LOCUS       NM_001641               1453 bp    mRNA    linear   PRI 12-AUG-2024
DEFINITION  Homo sapiens apurinic/apyrimidinic endodeoxyribonuclease 1 (APEX1),
            transcript variant 1, mRNA.
ACCESSION   NM_001641
VERSION     NM_001641.4
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 1453)
  AUTHORS   Vemulapalli,S., Hashemi,M., Chen,Y., Pramanik,S., Bhakat,K.K. and
            Lyubchenko,Y.L.
  TITLE     Nanoscale Interaction of Endonuclease APE1 with DNA
  JOURNAL   Int J Mol Sci 25 (10), 5145 (2024)
   PUBMED   38791183
  REMARK    GeneRIF: Nanoscale Interaction of Endonuclease APE1 with DNA.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1453)
  AUTHORS   Cao,X., Zheng,J., Zhang,R., Sun,Y. and Zhao,M.
  TITLE     Live-cell imaging of human apurinic/apyrimidinic endonuclease 1 in
            the nucleus and nucleolus using a chaperone@DNA probe
  JOURNAL   Nucleic Acids Res 52 (8), e41 (2024)
   PUBMED   38554110
  REMARK    GeneRIF: Live-cell imaging of human apurinic/apyrimidinic
            endonuclease 1 in the nucleus and nucleolus using a chaperone@DNA
            probe.
REFERENCE   3  (bases 1 to 1453)
  AUTHORS   Du,Y., Zhou,Y., Yan,X., Pan,F., He,L., Guo,Z. and Hu,Z.
  TITLE     APE1 inhibition enhances ferroptotic cell death and contributes to
            hepatocellular carcinoma therapy
  JOURNAL   Cell Death Differ 31 (4), 431-446 (2024)
   PUBMED   38418695
  REMARK    GeneRIF: APE1 inhibition enhances ferroptotic cell death and
            contributes to hepatocellular carcinoma therapy.
REFERENCE   4  (bases 1 to 1453)
  AUTHORS   Mao,S., Xie,C., Liu,Y., Zhao,Y., Li,M., Gao,H., Xiao,Y., Zou,Y.,
            Zheng,Z., Gao,Y., Xie,J., Tian,B., Wang,L., Hua,Y. and Xu,H.
  TITLE     Apurinic/apyrimidinic endodeoxyribonuclease 1 (APE1) promotes
            stress granule formation via YBX1 phosphorylation in ovarian cancer
  JOURNAL   Cell Mol Life Sci 81 (1), 113 (2024)
   PUBMED   38436697
  REMARK    GeneRIF: Apurinic/apyrimidinic endodeoxyribonuclease 1 (APE1)
            promotes stress granule formation via YBX1 phosphorylation in
            ovarian cancer.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1453)
  AUTHORS   Rostami,M., Yalin,S.F., Altiparmak,M.R. and Guven,M.
  TITLE     Investigation of APE1 and OGG1 expression in chronic hemodialysis
            patients
  JOURNAL   Mol Biol Rep 51 (1), 144 (2024)
   PUBMED   38236479
  REMARK    GeneRIF: Investigation of APE1 and OGG1 expression in chronic
            hemodialysis patients.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1453)
  AUTHORS   Harrison,L., Ascione,G., Menninger,J.C., Ward,D.C. and Demple,B.
  TITLE     Human apurinic endonuclease gene (APE): structure and genomic
            mapping (chromosome 14q11.2-12)
  JOURNAL   Hum Mol Genet 1 (9), 677-680 (1992)
   PUBMED   1284593
REFERENCE   7  (bases 1 to 1453)
  AUTHORS   Robson,C.N., Hochhauser,D., Craig,R., Rack,K., Buckle,V.J. and
            Hickson,I.D.
  TITLE     Structure of the human DNA repair gene HAP1 and its localisation to
            chromosome 14q 11.2-12
  JOURNAL   Nucleic Acids Res 20 (17), 4417-4421 (1992)
   PUBMED   1383925
REFERENCE   8  (bases 1 to 1453)
  AUTHORS   Xanthoudakis,S., Miao,G., Wang,F., Pan,Y.C. and Curran,T.
  TITLE     Redox activation of Fos-Jun DNA binding activity is mediated by a
            DNA repair enzyme
  JOURNAL   EMBO J 11 (9), 3323-3335 (1992)
   PUBMED   1380454
REFERENCE   9  (bases 1 to 1453)
  AUTHORS   Zhao,B., Grandy,D.K., Hagerup,J.M., Magenis,R.E., Smith,L.,
            Chauhan,B.C. and Henner,W.D.
  TITLE     The human gene for apurinic/apyrimidinic endonuclease (HAP1):
            sequence and localization to chromosome 14 band q12
  JOURNAL   Nucleic Acids Res 20 (15), 4097-4098 (1992)
   PUBMED   1380694
REFERENCE   10 (bases 1 to 1453)
  AUTHORS   Cheng,X.B., Bunville,J. and Patterson,T.A.
  TITLE     Nucleotide sequence of a cDNA for an apurinic/apyrimidinic
            endonuclease from HeLa cells
  JOURNAL   Nucleic Acids Res 20 (2), 370 (1992)
   PUBMED   1371347
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK291100.1 and AI554786.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001641.3.
            
            Summary: 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].
            
            Transcript Variant: This variant (1) contains the full-length first
            exon and is the longest transcript.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1163655.441507.1,
                                           SRR3476690.1071603.1 [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. :: inferred from homology
            MANE Ensembl match                 :: ENST00000216714.8/
                                                  ENSP00000216714.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1452              AK291100.1         5-1456
            1453-1453           AI554786.1         16-16               c
FEATURES             Location/Qualifiers
     source          1..1453
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..1453
                     /gene="APEX1"
                     /gene_synonym="APE; APE1; APEN; APEX; APX; HAP1; REF1"
                     /note="apurinic/apyrimidinic endodeoxyribonuclease 1"
                     /db_xref="GeneID:328"
                     /db_xref="HGNC:HGNC:587"
                     /db_xref="MIM:107748"
     exon            1..169
                     /gene="APEX1"
                     /gene_synonym="APE; APE1; APEN; APEX; APX; HAP1; REF1"
                     /inference="alignment:Splign:2.1.0"
     exon            170..295
                     /gene="APEX1"
                     /gene_synonym="APE; APE1; APEN; APEX; APX; HAP1; REF1"
                     /inference="alignment:Splign:2.1.0"
     CDS             238..1194
                     /gene="APEX1"
                     /gene_synonym="APE; APE1; APEN; APEX; APX; HAP1; REF1"
                     /EC_number="3.1.11.2"
                     /note="AP endonuclease class I; deoxyribonuclease
                     (apurinic or apyrimidinic); AP lyase; DNA-(apurinic or
                     apyrimidinic site) lyase; apurinic/apyrimidinic (abasic)
                     endonuclease; protein REF-1; apurinic-apyrimidinic
                     endonuclease 1; redox factor-1; APEX nuclease
                     (multifunctional DNA repair enzyme) 1; DNA-(apurinic or
                     apyrimidinic site) endonuclease"
                     /codon_start=1
                     /product="DNA repair nuclease/redox regulator APEX1"
                     /protein_id="NP_001632.2"
                     /db_xref="CCDS:CCDS9550.1"
                     /db_xref="GeneID:328"
                     /db_xref="HGNC:HGNC:587"
                     /db_xref="MIM:107748"
                     /translation="MPKRGKKGAVAEDGDELRTEPEAKKSKTAAKKNDKEAAGEGPAL
                     YEDPPDQKTSPSGKPATLKICSWNVDGLRAWIKKKGLDWVKEEAPDILCLQETKCSEN
                     KLPAELQELPGLSHQYWSAPSDKEGYSGVGLLSRQCPLKVSYGIGDEEHDQEGRVIVA
                     EFDSFVLVTAYVPNAGRGLVRLEYRQRWDEAFRKFLKGLASRKPLVLCGDLNVAHEEI
                     DLRNPKGNKKNAGFTPQERQGFGELLQAVPLADSFRHLYPNTPYAYTFWTYMMNARSK
                     NVGWRLDYFLLSHSLLPALCDSKIRSKALGSDHCPITLYLAL"
     exon            296..483
                     /gene="APEX1"
                     /gene_synonym="APE; APE1; APEN; APEX; APX; HAP1; REF1"
                     /inference="alignment:Splign:2.1.0"
     exon            484..676
                     /gene="APEX1"
                     /gene_synonym="APE; APE1; APEN; APEX; APX; HAP1; REF1"
                     /inference="alignment:Splign:2.1.0"
     exon            677..1453
                     /gene="APEX1"
                     /gene_synonym="APE; APE1; APEN; APEX; APX; HAP1; REF1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1434..1439
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APEX1"
                     /gene_synonym="APE; APE1; APEN; APEX; APX; HAP1; REF1"
                     /note="hexamer: AATAAA"
     polyA_site      1453
                     /gene="APEX1"
                     /gene_synonym="APE; APE1; APEN; APEX; APX; HAP1; REF1"
                     /note="major polyA site"
ORIGIN      
        1 cttctttgtg ctcgggttag gaggagctag gctgccatcg ggccggtgca gatacggggt
       61 tgctcttttg ctcataagag gggcttcgct ggcagtctga acggcaagct tgagtcagga
      121 cccttaatta agatcctcaa ttggctggag ggcagatctc gcgagtaggg caacgcggta
      181 aaaatattgc ttcggtgggt gacgcggtac agctgcccaa gggcgttcgt aacgggaatg
      241 ccgaagcgtg ggaaaaaggg agcggtggcg gaagacgggg atgagctcag gacagagcca
      301 gaggccaaga agagtaagac ggccgcaaag aaaaatgaca aagaggcagc aggagagggc
      361 ccagccctgt atgaggaccc cccagatcag aaaacctcac ccagtggcaa acctgccaca
      421 ctcaagatct gctcttggaa tgtggatggg cttcgagcct ggattaagaa gaaaggatta
      481 gattgggtaa aggaagaagc cccagatata ctgtgccttc aagagaccaa atgttcagag
      541 aacaaactac cagctgaact tcaggagctg cctggactct ctcatcaata ctggtcagct
      601 ccttcggaca aggaagggta cagtggcgtg ggcctgcttt cccgccagtg cccactcaaa
      661 gtttcttacg gcataggcga tgaggagcat gatcaggaag gccgggtgat tgtggctgaa
      721 tttgactcgt ttgtgctggt aacagcatat gtacctaatg caggccgagg tctggtacga
      781 ctggagtacc ggcagcgctg ggatgaagcc tttcgcaagt tcctgaaggg cctggcttcc
      841 cgaaagcccc ttgtgctgtg tggagacctc aatgtggcac atgaagaaat tgaccttcgc
      901 aaccccaagg ggaacaaaaa gaatgctggc ttcacgccac aagagcgcca aggcttcggg
      961 gaattactgc aggctgtgcc actggctgac agctttaggc acctctaccc caacacaccc
     1021 tatgcctaca ccttttggac ttatatgatg aatgctcgat ccaagaatgt tggttggcgc
     1081 cttgattact ttttgttgtc ccactctctg ttacctgcat tgtgtgacag caagatccgt
     1141 tccaaggccc tcggcagtga tcactgtcct atcaccctat acctagcact gtgacaccac
     1201 ccctaaatca ctttgagcct gggaaataag ccccctcaac taccattcct tctttaaaca
     1261 ctcttcagag aaatctgcat tctatttctc atgtataaaa ctaggaatcc tccaaccagg
     1321 ctcctgtgat agagttcttt taagcccaag attttttatt tgagggtttt ttgtttttta
     1381 aaaaaaaatt gaacaaagac tactaatgac tttgtttgaa ttatccacat gaaaataaag
     1441 agccatagtt tca
//
