LOCUS       NM_014481               3239 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens apurinic/apyrimidinic endodeoxyribonuclease 2 (APEX2),
            transcript variant 1, mRNA.
ACCESSION   NM_014481
VERSION     NM_014481.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3239)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 3239)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 3239)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 3239)
  AUTHORS   Jensen,K.A., Shi,X. and Yan,S.
  TITLE     Genomic alterations and abnormal expression of APE2 in multiple
            cancers
  JOURNAL   Sci Rep 10 (1), 3758 (2020)
   PUBMED   32111912
  REMARK    GeneRIF: Genomic alterations and abnormal expression of APE2 in
            multiple cancers.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3239)
  AUTHORS   Lin,Y., Raj,J., Li,J., Ha,A., Hossain,M.A., Richardson,C.,
            Mukherjee,P. and Yan,S.
  TITLE     APE1 senses DNA single-strand breaks for repair and signaling
  JOURNAL   Nucleic Acids Res 48 (4), 1925-1940 (2020)
   PUBMED   31828326
  REMARK    GeneRIF: we propose a two-step APE1/APE2-mediated mechanism for DNA
            single-strand breaks (SSBs) end resection that couples DNA damage
            response with SSB repair in a eukaryotic system.
REFERENCE   6  (bases 1 to 3239)
  AUTHORS   Burkovics,P., Hajdu,I., Szukacsov,V., Unk,I. and Haracska,L.
  TITLE     Role of PCNA-dependent stimulation of 3'-phosphodiesterase and
            3'-5' exonuclease activities of human Ape2 in repair of oxidative
            DNA damage
  JOURNAL   Nucleic Acids Res 37 (13), 4247-4255 (2009)
   PUBMED   19443450
  REMARK    GeneRIF: Ape2 may be involved in repair of oxidative DNA damage and
            PCNA-dependent repair synthesis.
REFERENCE   7  (bases 1 to 3239)
  AUTHORS   Burkovics,P., Szukacsov,V., Unk,I. and Haracska,L.
  TITLE     Human Ape2 protein has a 3'-5' exonuclease activity that acts
            preferentially on mismatched base pairs
  JOURNAL   Nucleic Acids Res 34 (9), 2508-2515 (2006)
   PUBMED   16687656
  REMARK    GeneRIF: Ape2 exhibits strong 3'-5' exonuclease and
            3'-phosphodiesterase activities and has only a very weak
            AP-endonuclease activity.
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 3239)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   9  (bases 1 to 3239)
  AUTHORS   Hadi,M.Z., Ginalski,K., Nguyen,L.H. and Wilson,D.M. 3rd.
  TITLE     Determinants in nuclease specificity of Ape1 and Ape2, human
            homologues of Escherichia coli exonuclease III
  JOURNAL   J Mol Biol 316 (3), 853-866 (2002)
   PUBMED   11866537
  REMARK    GeneRIF: Determinants in nuclease specificity of Ape1 and Ape2,
            human homologues of Escherichia coli exonuclease III
REFERENCE   10 (bases 1 to 3239)
  AUTHORS   Tsuchimoto,D., Sakai,Y., Sakumi,K., Nishioka,K., Sasaki,M.,
            Fujiwara,T. and Nakabeppu,Y.
  TITLE     Human APE2 protein is mostly localized in the nuclei and to some
            extent in the mitochondria, while nuclear APE2 is partly associated
            with proliferating cell nuclear antigen
  JOURNAL   Nucleic Acids Res 29 (11), 2349-2360 (2001)
   PUBMED   11376153
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP363514.1, BC002959.1,
            BM795632.1 and AL020991.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_014481.3.
            
            Summary: 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 a protein shown to have a weak class II AP
            endonuclease activity. Most of the encoded protein is located in
            the nucleus but some is also present in mitochondria. This protein
            may play an important role in both nuclear and mitochondrial base
            excision repair. Alternatively spliced transcript variants encoding
            multiple isoforms have been observed for this gene. [provided by
            RefSeq, Nov 2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB021260.1, SRR1660803.245155.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000374987.4/
                                                  ENSP00000364126.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                BP363514.1         41-62
            23-1953             BC002959.1         1-1931
            1954-2055           BM795632.1         356-457
            2056-3239           AL020991.1         41611-42794         c
FEATURES             Location/Qualifiers
     source          1..3239
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.21"
     gene            1..3239
                     /gene="APEX2"
                     /gene_synonym="APE2; APEXL2; XTH2; ZGRF2"
                     /note="apurinic/apyrimidinic endodeoxyribonuclease 2"
                     /db_xref="GeneID:27301"
                     /db_xref="HGNC:HGNC:17889"
                     /db_xref="MIM:300773"
     exon            1..217
                     /gene="APEX2"
                     /gene_synonym="APE2; APEXL2; XTH2; ZGRF2"
                     /inference="alignment:Splign:2.1.0"
     CDS             61..1617
                     /gene="APEX2"
                     /gene_synonym="APE2; APEXL2; XTH2; ZGRF2"
                     /EC_number="3.1.11.2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     apurinic/apyrimidinic endonuclease-like 2; DNA-(apurinic
                     or apyrimidinic site) lyase 2; AP endonuclease 2; AP
                     endonuclease XTH2; DNA-(apurinic or apyrimidinic site)
                     endonuclease 2; zinc finger, GRF-type containing 2; APEX
                     nuclease (apurinic/apyrimidinic endonuclease) 2"
                     /codon_start=1
                     /product="DNA-(apurinic or apyrimidinic site) endonuclease
                     2 isoform 1"
                     /protein_id="NP_055296.2"
                     /db_xref="CCDS:CCDS14365.1"
                     /db_xref="GeneID:27301"
                     /db_xref="HGNC:HGNC:17889"
                     /db_xref="MIM:300773"
                     /translation="MLRVVSWNINGIRRPLQGVANQEPSNCAAVAVGRILDELDADIV
                     CLQETKVTRDALTEPLAIVEGYNSYFSFSRNRSGYSGVATFCKDNATPVAAEEGLSGL
                     FATQNGDVGCYGNMDEFTQEELRALDSEGRALLTQHKIRTWEGKEKTLTLINVYCPHA
                     DPGRPERLVFKMRFYRLLQIRAEALLAAGSHVIILGDLNTAHRPIDHWDAVNLECFEE
                     DPGRKWMDSLLSNLGCQSASHVGPFIDSYRCFQPKQEGAFTCWSAVTGARHLNYGSRL
                     DYVLGDRTLVIDTFQASFLLPEVMGSDHCPVGAVLSVSSVPAKQCPPLCTRFLPEFAG
                     TQLKILRFLVPLEQSPVLEQSTLQHNNQTRVQTCQNKAQVRSTRPQPSQVGSSRGQKN
                     LKSYFQPSPSCPQASPDIELPSLPLMSALMTPKTPEEKAVAKVVKGQAKTSEAKDEKE
                     LRTSFWKSVLAGPLRTPLCGGHREPCVMRTVKKPGPNLGRRFYMCARPRGPPTDPSSR
                     CNFFLWSRPS"
     exon            218..301
                     /gene="APEX2"
                     /gene_synonym="APE2; APEXL2; XTH2; ZGRF2"
                     /inference="alignment:Splign:2.1.0"
     exon            302..482
                     /gene="APEX2"
                     /gene_synonym="APE2; APEXL2; XTH2; ZGRF2"
                     /inference="alignment:Splign:2.1.0"
     exon            483..629
                     /gene="APEX2"
                     /gene_synonym="APE2; APEXL2; XTH2; ZGRF2"
                     /inference="alignment:Splign:2.1.0"
     exon            630..699
                     /gene="APEX2"
                     /gene_synonym="APE2; APEXL2; XTH2; ZGRF2"
                     /inference="alignment:Splign:2.1.0"
     exon            700..3239
                     /gene="APEX2"
                     /gene_synonym="APE2; APEXL2; XTH2; ZGRF2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1930..1935
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APEX2"
                     /gene_synonym="APE2; APEXL2; XTH2; ZGRF2"
                     /note="hexamer: AATAAA"
     polyA_site      1953
                     /gene="APEX2"
                     /gene_synonym="APE2; APEXL2; XTH2; ZGRF2"
                     /note="major polyA site"
     regulatory      3221..3226
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APEX2"
                     /gene_synonym="APE2; APEXL2; XTH2; ZGRF2"
                     /note="hexamer: AATAAA"
     polyA_site      3239
                     /gene="APEX2"
                     /gene_synonym="APE2; APEXL2; XTH2; ZGRF2"
ORIGIN      
        1 aggaagcagt tcgctcgcgc ctaggttggc gcgggctggg aggtgttcca gccctttaag
       61 atgttgcgcg tggtgagctg gaacatcaat gggattcgga gacccctgca aggggtggca
      121 aatcaggaac ccagcaactg tgccgccgtg gccgtggggc gcattttgga cgagctggat
      181 gcggatatcg tctgtctcca ggaaaccaaa gtgaccaggg atgcactgac agagcccctg
      241 gctatcgttg agggttataa ctcctatttc agcttcagcc gcaaccgtag cggctattct
      301 ggtgtagcca ccttctgtaa ggacaatgct accccagtgg ctgctgaaga aggcctgagt
      361 ggcctgtttg ccacccagaa tggggatgtt ggttgctatg gaaacatgga tgagtttacc
      421 caagaggaac tccgggctct ggatagtgag ggcagggccc tcctcacaca gcataagatc
      481 cgcacatggg aaggtaagga gaagaccttg accctaatca acgtgtactg cccccatgcg
      541 gaccctggga ggcctgagcg gctagtcttt aagatgcgct tctatcgttt gctgcaaatc
      601 cgagcagaag ccctcctggc ggcaggcagc catgtgatca ttctgggtga cctgaataca
      661 gcccaccgcc ccattgacca ctgggatgca gtcaacctgg aatgctttga agaggaccca
      721 gggcgcaagt ggatggacag cttgctcagt aacttggggt gccagtctgc ctctcatgta
      781 gggcccttca tcgatagcta ccgctgcttc caaccaaagc aggagggggc cttcacctgc
      841 tggtcagcag tcactggcgc ccgccatctc aactatggct cccggcttga ctatgtgctg
      901 ggggacagga ccctggtcat agacaccttt caggcctctt tcctgctgcc tgaggtgatg
      961 ggctctgacc actgccctgt gggtgcagtc ttgagtgtgt cctctgtgcc tgcaaaacag
     1021 tgcccacctc tgtgcacccg cttcctccct gagtttgcag gcacccagct caagatcctt
     1081 cgcttcctag ttcctctcga acaaagtcct gtgttggagc agtcgacgct gcagcacaac
     1141 aatcaaaccc gggtacagac atgccaaaac aaagcccaag tgcgctcaac caggcctcag
     1201 cccagtcagg ttggctctag cagaggccag aaaaacctga agagctactt tcagccctcc
     1261 cctagctgtc cccaagcctc tcctgacata gagctgccta gcctaccact gatgagcgcc
     1321 ctcatgaccc cgaagactcc agaagagaag gcagtggcca aagtggtgaa ggggcaggcc
     1381 aagacttcag aagccaaaga tgagaaggag ttacggacct cattctggaa gtctgtgctg
     1441 gcggggccct tgcgcacacc cctctgtggg ggccacaggg agccatgtgt gatgcgtact
     1501 gtgaagaagc caggacccaa cttgggccgc cgcttctaca tgtgtgccag gccccggggt
     1561 cctcccactg acccctcctc ccggtgcaac ttcttcctct ggagcaggcc cagctgaacc
     1621 aatggaggcc tggggacatc tggcatggtc acccctgcac atgatctgag gccagctccc
     1681 cttccctgag ctgcctcctg cttctccctc aaagtctcct acccttctct tcctctttta
     1741 agccctctct tcctcgcttt ccttcctacc tagctccttg ttggtgagct tcttgtgcct
     1801 taatcctgtg acccagcccc ttacaccact ttccaccttc ctgtccgaag tacacggaca
     1861 ctagctgccc caggaagttg tgtgatttta aatcacttct gtctttgctg gaaagtgtat
     1921 ttgtgcataa ataaagtctg tgtatttgtt tcagggttgc actttggaca ttgtggaggt
     1981 actccataaa gttgagtcag agaagctatc tcaatacttg gtttgccggc tggctgtagc
     2041 ccaatgatgt aattcccaga gaaaggggag gagggagggg ggaggaggga atagtgaggc
     2101 gtgagcagca gtgctcacca taaagggttc tctgctcagt tgtaggaatt tcctgtacgg
     2161 ctaaggtgaa atcagcaagg aaggtgggct gtgtagcctt aaaccagagc tttccagcta
     2221 gtgcgtccca cagctgccac agtgggttac agggttgaaa gaaacggtcc tcagccctca
     2281 gagttgccag gcagggcctg ggaccacaca agtttcaggg acgattgcct ccttagcaag
     2341 tagtatcatt agtaccccta agtgtgccat ggaaatgttt cctgtatact gtgacctgga
     2401 aagtgggagc attgctttga acacagtgct tgctctagcc aagcctcttc tcacctttga
     2461 aaatgggact ggtagaccag gcacagtggt gcacgcctgt aatcccagca ctttgggagg
     2521 ctgagatggg tggatcacct gaggtcagga gttcgcaacc agcctaacat ggtgagaccc
     2581 cgtctctact aaatacaaaa aaattaactg ggcgtggtgg cgcgtgcctg taatccaagc
     2641 tacttaggag gctgagacag gagaatagct tgtacctggg aggcggaggt tgcagtgggc
     2701 tgagatcatg cattgcactc cagcctgggc aacaagagtg aaattcagtc tccaaaaaaa
     2761 aaaaaagaaa agaaaaagaa tgggactggt aaatcctgtt ctgtgggatg ccgtgggagg
     2821 gagagaggat aatggattga ggaagacatc catatcccct tatggaaaat acctctttgg
     2881 ttttggggaa ccactccttt ctagggaatt tggttagggc tgactcattt cctggcttca
     2941 ggggctaccc tgggcccaga tttccagggc ccggattacc agtgaagcgt caatccctgg
     3001 atttttattg aaaccattgg agaagagcca tctcaaataa atctgccaag tatcctagct
     3061 ctttgcaact cactgtgtag tttttgggca tttccttcct ctttctcatt ctgtttccct
     3121 gttggtaaaa tggaatggtg accaacaagt gacctatggt tacctcatag atctgccact
     3181 tgtctgaggg agtcagaatg cacttgtctg ttccctgtcc aataaaaggc ttcacatgc
//
