binding to negative calcium response elements (nCaREs). Together with HNRNPL or the dimer XRCC5/XRCC6, associates with nCaRE, acting as an activator of transcriptional repression. Stimulates the YBX1-mediated MDR1 promoter activity, when acetylated at Lys-6 and Lys-7, leading to drug resistance. Acts also as an endoribonuclease involved in the control of single-stranded RNA metabolism. Plays a role in regulating MYC mRNA turnover by preferentially cleaving in between UA and CA dinucleotides of the MYC coding region determinant (CRD). In association with NMD1, plays a role in the rRNA quality control process during cell cycle progression. Associates, together with YBX1, on the MDR1 promoter. Together with NPM1, associates with rRNA. Binds DNA and RNA....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, DNA recombination, DNA repair, Transcription, Transcription regulation
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Magnesium, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
The APEX gene encodes the major AP endonuclease in human cells. It encodes the APEX endonuclease, a DNA repair enzyme with apurinic/apyrimidinic (AP) activity. Such AP activity sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. The AP sites are the most frequent pre-mutagenic lesions that can prevent normal DNA replication. Splice variants have been found for this gene; all encode the same protein. Disruptions in the biological functions related to APEX are associated with many various malignancies and neurodegenerative diseases.[provided by RefSeq, Dec 2019]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
P27695 [Direct mapping] DNA-(apurinic or apyrimidinic site) endonuclease DNA-(apurinic or apyrimidinic site) endonuclease, mitochondrial
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Q5TZP7 [Target identity:100%; Query identity:100%] DNA-(apurinic or apyrimidinic site) endonuclease
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Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000723[telomere maintenance] GO:0000737[DNA catabolic process, endonucleolytic] GO:0000781[chromosome, telomeric region] GO:0003677[DNA binding] GO:0003684[damaged DNA binding] GO:0003691[double-stranded telomeric DNA binding] GO:0003713[transcription coactivator activity] GO:0003714[transcription corepressor activity] GO:0003723[RNA binding] GO:0003824[catalytic activity] GO:0003906[DNA-(apurinic or apyrimidinic site) endonuclease activity] GO:0004518[nuclease activity] GO:0004519[endonuclease activity] GO:0004520[endodeoxyribonuclease activity] GO:0004521[endoribonuclease activity] GO:0004523[RNA-DNA hybrid ribonuclease activity] GO:0004527[exonuclease activity] GO:0004528[phosphodiesterase I activity] GO:0004844[uracil DNA N-glycosylase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005783[endoplasmic reticulum] GO:0005813[centrosome] GO:0005840[ribosome] GO:0006281[DNA repair] GO:0006284[base-excision repair] GO:0006287[base-excision repair, gap-filling] GO:0006310[DNA recombination] GO:0006974[cellular response to DNA damage stimulus] GO:0007568[aging] GO:0008081[phosphoric diester hydrolase activity] GO:0008296[3'-5'-exodeoxyribonuclease activity] GO:0008309[double-stranded DNA exodeoxyribonuclease activity] GO:0008311[double-stranded DNA 3'-5' exodeoxyribonuclease activity] GO:0008408[3'-5' exonuclease activity] GO:0009410[response to xenobiotic stimulus] GO:0010243[response to organonitrogen compound] GO:0014912[negative regulation of smooth muscle cell migration] GO:0016491[oxidoreductase activity] GO:0016607[nuclear speck] GO:0016787[hydrolase activity] GO:0016890[site-specific endodeoxyribonuclease activity, specific for altered base] GO:0031490[chromatin DNA binding] GO:0042981[regulation of apoptotic process] GO:0043488[regulation of mRNA stability] GO:0044877[protein-containing complex binding] GO:0045454[cell redox homeostasis] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048471[perinuclear region of cytoplasm] GO:0051059[NF-kappaB binding] GO:0052720[class II DNA-(apurinic or apyrimidinic site) endonuclease activity] GO:0070301[cellular response to hydrogen peroxide] GO:0071320[cellular response to cAMP] GO:0071375[cellular response to peptide hormone stimulus] GO:0071417[cellular response to organonitrogen compound] GO:0080111[DNA demethylation] GO:0090305[nucleic acid phosphodiester bond hydrolysis] GO:0090502[RNA phosphodiester bond hydrolysis, endonucleolytic] GO:0090580[phosphodiesterase activity, acting on 3'-phosphoglycolate-terminated DNA strands] GO:0097698[telomere maintenance via base-excision repair] GO:0140431[DNA-(abasic site) binding] GO:1900087[positive regulation of G1/S transition of mitotic cell cycle]
P27695 [Direct mapping] DNA-(apurinic or apyrimidinic site) endonuclease DNA-(apurinic or apyrimidinic site) endonuclease, mitochondrial
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Q5TZP7 [Target identity:100%; Query identity:100%] DNA-(apurinic or apyrimidinic site) endonuclease
Show all
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000723[telomere maintenance] GO:0000737[DNA catabolic process, endonucleolytic] GO:0000781[chromosome, telomeric region] GO:0003677[DNA binding] GO:0003684[damaged DNA binding] GO:0003691[double-stranded telomeric DNA binding] GO:0003713[transcription coactivator activity] GO:0003714[transcription corepressor activity] GO:0003723[RNA binding] GO:0003824[catalytic activity] GO:0003906[DNA-(apurinic or apyrimidinic site) endonuclease activity] GO:0004518[nuclease activity] GO:0004519[endonuclease activity] GO:0004520[endodeoxyribonuclease activity] GO:0004523[RNA-DNA hybrid ribonuclease activity] GO:0004527[exonuclease activity] GO:0004528[phosphodiesterase I activity] GO:0004844[uracil DNA N-glycosylase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005783[endoplasmic reticulum] GO:0005813[centrosome] GO:0005840[ribosome] GO:0006281[DNA repair] GO:0006284[base-excision repair] GO:0006287[base-excision repair, gap-filling] GO:0006310[DNA recombination] GO:0006974[cellular response to DNA damage stimulus] GO:0008081[phosphoric diester hydrolase activity] GO:0008296[3'-5'-exodeoxyribonuclease activity] GO:0008309[double-stranded DNA exodeoxyribonuclease activity] GO:0008311[double-stranded DNA 3'-5' exodeoxyribonuclease activity] GO:0008408[3'-5' exonuclease activity] GO:0016491[oxidoreductase activity] GO:0016607[nuclear speck] GO:0016787[hydrolase activity] GO:0016890[site-specific endodeoxyribonuclease activity, specific for altered base] GO:0031490[chromatin DNA binding] GO:0042981[regulation of apoptotic process] GO:0043488[regulation of mRNA stability] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048471[perinuclear region of cytoplasm] GO:0052720[class II DNA-(apurinic or apyrimidinic site) endonuclease activity] GO:0080111[DNA demethylation] GO:0090305[nucleic acid phosphodiester bond hydrolysis] GO:0090502[RNA phosphodiester bond hydrolysis, endonucleolytic] GO:0090580[phosphodiesterase activity, acting on 3'-phosphoglycolate-terminated DNA strands] GO:0097698[telomere maintenance via base-excision repair] GO:0140431[DNA-(abasic site) binding]
P27695 [Direct mapping] DNA-(apurinic or apyrimidinic site) endonuclease DNA-(apurinic or apyrimidinic site) endonuclease, mitochondrial
Show all
Q5TZP7 [Target identity:100%; Query identity:100%] DNA-(apurinic or apyrimidinic site) endonuclease
Show all
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000723[telomere maintenance] GO:0000737[DNA catabolic process, endonucleolytic] GO:0000781[chromosome, telomeric region] GO:0003677[DNA binding] GO:0003684[damaged DNA binding] GO:0003691[double-stranded telomeric DNA binding] GO:0003713[transcription coactivator activity] GO:0003714[transcription corepressor activity] GO:0003723[RNA binding] GO:0003824[catalytic activity] GO:0003906[DNA-(apurinic or apyrimidinic site) endonuclease activity] GO:0004518[nuclease activity] GO:0004519[endonuclease activity] GO:0004520[endodeoxyribonuclease activity] GO:0004523[RNA-DNA hybrid ribonuclease activity] GO:0004527[exonuclease activity] GO:0004528[phosphodiesterase I activity] GO:0004844[uracil DNA N-glycosylase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005783[endoplasmic reticulum] GO:0005813[centrosome] GO:0005840[ribosome] GO:0006281[DNA repair] GO:0006284[base-excision repair] GO:0006287[base-excision repair, gap-filling] GO:0006310[DNA recombination] GO:0006974[cellular response to DNA damage stimulus] GO:0008081[phosphoric diester hydrolase activity] GO:0008296[3'-5'-exodeoxyribonuclease activity] GO:0008309[double-stranded DNA exodeoxyribonuclease activity] GO:0008311[double-stranded DNA 3'-5' exodeoxyribonuclease activity] GO:0008408[3'-5' exonuclease activity] GO:0016491[oxidoreductase activity] GO:0016607[nuclear speck] GO:0016787[hydrolase activity] GO:0016890[site-specific endodeoxyribonuclease activity, specific for altered base] GO:0031490[chromatin DNA binding] GO:0042981[regulation of apoptotic process] GO:0043488[regulation of mRNA stability] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048471[perinuclear region of cytoplasm] GO:0052720[class II DNA-(apurinic or apyrimidinic site) endonuclease activity] GO:0080111[DNA demethylation] GO:0090305[nucleic acid phosphodiester bond hydrolysis] GO:0090502[RNA phosphodiester bond hydrolysis, endonucleolytic] GO:0090580[phosphodiesterase activity, acting on 3'-phosphoglycolate-terminated DNA strands] GO:0097698[telomere maintenance via base-excision repair] GO:0140431[DNA-(abasic site) binding]