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

Gene ID: 328, updated on 26-Aug-2014
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]
See APEX1 in Epigenomics, MapViewer
Location:
14q11.2
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 (sodium/chloride transporter), member 3 pseudogene Neighboring gene O-sialoglycoprotein endopeptidase Neighboring gene transmembrane protein 55B Neighboring gene purine nucleoside phosphorylase

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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 Protein 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-DNA hybrid ribonuclease activity TAS
Traceable Author Statement
more info
PubMed 
chromatin DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
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
 
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 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
 
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 catabolic process, endonucleolytic IDA
Inferred from Direct Assay
more info
PubMed 
DNA catabolic process, endonucleolytic IEA
Inferred from Electronic Annotation
more info
 
DNA catabolic process, endonucleolytic TAS
Traceable Author Statement
more info
PubMed 
DNA catabolic process, exonucleolytic IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
RNA phosphodiester bond hydrolysis, endonucleolytic IEA
Inferred from Electronic Annotation
more info
 
RNA phosphodiester bond hydrolysis, endonucleolytic TAS
Traceable Author Statement
more info
PubMed 
aging IEA
Inferred from Electronic Annotation
more info
 
base-excision repair IBA
Inferred from Biological aspect of Ancestor
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
 
nucleic acid phosphodiester bond hydrolysis IDA
Inferred from Direct Assay
more info
PubMed 
nucleic acid phosphodiester bond hydrolysis TAS
Traceable Author Statement
more info
PubMed 
oxidation-reduction process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of DNA repair IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of G1/S transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
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
 
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
 
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 

    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 proteins identical to 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
    Blast Score: 1173
    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 proteins identical to 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, OTTHUMP00000163989, ENST00000216714, OTTHUMT00000073641
    Conserved Domains (1) summary
    cd09087
    Location:62316
    Blast Score: 1173
    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 proteins identical to 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, OTTHUMP00000244793, ENST00000398030, OTTHUMT00000411060
    Conserved Domains (1) summary
    cd09087
    Location:62316
    Blast Score: 1173
    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 proteins identical to 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, OTTHUMP00000163988, ENST00000555414, OTTHUMT00000073640
    Conserved Domains (1) summary
    cd09087
    Location:62316
    Blast Score: 1173
    Ape1-like_AP-endo; Human Ape1-like subfamily of the ExoIII family purinic/apyrimidinic (AP) endonucleases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000014.9 

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

mRNA and Protein(s)

  1. XM_005267582.2XP_005267639.1  

    Conserved Domains (1) summary
    cd09087
    Location:45299
    Blast Score: 1173
    Ape1-like_AP-endo; Human Ape1-like subfamily of the ExoIII family purinic/apyrimidinic (AP) endonucleases
  2. XM_005267581.2XP_005267638.1  

    See proteins identical to XP_005267638.1

    UniProtKB/Swiss-Prot
    P27695
    UniProtKB/TrEMBL
    Q5TZP7
    Conserved Domains (1) summary
    cd09087
    Location:62316
    Blast Score: 1173
    Ape1-like_AP-endo; Human Ape1-like subfamily of the ExoIII family purinic/apyrimidinic (AP) endonucleases

Alternate HuRef

Genomic

  1. AC_000146.1 

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

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 

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