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Showing Protein DNA-(apurinic or apyrimidinic site) lyase (HMDBP10647)

IdentificationBiological propertiesGene propertiesProtein propertiesExternal linksReferencesXMLShow 2 metabolites
Identification
HMDB Protein ID HMDBP10647
Secondary Accession Numbers
  • 16883
Name DNA-(apurinic or apyrimidinic site) lyase
Synonyms
  1. AP endonuclease 1
  2. APEN
  3. APEX nuclease
  4. Apurinic-apyrimidinic endonuclease 1
  5. Protein REF-1
Gene Name APEX1
Protein Type Enzyme
Biological Properties
General Function Involved in DNA binding
Specific Function Repairs oxidative DNA damages in vitro. May have a role in protection against cell lethality and suppression of mutations. Removes the blocking groups from the 3'-termini of the DNA strand breaks generated by ionizing radiations and bleomycin
Pathways Not Available
Reactions Not Available
GO Classification
Component
cell part
intracellular
Function
hydrolase activity, acting on ester bonds
binding
catalytic activity
hydrolase activity
nucleic acid binding
dna binding
nuclease activity
endonuclease activity
Process
metabolic process
macromolecule metabolic process
cellular macromolecule metabolic process
dna metabolic process
dna repair
Cellular Location
  1. Nucleus
Gene Properties
Chromosome Location Chromosome:1
Locus 14q11.2
SNPs APEX1
Gene Sequence 
>957 bp
ATGCCGAAGCGTGGGAAAAAGGGAGCGGTGGCGGAAGACGGGGATGAGCTCAGGACAGAG
CCAGAGGCCAAGAAGAGTAAGACGGCCGCAAAGAAAAATGACAAAGAGGCAGCAGGAGAG
GGCCCAGCCCTGTATGAGGACCCCCCAGATCAGAAAACCTCACCCAGTGGCAAACCTGCC
ACACTCAAGATCTGCTCTTGGAATGTGGATGGGCTTCGAGCCTGGATTAAGAAGAAAGGA
TTAGATTGGGTAAAGGAAGAAGCCCCAGATATACTGTGCCTTCAAGAGACCAAATGTTCA
GAGAACAAACTACCAGCTGAACTTCAGGAGCTGCCTGGACTCTCTCATCAATACTGGTCA
GCTCCTTCGGACAAGGAAGGGTACAGTGGCGTGGGCCTGCTTTCCCGCCAGTGCCCACTC
AAAGTTTCTTACGGCATAGGCGATGAGGAGCATGATCAGGAAGGCCGGGTGATTGTGGCT
GAATTTGACTCGTTTGTGCTGGTAACAGCATATGTACCTAATGCAGGCCGAGGTCTGGTA
CGACTGGAGTACCGGCAGCGCTGGGATGAAGCCTTTCGCAAGTTCCTGAAGGGCCTGGCT
TCCCGAAAGCCCCTTGTGCTGTGTGGAGACCTCAATGTGGCACATGAAGAAATTGACCTT
CGCAACCCGAAGGGGAACAAAAAGAATGCTGGCTTCACGCCACAAGAGGCCCAAGGCTTC
GGGGAATTACTGCAGGCTGTGCCACTGGCTGACAGCTTTAGGCACCTCTACCCCAACACA
CCCTATGCCTACACCTTTTGGACTTATATGATGAATGCTCGATCCAAGAATGTTGGTTGG
CGCCTTGATTACTTTTTGTTGTCCCACTCTCTGTTACCTGCATTGTGTGACAGCAAGATC
CGTTCCAAGGCCCTCGGCAGTGATCACTGTCCTATCACCCTATACCTAGCACTGTGA
Protein Properties
Number of Residues 318
Molecular Weight 35554.2
Theoretical pI 8.26
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence 
>DNA-(apurinic or apyrimidinic site) lyase
MPKRGKKGAVAEDGDELRTEPEAKKSKTAAKKNDKEAAGEGPALYEDPPDQKTSPSGKPA
TLKICSWNVDGLRAWIKKKGLDWVKEEAPDILCLQETKCSENKLPAELQELPGLSHQYWS
APSDKEGYSGVGLLSRQCPLKVSYGIGDEEHDQEGRVIVAEFDSFVLVTAYVPNAGRGLV
RLEYRQRWDEAFRKFLKGLASRKPLVLCGDLNVAHEEIDLRNPKGNKKNAGFTPQERQGF
GELLQAVPLADSFRHLYPNTPYAYTFWTYMMNARSKNVGWRLDYFLLSHSLLPALCDSKI
RSKALGSDHCPITLYLAL
GenBank ID Protein 32024
UniProtKB/Swiss-Prot ID P27695
UniProtKB/Swiss-Prot Entry Name APEX1_HUMAN
PDB IDs
GenBank Gene ID X59764
GeneCard ID APEX1
GenAtlas ID APEX1
HGNC ID HGNC:587
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ: Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. Nat Biotechnol. 2005 Jan;23(1):94-101. Epub 2004 Dec 12. [PubMed:15592455 ]
  3. Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M: Lysine acetylation targets protein complexes and co-regulates major cellular functions. Science. 2009 Aug 14;325(5942):834-40. doi: 10.1126/science.1175371. Epub 2009 Jul 16. [PubMed:19608861 ]
  4. Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA: Large-scale concatenation cDNA sequencing. Genome Res. 1997 Apr;7(4):353-8. [PubMed:9110174 ]
  5. Robson CN, Hochhauser D, Craig R, Rack K, Buckle VJ, Hickson ID: Structure of the human DNA repair gene HAP1 and its localisation to chromosome 14q 11.2-12. Nucleic Acids Res. 1992 Sep 11;20(17):4417-21. [PubMed:1383925 ]
  6. Robson CN, Hickson ID: Isolation of cDNA clones encoding a human apurinic/apyrimidinic endonuclease that corrects DNA repair and mutagenesis defects in E. coli xth (exonuclease III) mutants. Nucleic Acids Res. 1991 Oct 25;19(20):5519-23. [PubMed:1719477 ]
  7. Xanthoudakis S, Miao G, Wang F, Pan YC, Curran T: Redox activation of Fos-Jun DNA binding activity is mediated by a DNA repair enzyme. EMBO J. 1992 Sep;11(9):3323-35. [PubMed:1380454 ]
  8. Zhao B, Grandy DK, Hagerup JM, Magenis RE, Smith L, Chauhan BC, Henner WD: The human gene for apurinic/apyrimidinic endonuclease (HAP1): sequence and localization to chromosome 14 band q12. Nucleic Acids Res. 1992 Aug 11;20(15):4097-8. [PubMed:1380694 ]
  9. Seki S, Hatsushika M, Watanabe S, Akiyama K, Nagao K, Tsutsui K: cDNA cloning, sequencing, expression and possible domain structure of human APEX nuclease homologous to Escherichia coli exonuclease III. Biochim Biophys Acta. 1992 Jul 15;1131(3):287-99. [PubMed:1627644 ]
  10. Akiyama K, Seki S, Oshida T, Yoshida MC: Structure, promoter analysis and chromosomal assignment of the human APEX gene. Biochim Biophys Acta. 1994 Sep 13;1219(1):15-25. [PubMed:8086453 ]
  11. 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. 1991 Dec 15;88(24):11450-4. [PubMed:1722334 ]
  12. Cheng XB, Bunville J, Patterson TA: Nucleotide sequence of a cDNA for an apurinic/apyrimidinic endonuclease from HeLa cells. Nucleic Acids Res. 1992 Jan 25;20(2):370. [PubMed:1371347 ]
  13. Harrison L, Ascione G, Menninger JC, Ward DC, Demple B: Human apurinic endonuclease gene (APE): structure and genomic mapping (chromosome 14q11.2-12). Hum Mol Genet. 1992 Dec;1(9):677-80. [PubMed:1284593 ]
  14. Rothwell DG, Hickson ID: Asparagine 212 is essential for abasic site recognition by the human DNA repair endonuclease HAP1. Nucleic Acids Res. 1996 Nov 1;24(21):4217-21. [PubMed:8932375 ]
  15. 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. 2001 Apr 6;307(4):1023-34. [PubMed:11286553 ]
  16. Gorman MA, Morera S, Rothwell DG, de La Fortelle E, Mol CD, Tainer JA, Hickson ID, Freemont PS: The crystal structure of the human DNA repair endonuclease HAP1 suggests the recognition of extra-helical deoxyribose at DNA abasic sites. EMBO J. 1997 Nov 3;16(21):6548-58. [PubMed:9351835 ]
  17. Mol CD, Izumi T, Mitra S, Tainer JA: DNA-bound structures and mutants reveal abasic DNA binding by APE1 and DNA repair coordination [corrected]. Nature. 2000 Jan 27;403(6768):451-6. [PubMed:10667800 ]
  18. Fan Z, Beresford PJ, Zhang D, Xu Z, Novina CD, Yoshida A, Pommier Y, Lieberman J: Cleaving the oxidative repair protein Ape1 enhances cell death mediated by granzyme A. Nat Immunol. 2003 Feb;4(2):145-53. Epub 2003 Jan 13. [PubMed:12524539 ]