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    APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1 [ Homo sapiens (human) ]

    Gene ID: 328, updated on 14-May-2013
    Official Symbol
    APEX1provided by HGNC
    Official Full Name
    APEX nuclease (multifunctional DNA repair enzyme) 1provided by HGNC
    Primary source
    HGNC:587
    See related
    Ensembl:ENSG00000100823; HPRD:00136; MIM:107748; Vega:OTTHUMG00000029544
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    APE; APX; APE1; APEN; APEX; HAP1; REF1
    Summary
    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]
    Location :
    14q11.2
    Sequence :
    Chromosome: 14; NC_000014.8 (20923290..20925931)
    See APEX1 in Epigenomics, MapViewer

    Chromosome 14 - NC_000014.8Genomic Context describing neighboring genes Neighboring gene solute carrier family 12 (sodium/chloride transporters), member 3 pseudogene Neighboring gene O-sialoglycoprotein endopeptidase Neighboring gene transmembrane protein 55B Neighboring gene purine nucleoside phosphorylase

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Protein Gene Interaction Pubs
    Rev, p19 rev HIV-1 Rev interacting protein, APEX nuclease 1 (APEX1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with APEX1 is increased by RRE PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description
    NP_001632.2 NC_000006.9 CDKN1A    BIND  PubMed Ref1 interacts weakly with p21 promoter. 
    NP_001632.2 AAH03178.1 MUTYH    BIND  PubMed hMYH is associated in vivo with apurinic/apyrimidinic endonuclease (APE1) 
    NP_001632.2 NP_000537.2 TP53    BIND  PubMed p53 interacts with Ref-1. 
    P27695 P39687 ANP32A    HPRD  PubMed  
    P27695 O43423 ANP32C    HPRD  PubMed  
    P27695 P27695 APEX1    HPRD  PubMed  
    P27695 P68400 CSNK2A1    HPRD  PubMed  
    P27695 Q14203 DCTN1    HPRD  PubMed  
    P27695 Q09472 EP300    HPRD  PubMed  
    P27695 P39748 FEN1    HPRD  PubMed  
    P27695 P12544 GZMA    HPRD  PubMed  
    P27695 Q13547 HDAC1    HPRD  PubMed  
    P27695 Q16665 HIF1A    HPRD  PubMed  
    P27695 P26583 HMGB2    HPRD  PubMed  
    P27695 P14866 HNRNPL    HPRD  PubMed  
    P27695 Heat shock 70 KD protein 1A HSPA1A    HPRD  PubMed  
    P27695 Q9UIF7 MUTYH    HPRD  PubMed  
    P27695 P15531 NME1    HPRD  PubMed  
    P27695 Q9GZY0 NXF2    HPRD  PubMed  
    P27695 P12004 PCNA    HPRD  PubMed  
    P27695 P06746 POLB    HPRD  PubMed  
    P27695 Q01105 SET    HPRD  PubMed  
    P27695 P04637 TP53    HPRD  PubMed  
    P27695 P10599 TXN    HPRD  PubMed  
    P27695 P63279 UBE2I    HPRD  PubMed  
    P27695 P18887 XRCC1    HPRD  PubMed  
    P27695 P12956 XRCC6    HPRD  PubMed  
    BioGRID:106825 BioGRID:113791 ANP32A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106825 BioGRID:106848 APP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106825 BioGRID:115694 ARIH2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106825 BioGRID:106922 ASCL2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106825 BioGRID:107276 CAPNS1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106825 BioGRID:125411 CCDC124    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106825 BioGRID:108347 EP300    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106825 BioGRID:108403 ESR1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106825 BioGRID:108528 FEN1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106825 BioGRID:1777030 HHV8GK18_gp81    BioGRID  PubMed Far Western 
    BioGRID:106825 BioGRID:109338 HIF1A    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106825 BioGRID:109431 HNRNPK    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106825 BioGRID:109432 HNRNPL    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106825 BioGRID:116281 HNRNPUL1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106825 BioGRID:109469 HOXC13    BioGRID  PubMed Two-hybrid 
    BioGRID:106825 BioGRID:110054 KRT8    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106825 BioGRID:110147 LGALS1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106825 BioGRID:110358 MDM2    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:106825 BioGRID:110681 MUTYH    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106825 BioGRID:114402 NAE1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106825 BioGRID:110929 NPM1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106825 BioGRID:116336 NUDT3    BioGRID  PubMed Two-hybrid 
    BioGRID:106825 BioGRID:117939 PABPC1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106825 BioGRID:114521 PAPSS2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106825 BioGRID:111142 PCNA    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106825 BioGRID:107129 POLR3D    BioGRID  PubMed Two-hybrid 
    BioGRID:106825 BioGRID:114956 PRDX6    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106825 BioGRID:118151 PRPF19    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:106825 BioGRID:114179 PSMG1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106825 BioGRID:121946 RIC8A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106825 BioGRID:111974 RNF4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106825 BioGRID:110115 RPSA    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106825 BioGRID:112316 SET    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106825 BioGRID:112319 SFPQ    BioGRID  PubMed Co-fractionation 
    BioGRID:106825 BioGRID:112516 SNRPD1    BioGRID  PubMed Co-fractionation 
    BioGRID:106825 BioGRID:112651 STAT3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106825 BioGRID:113188 SUMO1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106825 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106825 BioGRID:112783 TCEB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106825 BioGRID:112803 TCF21    BioGRID  PubMed Two-hybrid 
    BioGRID:106825 BioGRID:112810 TCP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106825 BioGRID:112872 TERF1    BioGRID  PubMed Two-hybrid 
    BioGRID:106825 BioGRID:112873 TERF2    BioGRID  PubMed Two-hybrid 
    BioGRID:106825 BioGRID:119942 TERF2IP    BioGRID  PubMed Two-hybrid 
    BioGRID:106825 BioGRID:112881 TFAP4    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:106825 BioGRID:113010 TP53    BioGRID  PubMed Affinity Capture-Western; Co-purification 
    BioGRID:106825 BioGRID:113038 TRAF2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106825 BioGRID:116472 TWF2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106825 BioGRID:113146 TXN    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106825 BioGRID:113147 TXNRD1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:106825 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:106825 BioGRID:113177 UBE2I    BioGRID  PubMed Two-hybrid 
    BioGRID:106825 BioGRID:122532 WDR77    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:106825 BioGRID:116420 XPOT    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106825 BioGRID:113349 XRCC1    BioGRID  PubMed Far Western; Two-hybrid 
    BioGRID:106825 BioGRID:113353 XRCC5    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106825 BioGRID:110959 YBX1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106825 BioGRID:1205542 rev    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3'-5' exonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    3'-5' exonuclease activity TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA-(apurinic or apyrimidinic site) lyase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA-(apurinic or apyrimidinic site) lyase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    NF-kappaB binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    damaged DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endodeoxyribonuclease activity TAS
    Traceable Author Statement
    more info
    PubMed 
    endonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidoreductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphodiesterase I activity TAS
    Traceable Author Statement
    more info
    PubMed 
    phosphoric diester hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    ribonuclease H activity TAS
    Traceable Author Statement
    more info
    PubMed 
    site-specific endodeoxyribonuclease activity, specific for altered base IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription corepressor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    uracil DNA N-glycosylase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA demethylation IDA
    Inferred from Direct Assay
    more info
     
    DNA recombination IEA
    Inferred from Electronic Annotation
    more info
     
    DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA repair TAS
    Traceable Author Statement
    more info
     
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    base-excision repair TAS
    Traceable Author Statement
    more info
     
    cell redox homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to cAMP IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to hydrogen peroxide IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to peptide hormone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of smooth muscle cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of mRNA stability IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    centrosome IDA
    Inferred from Direct Assay
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    nuclear speck IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ribosome TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription factor complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    DNA-(apurinic or apyrimidinic site) lyase
    Names
    DNA-(apurinic or apyrimidinic site) lyase
    AP lyase
    protein REF-1
    redox factor-1
    AP endonuclease class I
    apurinic-apyrimidinic endonuclease 1
    apurinic/apyrimidinic (abasic) endonuclease
    deoxyribonuclease (apurinic or apyrimidinic)
    NP_001231178.1
    NP_001632.2
    NP_542379.1
    NP_542380.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008718.1 RefSeqGene

      Range
      5001..7642
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001244249.1NP_001231178.1  DNA-(apurinic or apyrimidinic site) lyase

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses a donor splice site for exon 1 downstream of that used by variant 3.
      Source sequence(s)
      AI554786, AK291100, AL355075, CB139337
      Consensus CDS
      CCDS9550.1
      UniProtKB/Swiss-Prot
      P27695
      UniProtKB/TrEMBL
      Q5TZP7
      Conserved Domains (1) summary
      cd09087
      Location:62316
      Blast Score: 1163
      Ape1-like_AP-endo; Human Ape1-like subfamily of the ExoIII family purinic/apyrimidinic (AP) endonucleases
    2. NM_001641.3NP_001632.2  DNA-(apurinic or apyrimidinic site) lyase

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) contains the full-length first exon and is the longest transcript.
      Source sequence(s)
      AI554786, AK291100, AL355075
      Consensus CDS
      CCDS9550.1
      UniProtKB/Swiss-Prot
      P27695
      UniProtKB/TrEMBL
      Q5TZP7
      Related
      ENSP00000216714, OTTHUMP00000163989, ENST00000216714, OTTHUMT00000073641
      Conserved Domains (1) summary
      cd09087
      Location:62316
      Blast Score: 1163
      Ape1-like_AP-endo; Human Ape1-like subfamily of the ExoIII family purinic/apyrimidinic (AP) endonucleases
    3. NM_080648.2NP_542379.1  DNA-(apurinic or apyrimidinic site) lyase

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses a different donor splice site for exon 1 when compared to variant 1.
      Source sequence(s)
      AI554786, AL355075, BC004979
      Consensus CDS
      CCDS9550.1
      UniProtKB/Swiss-Prot
      P27695
      UniProtKB/TrEMBL
      Q5TZP7
      Related
      ENSP00000381111, OTTHUMP00000244793, ENST00000398030, OTTHUMT00000411060
      Conserved Domains (1) summary
      cd09087
      Location:62316
      Blast Score: 1163
      Ape1-like_AP-endo; Human Ape1-like subfamily of the ExoIII family purinic/apyrimidinic (AP) endonucleases
    4. NM_080649.2NP_542380.1  DNA-(apurinic or apyrimidinic site) lyase

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses a donor splice site for exon 1 downstream of that used by variant 2.
      Source sequence(s)
      AI554786, AL355075, BC095428
      Consensus CDS
      CCDS9550.1
      UniProtKB/Swiss-Prot
      P27695
      UniProtKB/TrEMBL
      Q5TZP7
      Related
      ENSP00000451979, OTTHUMP00000163988, ENST00000555414, OTTHUMT00000073640
      Conserved Domains (1) summary
      cd09087
      Location:62316
      Blast Score: 1163
      Ape1-like_AP-endo; Human Ape1-like subfamily of the ExoIII family purinic/apyrimidinic (AP) endonucleases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000014.8 Reference GRCh37.p10 Primary Assembly

      Range
      20923290..20925931
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000146.1 Alternate HuRef

      Range
      1044909..1047550
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018925.1 Alternate CHM1_1.0

      Range
      1922395..1925036
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

      Supplemental Content

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