APEX1
apurinic/apyrimidinic endodeoxyribonuclease 1 | APE, APE-1, APE1, APEN, APX, HAP1, REF-1, REF1, APEX

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 damaging agents or by DNA glycosylases that remove specific abnormal bases. The AP sites are the most frequent pre-mutagenic lesions that can prevent normal DNA replication. Splice variants have been found for this gene; all encode the same protein. Disruptions in the biological functions related to APEX are associated with many various malignancies and neurodegenerative diseases.[provided by RefSeq, Dec 2019]

Member of: DE-1 Developmental clusters: GC4
Biological processes 70 terms
3'-5' exonuclease activity (GO:0008408)3'-5' exonuclease activity (GO:0008408)3'-5'-DNA exonuclease activity (GO:0008296)DNA binding (GO:0003677)DNA binding (GO:0003677)DNA catabolic process (GO:0006308)DNA endonuclease activity (GO:0004520)DNA repair (GO:0006281)DNA repair (GO:0006281)DNA-(abasic site) binding (GO:0140431)DNA-(apurinic or apyrimidinic site) endonuclease activity (GO:0003906)DNA-(apurinic or apyrimidinic site) endonuclease activity (GO:0003906)DNA-(apurinic or apyrimidinic site) endonuclease activity (GO:0003906)RNA binding (GO:0003723)RNA-DNA hybrid ribonuclease activity (GO:0004523)base-excision repair (GO:0006284)base-excision repair (GO:0006284)base-excision repair (GO:0006284)base-excision repair, gap-filling (GO:0006287)catalytic activity (GO:0003824)chromatin (GO:0000785)chromatin DNA binding (GO:0031490)chromosome, telomeric region (GO:0000781)class II DNA-(apurinic or apyrimidinic site) endonuclease activity (GO:0052720)cytoplasm (GO:0005737)cytoplasm (GO:0005737)damaged DNA binding (GO:0003684)deoxyribonuclease (pyrimidine dimer) activity (GO:0033892)double-stranded DNA 3'-5' DNA exonuclease activity (GO:0008311)double-stranded DNA 3'-5' DNA exonuclease activity (GO:0008311)double-stranded DNA exodeoxyribonuclease activity (GO:0008309)double-stranded telomeric DNA binding (GO:0003691)endonuclease activity (GO:0004519)endonuclease activity (GO:0004519)endoplasmic reticulum (GO:0005783)endoplasmic reticulum (GO:0005783)endoplasmic reticulum (GO:0005783)granzyme-mediated apoptotic signaling pathway (GO:0008626)metal ion binding (GO:0046872)mitochondrion (GO:0005739)mitochondrion (GO:0005739)mitochondrion (GO:0005739)negative regulation of DNA-templated transcription (GO:0045892)nuclear speck (GO:0016607)nuclear speck (GO:0016607)nuclease activity (GO:0004518)nucleolus (GO:0005730)nucleolus (GO:0005730)nucleoplasm (GO:0005654)nucleoplasm (GO:0005654)nucleus (GO:0005634)nucleus (GO:0005634)nucleus (GO:0005634)oxidoreductase activity (GO:0016491)perinuclear region of cytoplasm (GO:0048471)phosphodiesterase I activity (GO:0004528)phosphodiesterase activity, acting on 3'-phosphoglycolate-terminated DNA strands (GO:0090580)phosphoric diester hydrolase activity (GO:0008081)phosphoric diester hydrolase activity (GO:0008081)positive regulation of gene expression via chromosomal CpG island demethylation (GO:0044029)positive regulation of transcription by RNA polymerase II (GO:0045944)protein binding (GO:0005515)regulation of apoptotic process (GO:0042981)regulation of mRNA stability (GO:0043488)ribosome (GO:0005840)telomere maintenance (GO:0000723)telomere maintenance via base-excision repair (GO:0097698)transcription coactivator activity (GO:0003713)transcription corepressor activity (GO:0003714)uracil DNA N-glycosylase activity (GO:0004844)
Expression (TPM)
APEX1 — as a Regulated Gene

TFs regulating APEX1 0 TFs

Transcription factors with Perturb-seq knockdown data for APEX1. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = APEX1 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to APEX1

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of APEX1, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Accessibility Element Dist. to TSS Link type TFs
chr14:20,332,742–20,333,665 122.0 kb Distal (>10kb) Multiome 694
chr14:20,342,187–20,344,100 111.9 kb Distal (>10kb) Multiome 1112
chr14:20,412,688–20,413,758 41.9 kb Distal (>10kb) Multiome 865
chr14:20,454,384–20,455,825 151 bp At TSS Multiome 1012
chr14:20,460,777–20,462,259 6.4 kb Proximal (<10kb) Multiome 995
chr14:20,468,846–20,470,856 14.2 kb Distal (>10kb) Multiome 950
chr14:20,494,584–20,495,486 39.8 kb Distal (>10kb) Multiome 201
chr14:20,609,147–20,610,547 154.9 kb Distal (>10kb) Multiome HiCAR 852
chr14:20,612,915–20,614,464 158.4 kb Distal (>10kb) Multiome 1003
chr14:20,624,684–20,626,122 170.1 kb Distal (>10kb) Multiome 728
chr14:20,630,325–20,631,286 175.5 kb Distal (>10kb) Multiome 507
chr14:20,631,700–20,633,862 178.0 kb Distal (>10kb) Multiome 757
chr14:20,642,696–20,643,499 187.8 kb Distal (>10kb) Multiome 52
chr14:20,644,459–20,645,301 189.5 kb Distal (>10kb) Multiome 52
chr14:20,652,905–20,654,391 198.1 kb Distal (>10kb) Multiome 320
chr14:20,657,425–20,658,132 202.6 kb Distal (>10kb) Multiome 320
chr14:20,662,835–20,663,940 208.1 kb Distal (>10kb) Multiome 587
chr14:20,681,216–20,685,294 229.2 kb Distal (>10kb) Multiome 1181
chr14:20,705,982–20,707,066 251.2 kb Distal (>10kb) Multiome 110
chr14:20,732,350–20,732,945 277.4 kb Distal (>10kb) Multiome 51

Genome Browser

Genomic view of the APEX1 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.

chr14:20,322,742 – 20,742,945
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq