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APEX1

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APEX1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesAPEX1, APE, APE1, APEN, APEX, APX, HAP1, REF1, apurinic/apyrimidinic endodeoxyribonuclease 1
External IDsOMIM: 107748; MGI: 88042; HomoloGene: 1241; GeneCards: APEX1; OMA:APEX1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001244249
NM_001641
NM_080648
NM_080649

NM_009687

RefSeq (protein)

NP_001231178
NP_001632
NP_542379
NP_542380

NP_033817

Location (UCSC)Chr 14: 20.46 – 20.46 MbChr 14: 51.16 – 51.16 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 APEX 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.[5]

Interactions

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APEX1 has been shown to interact with MUTYH,[6] Flap structure-specific endonuclease 1[7] and XRCC1.[8]

Aging

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Deficiency of APEX1 causes accummulation of DNA damage leading to both cellular senescence and features of premature aging.[9] This finding is consistent with the theory that DNA damage is a primary cause of aging.[10]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000100823Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035960Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1".
  6. ^ Parker A, Gu Y, Mahoney W, Lee SH, Singh KK, Lu AL (February 2001). "Human homolog of the MutY repair protein (hMYH) physically interacts with proteins involved in long patch DNA base excision repair". The Journal of Biological Chemistry. 276 (8): 5547–55. doi:10.1074/jbc.M008463200. PMID 11092888.
  7. ^ Dianova II, Bohr VA, Dianov GL (October 2001). "Interaction of human AP endonuclease 1 with flap endonuclease 1 and proliferating cell nuclear antigen involved in long-patch base excision repair". Biochemistry. 40 (42): 12639–44. doi:10.1021/bi011117i. PMID 11601988.
  8. ^ Vidal AE, Boiteux S, Hickson ID, Radicella JP (November 2001). "XRCC1 coordinates the initial and late stages of DNA abasic site repair through protein-protein interactions". The EMBO Journal. 20 (22): 6530–9. doi:10.1093/emboj/20.22.6530. PMC 125722. PMID 11707423.
  9. ^ Li M, Yang X, Lu X, Dai N, Zhang S, Cheng Y, et al. (June 2018). "APE1 deficiency promotes cellular senescence and premature aging features". Nucleic Acids Research. 46 (11): 5664–5677. doi:10.1093/nar/gky326. PMC 6009672. PMID 29750271.
  10. ^ Gensler HL, Bernstein H (September 1981). "DNA damage as the primary cause of aging". The Quarterly Review of Biology. 56 (3): 279–303. doi:10.1086/412317. PMID 7031747. S2CID 20822805.

Further reading

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