APEX1

Also known as APE, APE1, APEN, APEX, APX, HAP1, REF1, apurinic/apyrimidinic endodeoxyribonuclease 1

DNA-(apurinic or apyrimidinic site) lyase is an enzyme that in humans is encoded by the APEX1 gene.

Gene data

APEX1

Name: apurinic/apyrimidinic endodeoxyribonuclease 1
Type: protein-coding
Aliases: APE, APE1, APEN, APEX, APX, HAP1, REF1

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].

via MyGene.info

Gene · Ensembl

apurinic/apyrimidinic endodeoxyribonuclease 1

Symbol: APEX1
Biotype: Protein coding
Organism: Homo sapiens
Location: 14:20,454,525-20,458,036
Strand: Forward (+)
Assembly: GRCh38

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via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene
Image: Protein APEX1 PDB 1bix.png

Show 8 more facts

HomoloGene ID: 1241
genomic end: 20457772
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/328
genomic start: 20923350
chromosome: human chromosome 14
cytogenetic location: 14q11.2
expressed in: rectum

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Encyclopedic overview

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DNA-(apurinic or apyrimidinic site) lyase is an enzyme that in humans is encoded by the APEX1 gene.

Apurinic/apyrimidinic (AP) sites (also called "abasic sites") occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication. All cells, from simple prokaryotes to humans, have evolved systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site, thereby initiating a process known as base excision repair (BER). The APEX1 gene (alternatively named APE1, HAP1, APEN) encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein.

Excerpted from Wikipedia’s “APEX1” article, available under the CC BY-SA 4.0 licence.