Free for academic non-profit institutions. Other users need a Commercial license

Aliases for APEX1 Gene

Aliases for APEX1 Gene

  • APEX Nuclease (Multifunctional DNA Repair Enzyme) 1 2 3
  • APEX 3 4 6
  • APE 3 4 6
  • Apurinic-Apyrimidinic Endonuclease 1 3 4
  • Redox Factor-1 3 4
  • EC 4.2.99.18 4 63
  • APE1 3 4
  • APEN 3 4
  • HAP1 3 4
  • REF1 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 (APEX Nuclease (Multifunctional DNA Repair Enzyme) 1) is a Protein Coding gene. Diseases associated with APEX1 include attenuated familial adenomatous polyposis and respiratory failure. Among its related pathways are Cell Cycle / Checkpoint Control and Spinal Cord Injury. GO annotations related to this gene include RNA binding and transcription corepressor 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APEX1 Gene

Genomics for APEX1 Gene

Regulatory Elements for APEX1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for APEX1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Probably binds two magnesium or manganese ions per subunit.;
    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

Proteomics data for APEX1 Gene at MOPED

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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for APEX1 (APE1)

Domains for APEX1 Gene

Graphical View of Domain Structure for InterPro Entry

P27695

UniProtKB/Swiss-Prot:

APEX1_HUMAN :
  • P27695
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 11286553
GO:0003684 damaged DNA binding IDA 12524539
GO:0003713 transcription coactivator activity IDA 9119221
GO:0003714 transcription corepressor activity TAS 7961715
GO:0003906 DNA-(apurinic or apyrimidinic site) lyase activity TAS 9119221
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

CRISPR Products

miRNA for APEX1 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for APEX1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting 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
Jensen Localization Image for APEX1 Gene COMPARTMENTS Subcellular localization image for APEX1 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 5
nucleus 5
cytoskeleton 4
cytosol 2

Gene Ontology (GO) - Cellular Components for APEX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
GO:0005730 nucleolus IDA 17148573
genes like me logo Genes that share ontologies with APEX1: view

Pathways for APEX1 Gene

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

PCR Array Products

Gene Ontology (GO) - Biological Process for APEX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle TAS --
GO:0000722 telomere maintenance via recombination TAS --
GO:0000723 telomere maintenance TAS --
GO:0000724 double-strand break repair via homologous recombination TAS --
GO:0000737 DNA catabolic process, endonucleolytic --
genes like me logo Genes that share ontologies with APEX1: view

Compounds for APEX1 Gene

(1) HMDB Compounds for APEX1 Gene

Compound Synonyms Cas Number PubMed IDs
Magnesium
  • Magnesium
7439-95-4

(1) Drugbank Compounds for APEX1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Lucanthone
  • 1-((2-(Diethylamino)ethyl)amino)-4-methylthioxanthen-9-one
479-50-5 target inhibitor

(95) Novoseek inferred chemical compound relationships for APEX1 Gene

Compound -log(P) Hits PubMed IDs
8-oxoguanine 77.5 9
methylmethanesulfonate 72.7 7
deoxyribose-5-phosphate 67.6 1
troxacitabine 67.6 1
3,n(4)-ethenocytosine 67.2 2
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for APEX1

Primer Products

Flow Cytometry Products

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 for APEX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for APEX1 Gene

SOURCE GeneReport for Unigene cluster for APEX1 Gene Hs.73722

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

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
  • 99.69 (n)
  • 99.69 (a)
APEX1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia APEX1 35
  • 89.31 (n)
  • 93.71 (a)
APEX1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia APEX1 35
  • 86.48 (n)
  • 95.28 (a)
APEX1 36
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Apex1 35
  • 86.75 (n)
  • 94.64 (a)
Apex1 16
Apex1 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia APEX1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APEX1 36
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Apex1 35
  • 86.54 (n)
  • 93.69 (a)
chicken
(Gallus gallus)
Aves APEX1 35
  • 60.56 (n)
  • 63.33 (a)
lizard
(Anolis carolinensis)
Reptilia APEX1 36
  • 69 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24795 35
tropical clawed frog
(Silurana tropicalis)
Amphibia apex1 35
  • 66.45 (n)
  • 69.45 (a)
zebrafish
(Danio rerio)
Actinopterygii apex1 35
  • 64.95 (n)
  • 68.06 (a)
apex1 36
  • 68 (a)
OneToOne
hmzehn1532 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009587 35
  • 57.59 (n)
  • 56.42 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rrp1 36
  • 22 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea exo-3 36
  • 41 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APN2 36
  • 13 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ARP 35
  • 51.76 (n)
  • 49.8 (a)
rice
(Oryza sativa)
Liliopsida Os01g0801000 35
  • 50.55 (n)
  • 46.55 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToOne
Species with no ortholog for APEX1:
  • 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 MAF
rs33956927 -- 20,457,272(-) TTCCC(C/T)GAAGC missense, reference
rs61757710 -- 20,457,250(+) TTCAC(A/G)CCACA synonymous-codon, reference
rs143046071 -- 20,457,145(+) AAGGG(C/T)CTGGC reference, synonymous-codon
rs147110862 -- 20,457,212(+) ACCTT(C/T)GCAAC reference, missense
rs148298598 -- 20,457,111(+) GCAGC(A/G)CTGGG missense, reference

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

Variant ID Type Subtype PubMed ID
esv23438 CNV Gain+Loss 19812545

Relevant External Links for APEX1 Gene

HapMap Linkage Disequilibrium report
APEX1
Human Gene Mutation Database (HGMD)
APEX1

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

Disorders for APEX1 Gene

(55) Novoseek inferred disease relationships for APEX1 Gene

Disease -log(P) Hits PubMed IDs
cystic fibrosis 65.1 52
atelectasis 39.6 5
lung diseases 34.3 8
cancer 29.3 24
tumors 12.9 39

Relevant External Links for APEX1

Genetic Association Database (GAD)
APEX1
Human Genome Epidemiology (HuGE) Navigator
APEX1
genes like me logo Genes that share disorders with APEX1: view

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

Publications for APEX1 Gene

  1. cDNA cloning, sequencing, expression and possible domain structure of human APEX nuclease homologous to Escherichia coli exonuclease III. (PMID: 1627644) Seki S. … Tsutsui K. (Biochim. Biophys. Acta 1992) 3 4 23
  2. Human apurinic endonuclease gene (APE): structure and genomic mapping (chromosome 14q11.2-12). (PMID: 1284593) Harrison L. … Demple B. (Hum. Mol. Genet. 1992) 3 4 23
  3. Redox activation of Fos-Jun DNA binding activity is mediated by a DNA repair enzyme. (PMID: 1380454) Xanthoudakis S. … Curran T. (EMBO J. 1992) 3 4 23
  4. Asparagine 212 is essential for abasic site recognition by the human DNA repair endonuclease HAP1. (PMID: 8932375) Rothwell D.G. … Hickson I.D. (Nucleic Acids Res. 1996) 3 4 23
  5. AP-1 transcriptional activity is regulated by a direct association between thioredoxin and Ref-1. (PMID: 9108029) Hirota K. … Yodoi J. (Proc. Natl. Acad. Sci. U.S.A. 1997) 3 4 23

Products for APEX1 Gene

Sources for APEX1 Gene

Back to Top

Content