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    APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 [ Homo sapiens (human) ]

    Gene ID: 328, updated on 10-Dec-2017
    Official Symbol
    APEX1provided by HGNC
    Official Full Name
    apurinic/apyrimidinic endodeoxyribonuclease 1provided by HGNC
    Primary source
    HGNC:HGNC:587
    See related
    Ensembl:ENSG00000100823 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]
    Expression
    Ubiquitous expression in ovary (RPKM 68.7), endometrium (RPKM 60.6) and 25 other tissues See more
    Orthologs
    Location:
    14q11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (20455131..20457772)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (20923290..20925931)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene solute carrier family 12 member 3 pseudogene Neighboring gene O-sialoglycoprotein endopeptidase Neighboring gene phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 Neighboring gene purine nucleoside phosphorylase

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Replication interactions

    Interaction Pubs
    SiRNA-mediated knockdown of one of the components of the SET complex, APE1, inhibits HIV-1 infection with significantly reduced levels of integrated HIV-1 DNA and viral production in HeLa-CD4 cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Rev 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 Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA-DNA hybrid ribonuclease activity TAS
    Traceable Author Statement
    more info
    PubMed 
    chromatin DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    class I DNA-(apurinic or apyrimidinic site) lyase activity IEA
    Inferred from Electronic Annotation
    more info
     
    class III/IV DNA-(apurinic or apyrimidinic site) lyase activity IEA
    Inferred from Electronic Annotation
    more info
     
    damaged DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    double-stranded DNA 3'-5' exodeoxyribonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    double-stranded DNA exodeoxyribonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    double-stranded telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endodeoxyribonuclease activity TAS
    Traceable Author Statement
    more info
     
    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
     
    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
    PubMed 
    DNA recombination IEA
    Inferred from Electronic Annotation
    more info
     
    DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA phosphodiester bond hydrolysis, endonucleolytic IEA
    Inferred from Electronic Annotation
    more info
     
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    base-excision repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    base-excision repair TAS
    Traceable Author Statement
    more info
     
    base-excision repair, base-free sugar-phosphate removal 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 nucleic acid-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of smooth muscle cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of G1/S transition of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of mRNA stability IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    telomere maintenance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telomere maintenance via base-excision repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription, DNA-templated 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
    PubMed 
    nuclear chromosome, telomeric region IC
    Inferred by Curator
    more info
    PubMed 
    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
    PubMed 
    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
    AP endonuclease class I
    AP lyase
    APEX nuclease (multifunctional DNA repair enzyme) 1
    apurinic-apyrimidinic endonuclease 1
    apurinic/apyrimidinic (abasic) endonuclease
    deoxyribonuclease (apurinic or apyrimidinic)
    protein REF-1
    redox factor-1
    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

      See identical proteins and their annotated locations for NP_001231178.1

      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
      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

      See identical proteins and their annotated locations for NP_001632.2

      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
      ENSP00000216714.3, OTTHUMP00000163989, ENST00000216714.7, OTTHUMT00000073641
      Conserved Domains (1) summary
      cd09087
      Location:62316
      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

      See identical proteins and their annotated locations for NP_542379.1

      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
      ENSP00000381111.4, OTTHUMP00000244793, ENST00000398030.8, OTTHUMT00000411060
      Conserved Domains (1) summary
      cd09087
      Location:62316
      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

      See identical proteins and their annotated locations for NP_542380.1

      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
      ENSP00000451979.1, OTTHUMP00000163988, ENST00000555414.5, OTTHUMT00000073640
      Conserved Domains (1) summary
      cd09087
      Location:62316
      Ape1-like_AP-endo; Human Ape1-like subfamily of the ExoIII family purinic/apyrimidinic (AP) endonucleases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      20455131..20457772
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      20924670..20927311
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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