ENSG00000100823


Homo sapiens

Features
Gene ID: ENSG00000100823
  
Biological name :APEX1
  
Synonyms : APEX1 / apurinic/apyrimidinic endodeoxyribonuclease 1 / P27695
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: 1
Band: q11.2
Gene start: 20455191
Gene end: 20457772
  
Corresponding Affymetrix probe sets: 210027_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000451327
Ensembl peptide - ENSP00000451491
Ensembl peptide - ENSP00000451979
Ensembl peptide - ENSP00000452212
Ensembl peptide - ENSP00000452304
Ensembl peptide - ENSP00000452418
Ensembl peptide - ENSP00000452460
Ensembl peptide - ENSP00000216714
Ensembl peptide - ENSP00000381111
Ensembl peptide - ENSP00000416414
Ensembl peptide - ENSP00000450604
Ensembl peptide - ENSP00000451060
Ensembl peptide - ENSP00000451170
Ensembl peptide - ENSP00000452137
NCBI entrez gene - 328     See in Manteia.
OMIM - 107748
RefSeq - NM_080648
RefSeq - NM_080649
RefSeq - NM_001244249
RefSeq - NM_001641
RefSeq Peptide - NP_542379
RefSeq Peptide - NP_542380
RefSeq Peptide - NP_001632
RefSeq Peptide - NP_001231178
swissprot - Q5TZP7
swissprot - A0A0C4DGK8
swissprot - G3V2D9
swissprot - G3V359
swissprot - G3V3C7
swissprot - G3V3M6
swissprot - G3V3Y6
swissprot - G3V574
swissprot - G3V5D9
swissprot - G3V5M0
swissprot - G3V5Q1
swissprot - H7C4A8
swissprot - P27695
Ensembl - ENSG00000100823
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 apex1ENSDARG00000045843Danio rerio
 Apex1ENSMUSG00000035960Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
APEX2 / Q9UBZ4 / apurinic/apyrimidinic endodeoxyribonuclease 2ENSG0000016918825


Protein motifs (from Interpro)
Interpro ID Name
 IPR004808  AP endonuclease 1
 IPR005135  Endonuclease/exonuclease/phosphatase
 IPR020847  AP endonuclease 1, binding site
 IPR020848  AP endonuclease 1, conserved site
 IPR036691  Endonuclease/exonuclease/phosphatase superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000723 telomere maintenance IDA
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006284 base-excision repair TAS
 biological_processGO:0006286 base-excision repair, base-free sugar-phosphate removal TAS
 biological_processGO:0006310 DNA recombination IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0007568 aging IEA
 biological_processGO:0010243 response to organonitrogen compound IEA
 biological_processGO:0014912 negative regulation of smooth muscle cell migration IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0042981 regulation of apoptotic process IDA
 biological_processGO:0043488 regulation of mRNA stability IMP
 biological_processGO:0045454 cell redox homeostasis IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0070301 cellular response to hydrogen peroxide IEA
 biological_processGO:0071320 cellular response to cAMP IEA
 biological_processGO:0071375 cellular response to peptide hormone stimulus IEA
 biological_processGO:0071417 cellular response to organonitrogen compound IEA
 biological_processGO:0080111 DNA demethylation IDA
 biological_processGO:0090305 nucleic acid phosphodiester bond hydrolysis IEA
 biological_processGO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic IEA
 biological_processGO:0097698 telomere maintenance via base-excision repair IDA
 biological_processGO:1900087 positive regulation of G1/S transition of mitotic cell cycle IEA
 biological_processGO:1903507 negative regulation of nucleic acid-templated transcription IEA
 cellular_componentGO:0000784 nuclear chromosome, telomeric region IC
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005667 transcription factor complex IEA
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005783 endoplasmic reticulum TAS
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005840 ribosome TAS
 cellular_componentGO:0016607 nuclear speck IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003684 damaged DNA binding IDA
 molecular_functionGO:0003691 double-stranded telomeric DNA binding IDA
 molecular_functionGO:0003713 transcription coactivator activity IDA
 molecular_functionGO:0003714 transcription corepressor activity TAS
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0003906 DNA-(apurinic or apyrimidinic site) endonuclease activity IEA
 molecular_functionGO:0004518 nuclease activity IEA
 molecular_functionGO:0004519 endonuclease activity IEA
 molecular_functionGO:0004520 endodeoxyribonuclease activity TAS
 molecular_functionGO:0004521 endoribonuclease activity IEA
 molecular_functionGO:0004523 RNA-DNA hybrid ribonuclease activity TAS
 molecular_functionGO:0004527 exonuclease activity IEA
 molecular_functionGO:0004528 phosphodiesterase I activity TAS
 molecular_functionGO:0004844 uracil DNA N-glycosylase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008081 phosphoric diester hydrolase activity IDA
 molecular_functionGO:0008309 double-stranded DNA exodeoxyribonuclease activity IDA
 molecular_functionGO:0008311 double-stranded DNA 3"-5" exodeoxyribonuclease activity IBA
 molecular_functionGO:0008408 3"-5" exonuclease activity TAS
 molecular_functionGO:0016491 oxidoreductase activity IDA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016829 lyase activity IEA
 molecular_functionGO:0016890 site-specific endodeoxyribonuclease activity, specific for altered base IDA
 molecular_functionGO:0031490 chromatin DNA binding IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051059 NF-kappaB binding IEA
 molecular_functionGO:0140078 class I DNA-(apurinic or apyrimidinic site) endonuclease activity IEA
 molecular_functionGO:0140080 class III/IV DNA-(apurinic or apyrimidinic site) endonuclease activity IEA


Pathways (from Reactome)
Pathway description
Displacement of DNA glycosylase by APEX1
POLB-Dependent Long Patch Base Excision Repair
Resolution of AP sites via the multiple-nucleotide patch replacement pathway
PCNA-Dependent Long Patch Base Excision Repair
Abasic sugar-phosphate removal via the single-nucleotide replacement pathway
Resolution of Abasic Sites (AP sites)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000106399 RPA3 / P35244 / replication protein A3  / reaction / complex
 ENSG00000106628 POLD2 / P49005 / DNA polymerase delta 2, accessory subunit  / reaction / complex
 ENSG00000065057 NTHL1 / P78549 / nth like DNA glycosylase 1  / reaction
 ENSG00000103152 MPG / P29372 / N-methylpurine DNA glycosylase  / reaction
 ENSG00000129071 MBD4 / O95243 / methyl-CpG binding domain 4, DNA glycosylase  / reaction
 ENSG00000123415 SMUG1 / Q53HV7 / single-strand-selective monofunctional uracil-DNA glycosylase 1  / reaction
 ENSG00000076248 UNG / P13051 / uracil DNA glycosylase  / reaction
 ENSG00000139372 TDG / Q13569 / thymine DNA glycosylase  / reaction
 ENSG00000077514 POLD3 / Q15054 / DNA polymerase delta 3, accessory subunit  / complex / reaction
 ENSG00000132383 RPA1 / P27694 / replication protein A1  / complex / reaction
 ENSG00000105486 LIG1 / P18858 / DNA ligase 1  / complex / reaction
 ENSG00000070501 POLB / P06746 / DNA polymerase beta  / complex / reaction
 ENSG00000114026 OGG1 / O15527 / 8-oxoguanine DNA glycosylase  / reaction
 ENSG00000175482 POLD4 / Q9HCU8 / DNA polymerase delta 4, accessory subunit  / complex / reaction
 ENSG00000117748 RPA2 / P15927 / replication protein A2  / complex / reaction
 ENSG00000168496 FEN1 / P39748 / flap structure-specific endonuclease 1  / complex / reaction
 ENSG00000132781 MUTYH / Q9UIF7 / mutY DNA glycosylase  / reaction
 ENSG00000132646 PCNA / P12004 / proliferating cell nuclear antigen  / complex / reaction
 ENSG00000062822 POLD1 / P28340 / DNA polymerase delta 1, catalytic subunit  / complex / reaction
 ENSG00000143799 PARP1 / P09874 / poly(ADP-ribose) polymerase 1  / reaction






 

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