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 lesi... See more...

Aliases for APEX1 Gene

Aliases for APEX1 Gene

  • Apurinic/Apyrimidinic Endodeoxyribonuclease 1 2 3 5
  • APEN 2 3 4
  • HAP1 2 3 4
  • REF1 2 3 4
  • APE 2 3 4
  • APX 2 3 4
  • APEX Nuclease (Multifunctional DNA Repair Enzyme) 1 2 3
  • DNA-(Apurinic Or Apyrimidinic Site) Endonuclease 3 4
  • Apurinic-Apyrimidinic Endonuclease 1 3 4
  • Redox Factor-1 3 4
  • REF-1 2 4
  • APE-1 2 4
  • APE1 3 4
  • APEX 3 4
  • APEX Nuclease (Multifunctional DNA Repair Enzyme) 2
  • Deoxyribonuclease (Apurinic Or Apyrimidinic) 3
  • Apurinic/Apyrimidinic (Abasic) Endonuclease 3
  • DNA-(Apurinic Or Apyrimidinic Site) Lyase 3
  • AP Endonuclease Class I 3
  • AP Endonuclease 1 4
  • Protein REF-1 3
  • APEX Nuclease 4
  • EC 4.2.99.18 50
  • EC 3.1.-.- 4
  • AP Lyase 3
  • APEX1 5

External Ids for APEX1 Gene

Previous HGNC Symbols for APEX1 Gene

  • APEX

Previous GeneCards Identifiers for APEX1 Gene

  • GC14P018294
  • GC14P014710
  • GC14P018913
  • GC14P019993
  • GC14P020924
  • GC14P001044

Summaries for APEX1 Gene

Entrez Gene Summary for APEX1 Gene

  • 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]

GeneCards Summary for APEX1 Gene

APEX1 (Apurinic/Apyrimidinic Endodeoxyribonuclease 1) is a Protein Coding gene. Diseases associated with APEX1 include Pediatric T-Cell Leukemia and Attenuated Familial Adenomatous Polyposis. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and HIF1Alpha Pathway. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity. An important paralog of this gene is APEX2.

UniProtKB/Swiss-Prot Summary for APEX1 Gene

  • 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 a 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. Does also incise 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 a 3'-5' exoribonuclease activity on mismatched deoxyribonucleotides at the 3' termini of nicked or gapped DNA molecules during short-patch BER. Possesses a 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 the protection from granzymes-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.

Gene Wiki entry for APEX1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for APEX1 Gene

Genomics for APEX1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for APEX1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around APEX1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for APEX1

Top Transcription factor binding sites by QIAGEN in the APEX1 gene promoter:
  • AP-1
  • GR
  • GR-alpha
  • STAT3

Genomic Locations for APEX1 Gene

Latest Assembly
chr14:20,455,191-20,457,772
(GRCh38/hg38)
Size:
2,582 bases
Orientation:
Plus strand

Previous Assembly
chr14:20,923,385-20,925,926
(GRCh37/hg19 by Entrez Gene)
Size:
2,542 bases
Orientation:
Plus strand

chr14:20,923,350-20,925,927
(GRCh37/hg19 by Ensembl)
Size:
2,578 bases
Orientation:
Plus strand

Genomic View for APEX1 Gene

Genes around APEX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APEX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APEX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APEX1 Gene

Proteins for APEX1 Gene

  • Protein details for APEX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P27695-APEX1_HUMAN
    Recommended name:
    DNA-(apurinic or apyrimidinic site) endonuclease
    Protein Accession:
    P27695
    Secondary Accessions:
    • Q969L5
    • Q99775

    Protein attributes for APEX1 Gene

    Size:
    318 amino acids
    Molecular mass:
    35555 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Monomer. Homodimer; disulfide-linked. Component of the SET complex, composed of at least APEX1, SET, ANP32A, HMGB2, NME1 and TREX1. Associates with the dimer XRCC5/XRCC6 in a DNA-dependent manner. Interacts with SIRT1; the interaction is increased in the context of genotoxic stress. Interacts with HDAC1, HDAC2 and HDAC3; the interactions are not dependent on the APEX1 acetylation status. Interacts with XRCC1; the interaction is induced by SIRT1 and increased with the APEX1 acetylated form. Interacts with NPM1 (via N-terminal domain); the interaction is RNA-dependent and decreases in hydrogen peroxide-damaged cells. Interacts (via N-terminus) with YBX1 (via C-terminus); the interaction is increased in presence of APEX1 acetylated at Lys-6 and Lys-7. Interacts with HNRNPL; the interaction is DNA-dependent. Interacts (via N-terminus) with KPNA1 and KPNA2. Interacts with TXN; the interaction stimulates the FOS/JUN AP-1 complex DNA-binding activity in a redox-dependent manner. Interacts with GZMA, KRT8, MDM2, POLB, PRDX6, PRPF19, RPLP0, TOMM20 and WDR77. Binds to CDK5.
    Miscellaneous:
    • Extract of mitochondria, but not of nuclei or cytosol, cleaves recombinant APEX1 to generate a mitochondrial APEX1-sized product (By similarity). The specific activity of the cleaved mitochondrial endodeoxyribonuclease appeared to be about 3-fold higher than that of the full-length form.

    Three dimensional structures from OCA and Proteopedia for APEX1 Gene

neXtProt entry for APEX1 Gene

Selected DME Specific Peptides for APEX1 Gene

P27695:
  • LYEDPPDQKTS
  • DSFRHLYPNT
  • LKICSWNV
  • AYTFWTYM
  • LASRKPLVLCGDLNVAHEEIDLRNPKGNKKNAGFTPQE
  • NVGWRLDY

Post-translational modifications for APEX1 Gene

  • Phosphorylated. Phosphorylation by kinase PKC or casein kinase CK2 results in enhanced redox activity that stimulates binding of the FOS/JUN AP-1 complex to its cognate binding site. AP-endodeoxyribonuclease activity is not affected by CK2-mediated phosphorylation. Phosphorylation of Thr-233 by CDK5 reduces AP-endodeoxyribonuclease activity resulting in accumulation of DNA damage and contributing to neuronal death.
  • Acetylated on Lys-6 and Lys-7. Acetylation is increased by the transcriptional coactivator EP300 acetyltransferase, genotoxic agents like H(2)O(2) and methyl methanesulfonate (MMS). Acetylation increases its binding affinity to the negative calcium response element (nCaRE) DNA promoter. The acetylated form induces a stronger binding of YBX1 to the Y-box sequence in the MDR1 promoter than the unacetylated form. Deacetylated on lysines. Lys-6 and Lys-7 are deacetylated by SIRT1.
  • Cleaved at Lys-31 by granzyme A to create the mitochondrial form; leading in reduction of binding to DNA, AP endodeoxynuclease activity, redox activation of transcription factors and to enhanced cell death. Cleaved by granzyme K; leading to intracellular ROS accumulation and enhanced cell death after oxidative stress.
  • Cys-65 and Cys-93 are nitrosylated in response to nitric oxide (NO) and lead to the exposure of the nuclear export signal (NES).
  • Ubiquitinated by MDM2; leading to translocation to the cytoplasm and proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Abcam antibodies for APEX1

Domains & Families for APEX1 Gene

Gene Families for APEX1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for APEX1 Gene

Suggested Antigen Peptide Sequences for APEX1 Gene

GenScript: Design optimal peptide antigens:
  • Redox factor-1 (APEX1_HUMAN)
  • cDNA FLJ76713, highly similar to Homo sapiens APEX nuclease (multifunctional DNA repair enzyme) 1 (APEX1), transcript variant 2, mRNA (Q5TZP7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P27695

UniProtKB/Swiss-Prot:

APEX1_HUMAN :
  • The N-terminus contains the redox activity while the C-terminus exerts the DNA AP-endodeoxyribonuclease activity; both function are independent in their actions. An unconventional mitochondrial targeting sequence (MTS) is harbored within the C-terminus, that appears to be masked by the N-terminal sequence containing the nuclear localization signal (NLS), that probably blocks the interaction between the MTS and Tom proteins.
  • Belongs to the DNA repair enzymes AP/ExoA family.
Domain:
  • The N-terminus contains the redox activity while the C-terminus exerts the DNA AP-endodeoxyribonuclease activity; both function are independent in their actions. An unconventional mitochondrial targeting sequence (MTS) is harbored within the C-terminus, that appears to be masked by the N-terminal sequence containing the nuclear localization signal (NLS), that probably blocks the interaction between the MTS and Tom proteins.
Family:
  • Belongs to the DNA repair enzymes AP/ExoA family.
genes like me logo Genes that share domains with APEX1: view

Function for APEX1 Gene

Molecular function for APEX1 Gene

UniProtKB/Swiss-Prot Function:
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 a 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. Does also incise 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 a 3'-5' exoribonuclease activity on mismatched deoxyribonucleotides at the 3' termini of nicked or gapped DNA molecules during short-patch BER. Possesses a 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 the protection from granzymes-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.
UniProtKB/Swiss-Prot Induction:
Up-regulated in presence of reactive oxygen species (ROS), like bleomycin, H(2)O(2) and phenazine methosulfate.
UniProtKB/Swiss-Prot EnzymeRegulation:
NPM1 stimulates endodeoxyribonuclease activity on double-stranded DNA with AP sites, but inhibits endoribonuclease activity on single-stranded RNA containing AP sites.

Enzyme Numbers (IUBMB) for APEX1 Gene

Phenotypes From GWAS Catalog for APEX1 Gene

Gene Ontology (GO) - Molecular Function for APEX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA,IDA 11286553
GO:0003684 damaged DNA binding IDA 12524539
GO:0003691 double-stranded telomeric DNA binding IDA 24703901
GO:0003713 transcription coactivator activity IDA 9119221
GO:0003714 transcription corepressor activity TAS 7961715
genes like me logo Genes that share ontologies with APEX1: view
genes like me logo Genes that share phenotypes with APEX1: view

Animal Models for APEX1 Gene

MGI Knock Outs for APEX1:

miRNA for APEX1 Gene

miRTarBase miRNAs that target APEX1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APEX1

Clone products for research

  • Addgene plasmids for APEX1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for APEX1 Gene

Localization for APEX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APEX1 Gene

Nucleus. Nucleus, nucleolus. Nucleus speckle. Endoplasmic reticulum. Cytoplasm. Note=Detected in the cytoplasm of B-cells stimulated to switch (By similarity). Colocalized with SIRT1 in the nucleus. Colocalized with YBX1 in nuclear speckles after genotoxic stress. Together with OGG1 is recruited to nuclear speckles in UVA-irradiated cells. Colocalized with nucleolin and NPM1 in the nucleolus. Its nucleolar localization is cell cycle dependent and requires active rRNA transcription. Colocalized with calreticulin in the endoplasmic reticulum. Translocation from the nucleus to the cytoplasm is stimulated in presence of nitric oxide (NO) and function in a CRM1-dependent manner, possibly as a consequence of demasking a nuclear export signal (amino acid position 64-80). S-nitrosylation at Cys-93 and Cys-310 regulates its nuclear-cytosolic shuttling. Ubiquitinated form is localized predominantly in the cytoplasm. {ECO:0000250}.
[DNA-(apurinic or apyrimidinic site) endonuclease, mitochondrial]: Mitochondrion. Note=The cleaved APEX2 is only detected in mitochondria (By similarity). Translocation from the cytoplasm to the mitochondria is mediated by ROS signaling and cleavage mediated by granzyme A. Tom20-dependent translocated mitochondrial APEX1 level is significantly increased after genotoxic stress. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APEX1 gene
Compartment Confidence
cytoskeleton 5
mitochondrion 5
nucleus 5
endoplasmic reticulum 5
cytosol 3
plasma membrane 2
extracellular 2
peroxisome 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for APEX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IC 24703901
GO:0005634 nucleus IEA,IDA 9119221
GO:0005654 nucleoplasm IDA,TAS --
GO:0005667 transcription factor complex IEA --
GO:0005730 nucleolus IEA,IDA 17148573
genes like me logo Genes that share ontologies with APEX1: view

Pathways & Interactions for APEX1 Gene

genes like me logo Genes that share pathways with APEX1: view

Pathways by source for APEX1 Gene

1 GeneGo (Thomson Reuters) pathway for APEX1 Gene
  • Transcription_P53 signaling pathway
4 Qiagen pathways for APEX1 Gene
  • DNA Repair Mechanisms
  • Granzyme Pathway
  • Granzyme-A Pathway
  • HIF1Alpha Pathway
3 Cell Signaling Technology pathways for APEX1 Gene

SIGNOR curated interactions for APEX1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for APEX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000723 telomere maintenance IDA 24703901
GO:0006281 DNA repair IEA,IDA 9560228
GO:0006284 base-excision repair TAS --
GO:0006286 base-excision repair, base-free sugar-phosphate removal TAS --
GO:0006310 DNA recombination IEA --
genes like me logo Genes that share ontologies with APEX1: view

Drugs & Compounds for APEX1 Gene

(48) Drugs for APEX1 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Lucanthone Investigational Pharma Target, inhibitor 2
CRT0044876 Pharma 0
E3330 Pharma Inhibiting redox activity of APE1 protein. 0

(49) Additional Compounds for APEX1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for APEX1 Gene

Compound Action Cas Number
CRT0044876 6960-45-8
E3330 Inhibiting redox activity of APE1 protein. 136164-66-4
genes like me logo Genes that share compounds with APEX1: view

Transcripts for APEX1 Gene

mRNA/cDNA for APEX1 Gene

4 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APEX1

Clone products for research

  • Addgene plasmids for APEX1

Alternative Splicing Database (ASD) splice patterns (SP) for APEX1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g · 2h ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8 ^ 9a · 9b ·
SP1: - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - -
SP6: - - - -
SP7: - - - - - - -
SP8: - - - - - -
SP9: - - - - - - - -
SP10: - - - - - - - -
SP11: - - - - - -
SP12: - - - - -
SP13: - - - - - - -
SP14: - -
SP15: - -
SP16: - - - - -
SP17: - - - -
SP18:
SP19: -

ExUns: 9c · 9d · 9e · 9f · 9g · 9h
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:

Relevant External Links for APEX1 Gene

GeneLoc Exon Structure for
APEX1

Expression for APEX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for APEX1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for APEX1 Gene



Protein tissue co-expression partners for APEX1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for APEX1

SOURCE GeneReport for Unigene cluster for APEX1 Gene:

Hs.73722

Evidence on tissue expression from TISSUES for APEX1 Gene

  • Nervous system(5)
  • Lung(4.8)
  • Liver(4.8)
  • Skin(4.8)
  • Bone marrow(4.5)
  • Blood(4.5)
  • Intestine(4)
  • Kidney(3.4)
  • Eye(3.2)
  • Muscle(3.1)
  • Heart(2.9)
  • Lymph node(2.8)
  • Stomach(2.8)
  • Thyroid gland(2.7)
  • Spleen(2.6)
  • Adrenal gland(2.5)
  • Pancreas(2.4)
  • Gall bladder(2.3)
  • Bone(2.1)
genes like me logo Genes that share expression patterns with APEX1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for APEX1 Gene

Orthologs for APEX1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for APEX1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia APEX1 29 30
  • 99.69 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia APEX1 29 30
  • 89.31 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Apex1 29 16 30
  • 86.75 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Apex1 29
  • 86.54 (n)
Dog
(Canis familiaris)
Mammalia APEX1 29 30
  • 86.48 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia APEX1 30
  • 85 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia APEX1 30
  • 62 (a)
OneToOne
Chicken
(Gallus gallus)
Aves APEX1 29
  • 60.56 (n)
Lizard
(Anolis carolinensis)
Reptilia APEX1 30
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia apex1 29
  • 66.45 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24795 29
Zebrafish
(Danio rerio)
Actinopterygii apex1 29 30
  • 64.95 (n)
OneToOne
hmzehn1532 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009587 29
  • 57.59 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Rrp1 30
  • 22 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea exo-3 30
  • 41 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APN2 30
  • 13 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ARP 29
  • 51.76 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0801000 29
  • 50.55 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 45 (a)
OneToOne
Species where no ortholog for APEX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for APEX1 Gene

ENSEMBL:
Gene Tree for APEX1 (if available)
TreeFam:
Gene Tree for APEX1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for APEX1: view image
Alliance of Genome Resources:
Additional Orthologs for APEX1

Paralogs for APEX1 Gene

Paralogs for APEX1 Gene

genes like me logo Genes that share paralogs with APEX1: view

Variants for APEX1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for APEX1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs104894987 Not Provided: not provided 20,456,992(+) C/T
NM_001641.4(APEX1):c.441C>T (p.Gly147=)
SYNONYMOUS
rs1065749 Benign: not provided 20,457,358(+) T/C
NM_001641.4(APEX1):c.807T>C (p.Tyr269=)
SYNONYMOUS
rs140332883 Likely Benign: not provided 20,456,724(+) G/A
NM_001641.4(APEX1):c.303G>A (p.Glu101=)
SYNONYMOUS
rs1594414820 Likely Benign: not provided 20,456,847(+) T/G
NM_001641.4(APEX1):c.426T>G (p.Val142=)
SYNONYMOUS
rs1594415933 Likely Benign: not provided 20,457,337(+) T/C
NM_001641.4(APEX1):c.786T>C (p.Tyr262=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for APEX1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for APEX1 Gene

Variant ID Type Subtype PubMed ID
esv23438 CNV gain+loss 19812545

Variation tolerance for APEX1 Gene

Residual Variation Intolerance Score: 39.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.20; 87.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APEX1 Gene

Human Gene Mutation Database (HGMD)
APEX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APEX1
Leiden Open Variation Database (LOVD)
APEX1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APEX1 Gene

Disorders for APEX1 Gene

MalaCards: The human disease database

(22) MalaCards diseases for APEX1 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search APEX1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for APEX1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with APEX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APEX1 Gene

Publications for APEX1 Gene

  1. DNA repair genes in endometriosis. (PMID: 20391347) Attar R … Agachan B (Genetics and molecular research : GMR 2010) 3 22 40
  2. Low 8-oxo-7,8-dihydro-2'-deoxyguanosine levels and influence of genetic background in an Andean population exposed to high levels of arsenic. (PMID: 19896490) Engström KS … Broberg K (Mutation research 2010) 3 22 40
  3. Implications of XRCC1, XPD and APE1 gene polymorphism in North Indian population: a comparative approach in different ethnic groups worldwide. (PMID: 18946634) Gangwar R … Mittal RD (Genetica 2009) 3 22 40
  4. Identification of Apurinic/apyrimidinic endonuclease 1 (APE1) as the endoribonuclease that cleaves c-myc mRNA. (PMID: 19401441) Barnes T … Lee CH (Nucleic acids research 2009) 3 4 22
  5. A polymorphism in the APE1 gene promoter is associated with lung cancer risk. (PMID: 19124501) Lo YL … Hsiung CA (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009) 3 22 40

Products for APEX1 Gene