APEX1 - apurinic/apyrimidinic endodeoxyribonuclease 1 Gene
Also Known as APE; APX; APE1; APEN; APEX; HAP1; REF1
Species: Homo sapiens
About APEX1
This gene has 20 transcripts (splice variants), 214 orthologues and 1 paralogue. Ubiquitous expression in ovary (RPKM 68.7), endometrium (RPKM 60.6) and 25 other tissues.
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 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]
APEX1 Products (8)
| mRNA | Protein | Name |
|---|---|---|
| NM_001244249.2 | NP_001231178.1 | DNA-(apurinic or apyrimidinic site) endonuclease |
| NM_001641.4 | NP_001632.2 | DNA-(apurinic or apyrimidinic site) endonuclease |
| NM_080648.3 | NP_542379.1 | DNA-(apurinic or apyrimidinic site) endonuclease |
| NM_080649.3 | NP_542380.1 | DNA-(apurinic or apyrimidinic site) endonuclease |
| NM_001244249.2 | NP_001231178.1 | DNA-(apurinic or apyrimidinic site) endonuclease |
| NM_001641.4 | NP_001632.2 | DNA-(apurinic or apyrimidinic site) endonuclease |
| NM_080648.3 | NP_542379.1 | DNA-(apurinic or apyrimidinic site) endonuclease |
| NM_080649.3 | NP_542380.1 | DNA-(apurinic or apyrimidinic site) endonuclease |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in DNA catabolic process |
IDA
IDA: Inferred from direct assay
|
1627644 | GOA |
| involved in DNA repair |
IDA
IDA: Inferred from direct assay
|
1627644 | GOA |
| involved in base-excision repair |
IDA
IDA: Inferred from direct assay
|
8932386 | GOA |
| involved in positive regulation of gene expression via chromosomal CpG island demethylation |
IDA
IDA: Inferred from direct assay
|
21496894 | GOA |
| involved in positive regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
18809583 | GOA |
| involved in regulation of apoptotic process |
IDA
IDA: Inferred from direct assay
|
19934257 | GOA |
| involved in regulation of mRNA stability |
IMP
IMP: Inferred from mutant phenotype
|
19401441 | GOA |
| involved in telomere maintenance |
IDA
IDA: Inferred from direct assay
|
24703901 | GOA |
| involved in telomere maintenance via base-excision repair |
IDA
IDA: Inferred from direct assay
|
24703901 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
9560228 | GOA |
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
20231292 | GOA |
| located in nuclear speck |
IDA
IDA: Inferred from direct assay
|
17148573 | GOA |
| located in nucleolus |
IDA
IDA: Inferred from direct assay
|
17148573 | GOA |
| located in nucleoplasm |
IDA
IDA: Inferred from direct assay
|
17148573 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
9119221 | GOA |
| located in perinuclear region of cytoplasm |
IDA
IDA: Inferred from direct assay
|
12524539 | GOA |
APEX1 Protein Structure
Exo_endo_phos: Endonuclease/Exonuclease/phosphatase family (66 - 309)
- 0
- 100
- 200
- 300
- 318 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
DNA-(apurinic or apyrimidinic site) endonuclease |
|
APEX1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
APEX1 | P27695 | SIRT1 | Homo sapiens | Q96EB6 | 19934257 | |
|
Intra
|
APEX1 | P27695 | SIRT1 | Homo sapiens | Q96EB6 | 19934257 | |
|
Intra
|
APEX1 | P27695 | EP300 | Homo sapiens | Q09472 | 20856196 | |
|
Intra
|
APEX1 | P27695 | EP300 | Homo sapiens | Q09472 | 20856196 | |
|
Intra
|
APEX1 | P27695 | EP300 | Homo sapiens | Q09472 | 20808282 | |
|
Intra
|
APEX1 | P27695 | KLHL36 | Homo sapiens | Q8N4N3 | 28514442 | |
|
Intra
|
APEX1 | P27695 | KLHL36 | Homo sapiens | Q8N4N3 | 33961781 |
Recombinant APEX1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P7523 | APE Protein, Human | P27695 (P2-L318) | ≥ 90%, as determined by reducing SDS-PAGE. |
APEX1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82375 | APE1 Antibody (YA2120) | WB | Human, Mouse, Rat |
| HY-P84226 | APE1 Antibody (YA3923) | WB, IHC-P, FC, ELISA | Human, Rat, Monkey |
| HY-P84226A | APE1 Antibody (YA3923)(PBS only) | WB, IHC-P, FC, ELISA | Human, Rat, Monkey |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Xeroderma Pigmentosum, Variant Type |
|
|
| Cheilitis |
|
|
| Cystic Fibrosis |
|
|
| Spinocerebellar Ataxia Type 1 With Axonal Neuropathy |
|
|
| Cockayne Syndrome |
|
|
| Xeroderma Pigmentosum, Complementation Group G |
|
|
| Lung Cancer |
|
|
| Colorectal Cancer |
|
|
| Bladder Cancer |
|
|
| Cockayne Syndrome B |
|
|
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
|
| Cockayne Syndrome A |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
| Neural Tube Defects |
|
|
| Pancreatic Cancer |
|
|
| Gastric Cancer |
|
|
| Ovarian Cancer |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Cataract |
|
|
| Prostate Cancer |
|
|
| Trichothiodystrophy |
|
|
| Breast Cancer |
|
|
| Lynch Syndrome |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | APEX1 | RGD | RGD:2126 |
| Canis familiaris | APEX1 | VGNC | VGNC:54195 |
| Mus musculus | APEX1 | MGD | MGI:88042 |
| Felis catus | APEX1 | VGNC | VGNC:67740 |
| Macaca mulatta | APEX1 | VGNC | VGNC:84305 |
| Bos taurus | APEX1 | VGNC | VGNC:26011 |
| Others | APEX1 | NCBI |