Homo sapiens Gene: APEX1
Summary
InnateDB Gene IDBG-2246.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol APEX1
Gene Name APEX nuclease (multifunctional DNA repair enzyme) 1
Synonyms APE; APE1; APEN; APEX; APX; HAP1; REF1
Species Homo sapiens
Ensembl Gene ENSG00000100823
Encoded Proteins
APEX nuclease (multifunctional DNA repair enzyme) 1
APEX nuclease (multifunctional DNA repair enzyme) 1
APEX nuclease (multifunctional DNA repair enzyme) 1
APEX nuclease (multifunctional DNA repair enzyme) 1
APEX nuclease (multifunctional DNA repair enzyme) 1
APEX nuclease (multifunctional DNA repair enzyme) 1
APEX nuclease (multifunctional DNA repair enzyme) 1
APEX nuclease (multifunctional DNA repair enzyme) 1
APEX nuclease (multifunctional DNA repair enzyme) 1
APEX nuclease (multifunctional DNA repair enzyme) 1
APEX nuclease (multifunctional DNA repair enzyme) 1
APEX nuclease (multifunctional DNA repair enzyme) 1
APEX nuclease (multifunctional DNA repair enzyme) 1
APEX nuclease (multifunctional DNA repair enzyme) 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:20455191-20457772
Strand Forward strand
Band q11.2
Transcripts
ENST00000216714 ENSP00000216714
ENST00000398030 ENSP00000381111
ENST00000438886 ENSP00000416414
ENST00000555414 ENSP00000451979
ENST00000553681 ENSP00000451327
ENST00000554813
ENST00000556296
ENST00000557344 ENSP00000452137
ENST00000555306
ENST00000553555
ENST00000554325 ENSP00000450604
ENST00000557181 ENSP00000452304
ENST00000555839 ENSP00000452460
ENST00000557159
ENST00000553368 ENSP00000451491
ENST00000556054 ENSP00000451170
ENST00000557054 ENSP00000452212
ENST00000557592 ENSP00000451060
ENST00000557365
ENST00000557150 ENSP00000452418
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 88 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 88 [view]
Protein-Protein 83 [view]
Protein-DNA 5 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003684 damaged DNA binding
GO:0003713 transcription coactivator activity
GO:0003714 transcription corepressor activity
GO:0003906 DNA-(apurinic or apyrimidinic site) lyase activity
GO:0004518 nuclease activity
GO:0004519 endonuclease activity
GO:0004520 endodeoxyribonuclease activity
GO:0004521 endoribonuclease activity
GO:0004523 RNA-DNA hybrid ribonuclease activity
GO:0004528 phosphodiesterase I activity
GO:0004844 uracil DNA N-glycosylase activity
GO:0005515 protein binding
GO:0008081 phosphoric diester hydrolase activity
GO:0008311 double-stranded DNA 3'-5' exodeoxyribonuclease activity
GO:0008408 3'-5' exonuclease activity
GO:0016491 oxidoreductase activity
GO:0016890 site-specific endodeoxyribonuclease activity, specific for altered base
GO:0031490 chromatin DNA binding
GO:0032403 protein complex binding
GO:0044822 poly(A) RNA binding
GO:0046872 metal ion binding
GO:0051059 NF-kappaB binding
Biological Process
GO:0000737 DNA catabolic process, endonucleolytic
GO:0000738 DNA catabolic process, exonucleolytic
GO:0006281 DNA repair
GO:0006284 base-excision repair
GO:0006310 DNA recombination
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007568 aging
GO:0010243 response to organonitrogen compound
GO:0014912 negative regulation of smooth muscle cell migration
GO:0042493 response to drug
GO:0043488 regulation of mRNA stability
GO:0045454 cell redox homeostasis
GO:0045739 positive regulation of DNA repair
GO:0055114 oxidation-reduction process
GO:0070301 cellular response to hydrogen peroxide
GO:0071320 cellular response to cAMP
GO:0071375 cellular response to peptide hormone stimulus
GO:0071417 cellular response to organonitrogen compound
GO:0080111 DNA demethylation
GO:0090305 nucleic acid phosphodiester bond hydrolysis
GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic
GO:1900087 positive regulation of G1/S transition of mitotic cell cycle
Cellular Component
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0005813 centrosome
GO:0005840 ribosome
GO:0016607 nuclear speck
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
TSH pathway
REACTOME
Processive synthesis on the C-strand of the telomere pathway
Telomere C-strand (Lagging Strand) Synthesis pathway
Processive synthesis on the lagging strand pathway
Gap-filling DNA repair synthesis and ligation in TC-NER pathway
Transcription-coupled NER (TC-NER) pathway
Gap-filling DNA repair synthesis and ligation in GG-NER pathway
Resolution of D-loop structures through Holliday junction intermediates pathway
Displacement of DNA glycosylase by APE1 pathway
Base-free sugar-phosphate removal via the single-nucleotide replacement pathway pathway
Resolution of AP sites via the single-nucleotide replacement pathway pathway
Removal of DNA patch containing abasic residue pathway
Resolution of AP sites via the multiple-nucleotide patch replacement pathway pathway
DNA Replication pathway
Synthesis of DNA pathway
Homologous Recombination Repair pathway
Resolution of Abasic Sites (AP sites) pathway
S Phase pathway
Chromosome Maintenance pathway
Global Genomic NER (GG-NER) pathway
Telomere Maintenance pathway
Double-Strand Break Repair pathway
Cell Cycle pathway
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) pathway
Resolution of D-loop structures pathway
Base Excision Repair pathway
Homologous recombination repair of replication-independent double-strand breaks pathway
Cell Cycle, Mitotic pathway
DNA strand elongation pathway
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) pathway
Mismatch Repair pathway
Extension of Telomeres pathway
Lagging Strand Synthesis pathway
Nucleotide Excision Repair pathway
DNA Repair pathway
KEGG
Base excision repair pathway
INOH
PID NCI
HIF-2-alpha transcription factor network
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.73722
RefSeq NM_001244249 NM_001641 NM_080648 NM_080649
HUGO
OMIM
CCDS CCDS9550
HPRD 00136
IMGT
EMBL
GenPept
RNA Seq Atlas