Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
328
Gene name Gene Name - the full gene name approved by the HGNC.
Apurinic/apyrimidinic endodeoxyribonuclease 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
APEX1
Synonyms (NCBI Gene) Gene synonyms aliases
APE, APE1, APEN, APEX, APX, HAP1, REF1
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 factor Regulation Reference
HIF1A Repression 19524065
SP1 Repression 18208837
SP1 Unknown 7534297
USF1 Unknown 7534297
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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:0003684 Function Damaged DNA binding IDA 12524539, 14706345, 24703901
GO:0003691 Function Double-stranded telomeric DNA binding IDA 24703901
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
107748 587 ENSG00000100823
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Amyotrophic Lateral Sclerosis amyotrophic lateral sclerosis GenCC
Associations from Text Mining
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