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Aliases for APEX1 Gene

Aliases for APEX1 Gene

  • Apurinic/Apyrimidinic Endodeoxyribonuclease 1 2 3 5
  • APEX Nuclease (Multifunctional DNA Repair Enzyme) 1 2 3
  • Apurinic-Apyrimidinic Endonuclease 1 3 4
  • Redox Factor-1 3 4
  • EC 4.2.99.18 4 61
  • APEX 3 4
  • APE1 3 4
  • APEN 3 4
  • HAP1 3 4
  • REF1 3 4
  • APE 3 4
  • APX 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 3.1.-.- 4
  • AP Lyase 3
  • APE-1 4
  • REF-1 4

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

  • Apurinic/apyrimidinic (AP) 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 so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for APEX1 Gene

APEX1 (Apurinic/Apyrimidinic Endodeoxyribonuclease 1) is a Protein Coding gene. Diseases associated with APEX1 include Attenuated Familial Adenomatous Polyposis and Pituitary-Dependent Cushing's Disease. Among its related pathways are Spinal Cord Injury and Neuroscience. GO annotations related to this gene include poly(A) RNA binding and transcription coactivator activity. An important paralog of this gene is APEX2.

UniProtKB/Swiss-Prot for APEX1 Gene

  • Multifunctional protein that plays a central role in the cellular response to oxidative stress. The two major activities of APEX1 in 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 , fRNAdb sequence ontologies and piRNA Summary for APEX1 Gene

Genomics for APEX1 Gene

Regulatory Elements for APEX1 Gene

Enhancers for APEX1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G020341 1.1 ENCODE 27.6 -111.9 -111928 3.0 HDGF PKNOX1 FOXA2 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 APEX1 PARP2 TEP1 ENSG00000258768 TMEM55B ENSG00000258515 METTL17 RPPH1 CCNB1IP1
GH14G020453 1.2 ENCODE 23.6 +0.4 412 3.9 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF263 SP3 NFYC TBX21 OSGEP ENSG00000258515 SUPT16H TMEM55B APEX1 ENSG00000258768 TTC5 TEP1 PARP2
GH14G020612 1.4 Ensembl ENCODE 19.5 +158.6 158576 3.3 HDGF PKNOX1 FOXA2 CREB3L1 ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1 METTL3 SUPT16H ENSG00000258515 CHD8 APEX1 ENSG00000258768 OSGEP PARP2 ENSG00000260830 TTC5
GH14G020657 1.3 Ensembl ENCODE 19.6 +202.6 202597 1.1 HDGF PKNOX1 ZNF133 SIN3A GLI4 ZNF2 GTF3C2 GLIS2 FOS KLF7 METTL3 SUPT16H TEP1 TTC5 CHD8 APEX1 LINC00641 PARP2 ENSG00000260830 TMEM55B
GH14G020468 1.4 ENCODE dbSUPER 18.1 +16.6 16598 5.9 HDGF FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 PNP SUPT16H TEP1 CHD8 APEX1 TTC5 ENSG00000260830 RNASE10 RNA5SP382 CCNB1IP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around APEX1 on UCSC Golden Path with GeneCards custom track

Promoters for APEX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000066362 69 2401 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF263 SP3 NFYC TBX21

Genomic Location for APEX1 Gene

Chromosome:
14
Start:
20,455,131 bp from pter
End:
20,457,772 bp from pter
Size:
2,642 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) lyase
    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; 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

  • 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).
  • 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.
  • Ubiquitinated by MDM2; leading to translocation to the cytoplasm and proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for APEX1 Gene

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

No data available for Gene Families for APEX1 Gene

Function for APEX1 Gene

Molecular function for APEX1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
The C-O-P bond 3 to the apurinic or apyrimidinic site in DNA is broken by a beta-elimination reaction, leaving a 3-terminal unsaturated sugar and a product with a terminal 5-phosphate.
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.
UniProtKB/Swiss-Prot Function:
Multifunctional protein that plays a central role in the cellular response to oxidative stress. The two major activities of APEX1 in 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.

Enzyme Numbers (IUBMB) for APEX1 Gene

Gene Ontology (GO) - Molecular Function for APEX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA,IEA 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:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

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) lyase, 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
peroxisome 2
extracellular 1

Gene Ontology (GO) - Cellular Components for APEX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region IC 24703901
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA,IDA 9119221
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
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

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 IDA,IEA 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

No data available for SIGNOR curated interactions for APEX1 Gene

Drugs & Compounds for APEX1 Gene

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

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

(50) 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

Unigene Clusters for APEX1 Gene

APEX nuclease (multifunctional DNA repair enzyme) 1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
APEX1

Expression for APEX1 Gene

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

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



Protein tissue co-expression partners for APEX1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of APEX1 Gene:

APEX1

SOURCE GeneReport for Unigene cluster for APEX1 Gene:

Hs.73722

Evidence on tissue expression from TISSUES for APEX1 Gene

  • Nervous system(5)
  • Liver(4.8)
  • Lung(4.8)
  • Skin(4.8)
  • Blood(4.5)
  • Bone marrow(4.4)
  • Intestine(3.8)
  • Heart(3.2)
  • Eye(2.9)
  • Muscle(2.9)
  • Kidney(2.5)
  • Adrenal gland(2.4)
  • Thyroid gland(2.2)
  • Stomach(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 35 34
  • 99.69 (n)
OneToOne
cow
(Bos Taurus)
Mammalia APEX1 34 35
  • 89.31 (n)
mouse
(Mus musculus)
Mammalia Apex1 35 16 34
  • 86.75 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Apex1 34
  • 86.54 (n)
dog
(Canis familiaris)
Mammalia APEX1 34 35
  • 86.48 (n)
oppossum
(Monodelphis domestica)
Mammalia APEX1 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APEX1 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves APEX1 34
  • 60.56 (n)
lizard
(Anolis carolinensis)
Reptilia APEX1 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia apex1 34
  • 66.45 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24795 34
zebrafish
(Danio rerio)
Actinopterygii apex1 34 35
  • 64.95 (n)
hmzehn1532 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009587 34
  • 57.59 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rrp1 35
  • 22 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea exo-3 35
  • 41 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APN2 35
  • 13 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ARP 34
  • 51.76 (n)
rice
(Oryza sativa)
Liliopsida Os01g0801000 34
  • 50.55 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToOne
Species where no ortholog for APEX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

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 from dbSNP and Humsavar for APEX1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs104894986 untested 20,455,137(+) AGACA(A/G)ACCAA upstream-variant-2KB, utr-variant-5-prime
rs104894987 untested 20,456,992(+) ATAGG(C/T)GATGA upstream-variant-2KB, reference, synonymous-codon
rs1000814795 -- 20,454,049(+) AAAGA(A/C)CAAAT intron-variant, upstream-variant-2KB
rs1001209361 -- 20,454,012(+) GACTC(-/T)TGTCT intron-variant, upstream-variant-2KB
rs1001360753 -- 20,455,058(+) CGAGG(A/G)AGGGT upstream-variant-2KB, utr-variant-5-prime

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)

Relevant External Links for APEX1 Gene

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

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

Disorders for APEX1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for APEX1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
attenuated familial adenomatous polyposis
  • aapc
pituitary-dependent cushing's disease
  • overproduction of acth
intraocular retinoblastoma
  • pediatric intraocular retinoblastoma
bardet-biedl syndrome 19
  • bbs19
pediatric ependymoma
  • childhood ependymoma
- elite association - COSMIC cancer census association via MalaCards
Search APEX1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for APEX1

Genetic Association Database (GAD)
APEX1
Human Genome Epidemiology (HuGE) Navigator
APEX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
APEX1
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. 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) EngstrAPm K.S. … Broberg K. (Mutat. Res. 2010) 3 22 46 64
  2. A polymorphism in the APE1 gene promoter is associated with lung cancer risk. (PMID: 19124501) Lo Y.L. … Hsiung C.A. (Cancer Epidemiol. Biomarkers Prev. 2009) 3 22 46 64
  3. Identification of apurinic/apyrimidinic endonuclease 1 (APE1) as the endoribonuclease that cleaves c-myc mRNA. (PMID: 19401441) Barnes T. … Lee C.H. (Nucleic Acids Res. 2009) 3 4 22 64
  4. Association between genetic polymorphisms of DNA base excision repair genes and evolution of precancerous gastric lesions in a Chinese population. (PMID: 19147860) Li W.Q. … You W.C. (Carcinogenesis 2009) 3 22 46 64
  5. Granzyme K degrades the redox/DNA repair enzyme Ape1 to trigger oxidative stress of target cells leading to cytotoxicity. (PMID: 18179823) Guo Y. … Fan Z. (Mol. Immunol. 2008) 3 4 22 64

Products for APEX1 Gene

  • Addgene plasmids for APEX1

Sources for APEX1 Gene

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