APEX1 (apurinic/apyrimidinic endodeoxyribonuclease 1)

2003-02-01  

Identity

HGNC
LOCATION
14q11.2
LOCUSID
ALIAS
APE,APE1,APEN,APEX,APX,HAP1,REF1
FUSION GENES

Other Information

Locus ID:

NCBI: 328
MIM: 107748
HGNC: 587
Ensembl: ENSG00000100823

Variants:

dbSNP: 328
ClinVar: 328
TCGA: ENSG00000100823
COSMIC: APEX1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100823ENST00000216714P27695
ENSG00000100823ENST00000216714Q5TZP7
ENSG00000100823ENST00000398030P27695
ENSG00000100823ENST00000398030Q5TZP7
ENSG00000100823ENST00000438886H7C4A8
ENSG00000100823ENST00000553368G3V3Y6
ENSG00000100823ENST00000553681G3V3M6
ENSG00000100823ENST00000554325G3V2D9
ENSG00000100823ENST00000555414P27695
ENSG00000100823ENST00000555414Q5TZP7
ENSG00000100823ENST00000555839G3V5Q1
ENSG00000100823ENST00000556054G3V3C7
ENSG00000100823ENST00000557054G3V574
ENSG00000100823ENST00000557150G3V5M0
ENSG00000100823ENST00000557181G3V5D9
ENSG00000100823ENST00000557344A0A0C4DGK8
ENSG00000100823ENST00000557592G3V359

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
Base excision repairKEGGko03410
Base excision repairKEGGhsa03410
BER complexKEGGhsa_M00296
BER complexKEGGM00296
DNA RepairREACTOMER-HSA-73894
Base Excision RepairREACTOMER-HSA-73884
Resolution of Abasic Sites (AP sites)REACTOMER-HSA-73933
Displacement of DNA glycosylase by APEX1REACTOMER-HSA-110357
Resolution of AP sites via the single-nucleotide replacement pathwayREACTOMER-HSA-110381
Abasic sugar-phosphate removal via the single-nucleotide replacement pathwayREACTOMER-HSA-73930
Resolution of AP sites via the multiple-nucleotide patch replacement pathwayREACTOMER-HSA-110373
POLB-Dependent Long Patch Base Excision RepairREACTOMER-HSA-110362
PCNA-Dependent Long Patch Base Excision RepairREACTOMER-HSA-5651801

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164713176Platinum compoundsChemicalVariantAnnotationnot associatedPD28791697
PA443622Carcinoma, Non-Small-Cell LungDiseaseVariantAnnotationnot associatedPD28791697
PA443937Drug ToxicityDiseaseVariantAnnotationnot associatedPD28791697

References

Pubmed IDYearTitleCitations
157060842005The intracellular localization of APE1/Ref-1: more than a passive phenomenon?132
156943462005A vital role for Ape1/Ref1 protein in repairing spontaneous DNA damage in human cells.125
162218082005Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review.120
162218082005Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review.120
161952372006Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.112
158243252005Two essential but distinct functions of the mammalian abasic endonuclease.110
152108532004Human apurinic endonuclease 1 (APE1) expression and prognostic significance in osteosarcoma: enhanced sensitivity of osteosarcoma to DNA damaging agents using silencing RNA APE1 expression inhibition.96
191884452009APE1/Ref-1 interacts with NPM1 within nucleoli and plays a role in the rRNA quality control process.89
157461602005Constitutional short telomeres are strong genetic susceptibility markers for bladder cancer.83
238344632014Human apurinic/apyrimidinic endonuclease 1.78

Citation

Dessen P

APEX1 (apurinic/apyrimidinic endodeoxyribonuclease 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/669/apex1