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APEX1

APEX nuclease (multifunctional DNA repair enzyme) 1

On chromosome: 14q11.2-q12
Known also as: APE; APX; APE1; APEN; APEX; HAP1; REF1;


NCBI Gene ID: 328
NCBI Ensembl Id: ENSG00000100823
MIM Id: (from NCBI OMIM database) 107748
Species: Homo sapiens

Apurinic/apyrimidinic (AP) 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 so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein. [provided by RefSeq]


Gene sequence:
[Download sequence]

Proteins coded by this gene:
References:

Authors Title Journal
Demple B, Herman T, Chen DS Cloning and expression of APE, the cDNA encoding the major human apurinic endonuclease: definition of a family of DNA repair enzymes. Proc Natl Acad Sci U S A Dec. 15, 1991
Jayaraman L, Murthy KG, Zhu C, Curran T, Xanthoudakis S, Prives C Identification of redox/repair protein Ref-1 as a potent activator of p53. Genes Dev March 1, 1997
Beernink PT, Segelke BW, Hadi MZ, Erzberger JP, Wilson DM 3rd, Rupp B Two divalent metal ions in the active site of a new crystal form of human apurinic/apyrimidinic endonuclease, Ape1: implications for the catalytic mechanism. J Mol Biol April 6, 2001
Rodrigues-Lima F, Josephs M, Katan M, Cassinat B Sequence analysis identifies TTRAP, a protein that associates with CD40 and TNF receptor-associated factors, as a member of a superfamily of divalent cation-dependent phosphodiesterases. Biochem Biophys Res Commun Aug. 3, 2001

Last modification of this entry: Oct. 6, 2010.

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