APEX1 (apurinic/apyrimidinic endodeoxyribonuclease 1)

2003-02-01  

Identity

HGNC
APEX1
LOCATION
14q11.2
LOCUSID
328
ALIAS
APE,APE1,APEN,APEX,APX,HAP1,REF1
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

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

References

Pubmed IDYearTitleCitations
378066192024Coordination between human DNA polymerase β and apurinic/apyrimidinic endonuclease 1 in the course of DNA repair.1
380563112024In vitro and In vivo evidence demonstrating chronic absence of Ref-1 Cysteine 65 impacts Ref-1 folding configuration, redox signaling, proliferation and metastasis in pancreatic cancer.2
382364792024Investigation of APE1 and OGG1 expression in chronic hemodialysis patients.0
384186952024APE1 inhibition enhances ferroptotic cell death and contributes to hepatocellular carcinoma therapy.2
384366972024Apurinic/apyrimidinic endodeoxyribonuclease 1 (APE1) promotes stress granule formation via YBX1 phosphorylation in ovarian cancer.0
385541102024Live-cell imaging of human apurinic/apyrimidinic endonuclease 1 in the nucleus and nucleolus using a chaperone@DNA probe.0
378066192024Coordination between human DNA polymerase β and apurinic/apyrimidinic endonuclease 1 in the course of DNA repair.1
380563112024In vitro and In vivo evidence demonstrating chronic absence of Ref-1 Cysteine 65 impacts Ref-1 folding configuration, redox signaling, proliferation and metastasis in pancreatic cancer.2
382364792024Investigation of APE1 and OGG1 expression in chronic hemodialysis patients.0
384186952024APE1 inhibition enhances ferroptotic cell death and contributes to hepatocellular carcinoma therapy.2
384366972024Apurinic/apyrimidinic endodeoxyribonuclease 1 (APE1) promotes stress granule formation via YBX1 phosphorylation in ovarian cancer.0
385541102024Live-cell imaging of human apurinic/apyrimidinic endonuclease 1 in the nucleus and nucleolus using a chaperone@DNA probe.0
357504702023Activation of NOTCH signaling via DLL1 is mediated by APE1-redox-dependent NF-κB activation in oesophageal adenocarcinoma.8
366898672023Fluorescently labeled human apurinic/apyrimidinic endonuclease APE1 reveals effects of DNA polymerase β on the APE1-DNA interaction.2
368559462023AUF1 Recognizes 8-Oxo-Guanosine Embedded in DNA and Stimulates APE1 Endoribonuclease Activity.1

Citation

Dessen P

APEX1 (apurinic/apyrimidinic endodeoxyribonuclease 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/669/haematological-explorer/gene-fusions-explorer/js/template.js