Gene Gene information from NCBI Gene database.
Entrez ID 328
Gene name Apurinic/apyrimidinic endodeoxyribonuclease 1
Gene symbol APEX1
Synonyms (NCBI Gene)
APEAPE1APENAPEXAPXHAP1REF1
Chromosome 14
Chromosome location 14q11.2
Summary The APEX gene encodes the major AP endonuclease in human cells. It encodes the APEX endonuclease, a DNA repair enzyme with apurinic/apyrimidinic (AP) activity. Such AP activity sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA dama
miRNA miRNA information provided by mirtarbase database.
201
miRTarBase ID miRNA Experiments Reference
MIRT050830 hsa-miR-17-5p CLASH 23622248
MIRT048610 hsa-miR-99a-5p CLASH 23622248
MIRT048405 hsa-miR-100-5p CLASH 23622248
MIRT045386 hsa-miR-185-5p CLASH 23622248
MIRT036701 hsa-miR-935 CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
HIF1A Repression 19524065
SP1 Repression 18208837
SP1 Unknown 7534297
USF1 Unknown 7534297
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
73
GO ID Ontology Definition Evidence Reference
GO:0000723 Process Telomere maintenance IDA 24703901
GO:0000781 Component Chromosome, telomeric region IC 24703901
GO:0003677 Function DNA binding IDA 11286553
GO:0003677 Function DNA binding IEA
GO:0003684 Function Damaged DNA binding IDA 12524539, 14706345, 24703901
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
107748 587 ENSG00000100823
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P27695
Protein name DNA repair nuclease/redox regulator APEX1 (EC 3.1.11.2) (EC 3.1.21.-) (APEX nuclease) (APEN) (Apurinic-apyrimidinic endonuclease 1) (AP endonuclease 1) (APE-1) (DNA-(apurinic or apyrimidinic site) endonuclease) (Redox factor-1) (REF-1) [Cleaved into: DNA
Protein function Multifunctional protein that plays a central role in the cellular response to oxidative stress. The two major activities of APEX1 are DNA repair and redox regulation of transcriptional factors (PubMed:11118054, PubMed:11452037, PubMed:15831793,
PDB 1BIX , 1CQG , 1CQH , 1DE8 , 1DE9 , 1DEW , 1E9N , 1HD7 , 2ISI , 2O3H , 3U8U , 4IEM , 4LND , 4QH9 , 4QHD , 4QHE , 5CFG , 5DFF , 5DFH , 5DFI , 5DFJ , 5DG0 , 5WN0 , 5WN1 , 5WN2 , 5WN3 , 5WN4 , 5WN5 , 6BOQ , 6BOR , 6BOS , 6BOT , 6BOU , 6BOV , 6BOW , 6MK3 , 6MKK , 6MKM , 6MKO , 6P93 , 6P94 , 6W0Q , 6W2P , 6W3L , 6W3N , 6W3Q , 6W3U , 6W43 , 6W4I , 6W4T , 7LPG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03372 Exo_endo_phos 65 309 Endonuclease/Exonuclease/phosphatase family Domain
Sequence
Sequence length 318
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
10
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
APEX1-related disorder Benign; Likely benign rs1130409, rs33956927, rs1065749, rs747759495 RCV003976102
RCV003920535
RCV003930713
RCV003958086
Cervical cancer Benign rs2307486 RCV005906529
Head and neck cancer not provided rs762384959 RCV000626483
Hepatocellular carcinoma Benign rs2307486 RCV005906527
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 18478337, 19414392, 21198260, 26934647, 31308045, 33887608
Adenocarcinoma Stimulate 29991802
Adenocarcinoma of Lung Associate 23781133, 23951099
Adenoma Associate 20534734, 23951112, 34126796
Amyotrophic Lateral Sclerosis Associate 32005289
Anophthalmia with pulmonary hypoplasia Associate 23094050
Barrett Esophagus Associate 29991802, 33887608
beta Thalassemia Associate 31218684
Bile Reflux Associate 26934647
Breast Neoplasms Associate 18701435, 19460860, 23631762, 23755158, 24606430, 24642895, 24914806, 25111287, 25292033, 26125438, 26257461, 29720094