LOCUS       NM_005107               3076 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens exo/endonuclease G (EXOG), transcript variant 1, mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_005107
VERSION     NM_005107.4
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 3076)
  AUTHORS   Szymanski,M.R., Karlowicz,A., Herrmann,G.K., Cen,Y. and Yin,Y.W.
  TITLE     Human EXOG Possesses Strong AP Hydrolysis Activity: Implication on
            Mitochondrial DNA Base Excision Repair
  JOURNAL   J Am Chem Soc 144 (51), 23543-23550 (2022)
   PUBMED   36516439
  REMARK    GeneRIF: Human EXOG Possesses Strong AP Hydrolysis Activity:
            Implication on Mitochondrial DNA Base Excision Repair.
REFERENCE   2  (bases 1 to 3076)
  AUTHORS   Karlowicz,A., Dubiel,A.B., Czerwinska,J., Bledea,A., Purzycki,P.,
            Grzelewska,M., McAuley,R.J., Szczesny,R.J., Brzuska,G., Krol,E.,
            Szczesny,B. and Szymanski,M.R.
  TITLE     In vitro reconstitution reveals a key role of human mitochondrial
            EXOG in RNA primer processing
  JOURNAL   Nucleic Acids Res 50 (14), 7991-8007 (2022)
   PUBMED   35819194
  REMARK    GeneRIF: In vitro reconstitution reveals a key role of human
            mitochondrial EXOG in RNA primer processing.
REFERENCE   3  (bases 1 to 3076)
  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   4  (bases 1 to 3076)
  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   5  (bases 1 to 3076)
  AUTHORS   Wu,C.C., Lin,J.L.J., Yang-Yen,H.F. and Yuan,H.S.
  TITLE     A unique exonuclease ExoG cleaves between RNA and DNA in
            mitochondrial DNA replication
  JOURNAL   Nucleic Acids Res 47 (10), 5405-5419 (2019)
   PUBMED   30949702
  REMARK    GeneRIF: ExoG has a role as a unique 5'-exonuclease to mediate the
            flap-independent RNA primer removal process during mtDNA
            replication to maintain mitochondrial genome integrity
REFERENCE   6  (bases 1 to 3076)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3076)
  AUTHORS   Cymerman,I.A., Chung,I., Beckmann,B.M., Bujnicki,J.M. and Meiss,G.
  TITLE     EXOG, a novel paralog of Endonuclease G in higher eukaryotes
  JOURNAL   Nucleic Acids Res 36 (4), 1369-1379 (2008)
   PUBMED   18187503
  REMARK    GeneRIF: Human endonuclease G-like-1 is a dimeric mitochondrial
            enzyme that displays 5'-3' exonuclease activity and further differs
            from EndoG in substrate specificity
REFERENCE   8  (bases 1 to 3076)
  AUTHORS   Moritani,M., Nomura,K., Tanahashi,T., Osabe,D., Fujita,Y.,
            Shinohara,S., Yamaguchi,Y., Keshavarz,P., Kudo,E., Nakamura,N.,
            Yoshikawa,T., Ichiishi,E., Takata,Y., Yasui,N., Shiota,H.,
            Kunika,K., Inoue,H. and Itakura,M.
  TITLE     Genetic association of single nucleotide polymorphisms in
            endonuclease G-like 1 gene with type 2 diabetes in a Japanese
            population
  JOURNAL   Diabetologia 50 (6), 1218-1227 (2007)
   PUBMED   17415550
  REMARK    GeneRIF: ENDOGL1 is a candidate disease-susceptibility gene for
            type 2 diabetes in a Japanese population
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 3076)
  AUTHORS   Girard,A., Sachidanandam,R., Hannon,G.J. and Carmell,M.A.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   10 (bases 1 to 3076)
  AUTHORS   Daigo,Y., Isomura,M., Nishiwaki,T., Tamari,M., Ishikawa,S., Kai,M.,
            Murata,Y., Takeuchi,K., Yamane,Y., Hayashi,R., Minami,M.,
            Fujino,M.A., Hojo,Y., Uchiyama,I., Takagi,T. and Nakamura,Y.
  TITLE     Characterization of a 1200-kb genomic segment of chromosome
            3p22-p21.3
  JOURNAL   DNA Res 6 (1), 37-44 (1999)
   PUBMED   10231028
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK290107.1, AB020523.1,
            AK301067.1, AP006241.1 and AA993872.1.
            
            On Nov 22, 2018 this sequence version replaced NM_005107.3.
            
            Summary: This gene encodes an endo/exonuclease with 5'-3'
            exonuclease activity. The encoded enzyme catalyzes the hydrolysis
            of ester linkages at the 5' end of a nucleic acid chain. This
            enzyme is localized to the mitochondria and may play a role in
            programmed cell death. Alternatively spliced transcript variants
            have been described. A pseudogene exists on chromosome 18.
            [provided by RefSeq, Feb 2009].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: SRR1803612.15394.1,
                                           SRR1660809.103462.1 [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                 :: ENST00000287675.10/
                                                  ENSP00000287675.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AK290107.1         69-70
            3-857               AB020523.1         2-856
            858-1472            AK301067.1         705-1319
            1473-3039           AP006241.1         32880-34446
            3040-3076           AA993872.1         7-43                c
FEATURES             Location/Qualifiers
     source          1..3076
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.2"
     gene            1..3076
                     /gene="EXOG"
                     /gene_synonym="ENDOGL1; ENDOGL2; ENGL; ENGL-a; ENGL-b;
                     ENGLA; ENGLB"
                     /note="exo/endonuclease G"
                     /db_xref="GeneID:9941"
                     /db_xref="HGNC:HGNC:3347"
                     /db_xref="MIM:604051"
     exon            1..191
                     /gene="EXOG"
                     /gene_synonym="ENDOGL1; ENDOGL2; ENGL; ENGL-a; ENGL-b;
                     ENGLA; ENGLB"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..1135
                     /gene="EXOG"
                     /gene_synonym="ENDOGL1; ENDOGL2; ENGL; ENGL-a; ENGL-b;
                     ENGLA; ENGLB"
                     /EC_number="3.1.30.-"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; endonuclease G-like 2; endonuclease G-like 1;
                     nuclease EXOG, mitochondrial; endo G-like 1;
                     endo/exonuclease (5'-3'), endonuclease G-like"
                     /codon_start=1
                     /product="nuclease EXOG, mitochondrial isoform 1
                     precursor"
                     /protein_id="NP_005098.2"
                     /db_xref="CCDS:CCDS2680.1"
                     /db_xref="GeneID:9941"
                     /db_xref="HGNC:HGNC:3347"
                     /db_xref="MIM:604051"
                     /translation="MAIKSIASRLRGSRRFLSGFVAGAVVGAAGAGLAALQFFRSQGA
                     EGALTGKQPDGSAEKAVLEQFGFPLTGTEARCYTNHALSYDQAKRVPRWVLEHISKSK
                     IMGDADRKHCKFKPDPNIPPTFSAFNEDYVGSGWSRGHMAPAGNNKFSSKAMAETFYL
                     SNIVPQDFDNNSGYWNRIEMYCRELTERFEDVWVVSGPLTLPQTRGDGKKIVSYQVIG
                     EDNVAVPSHLYKVILARRSSVSTEPLALGAFVVPNEAIGFQPQLTEFQVSLQDLEKLS
                     GLVFFPHLDRTSDIRNICSVDTCKLLDFQEFTLYLSTRKIEGARSVLRLEKIMENLKN
                     AEIEPDDYFMSRYEKKLEELKAKEQSGTQIRKPS"
     exon            192..341
                     /gene="EXOG"
                     /gene_synonym="ENDOGL1; ENDOGL2; ENGL; ENGL-a; ENGL-b;
                     ENGLA; ENGLB"
                     /inference="alignment:Splign:2.1.0"
     exon            342..481
                     /gene="EXOG"
                     /gene_synonym="ENDOGL1; ENDOGL2; ENGL; ENGL-a; ENGL-b;
                     ENGLA; ENGLB"
                     /inference="alignment:Splign:2.1.0"
     exon            482..558
                     /gene="EXOG"
                     /gene_synonym="ENDOGL1; ENDOGL2; ENGL; ENGL-a; ENGL-b;
                     ENGLA; ENGLB"
                     /inference="alignment:Splign:2.1.0"
     exon            559..673
                     /gene="EXOG"
                     /gene_synonym="ENDOGL1; ENDOGL2; ENGL; ENGL-a; ENGL-b;
                     ENGLA; ENGLB"
                     /inference="alignment:Splign:2.1.0"
     exon            674..3076
                     /gene="EXOG"
                     /gene_synonym="ENDOGL1; ENDOGL2; ENGL; ENGL-a; ENGL-b;
                     ENGLA; ENGLB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1875..1880
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EXOG"
                     /gene_synonym="ENDOGL1; ENDOGL2; ENGL; ENGL-a; ENGL-b;
                     ENGLA; ENGLB"
                     /note="hexamer: ATTAAA"
     polyA_site      1898
                     /gene="EXOG"
                     /gene_synonym="ENDOGL1; ENDOGL2; ENGL; ENGL-a; ENGL-b;
                     ENGLA; ENGLB"
                     /note="major polyA site"
     regulatory      3055..3060
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EXOG"
                     /gene_synonym="ENDOGL1; ENDOGL2; ENGL; ENGL-a; ENGL-b;
                     ENGLA; ENGLB"
                     /note="hexamer: GATAAA"
     polyA_site      3076
                     /gene="EXOG"
                     /gene_synonym="ENDOGL1; ENDOGL2; ENGL; ENGL-a; ENGL-b;
                     ENGLA; ENGLB"
                     /note="major polyA site"
ORIGIN      
        1 gtggtaaaag gccggtacct cgggcaagat ggctatcaag agtatcgctt cccgcctccg
       61 gggttcccgt cgttttctga gcggcttcgt ggctggggct gtagtgggcg ctgcgggagc
      121 tgggctcgcg gccctgcagt tcttccggag tcagggcgct gagggagcgt tgacagggaa
      181 gcagccggat ggatctgcag aaaaggctgt cttggaacaa tttggattcc ctttaactgg
      241 aacagaggca aggtgttaca ctaatcacgc tttgtcttat gatcaggcaa agcgggtgcc
      301 tagatgggtt cttgaacata tttccaaaag caagataatg ggtgatgcag acagaaagca
      361 ttgtaaattt aagcctgatc ccaatatccc tccaaccttc agtgccttca atgaagatta
      421 tgttggaagt gggtggtcac gaggacacat ggctccagca ggaaataaca aattttcaag
      481 taaagccatg gctgaaacct tttacctttc taacattgtg cctcaggatt ttgataataa
      541 ttctggatat tggaacagaa tagaaatgta ctgtcgagag ctgacagaaa ggtttgaaga
      601 tgtttgggtg gtatctgggc ctttgacctt acctcagact agaggcgatg gaaagaaaat
      661 agttagttac caggtgattg gcgaggacaa cgtggcagtc ccctcacacc tttataaggt
      721 aatcctggcc cgcagaagct cagtatctac cgaaccactg gcgctagggg cctttgtggt
      781 acccaatgaa gccatcggct tccagcccca gttaactgaa ttccaagtga gcctccagga
      841 cctagagaag ttgtcaggac tggtgttttt tcctcatttg gatagaacta gtgatatccg
      901 gaatatctgc tctgtggaca cctgtaagct cctggatttc caggagttca ccttgtactt
      961 gagtacaaga aagattgaag gagcccgatc agtgctcaga ctggaaaaga tcatggaaaa
     1021 cttgaagaat gcagagattg aaccagatga ttactttatg agtcgctatg agaagaagct
     1081 agaagaactc aaagctaagg agcagtcagg aacccagata agaaagccat cctagttttt
     1141 atctcaagat gtgtcatacc gtctgtaatg aagcaggcat gccctcttta ggctaacata
     1201 ttttagtggc tttgcttttt gctttttaaa aagtttttct ctttaagaga tgtggtctcg
     1261 ccgtgtcatc caggctggag tgcagtggtg gaatcatagc tcactatagc ctcaaacttc
     1321 tgggcttaag caatcctcct gcctctgccc cctgagcagc tgggactaca ggcacacacc
     1381 atcaccctca gctactagtg gctttgcttt aaagaaacag tggaatccta aatttatgac
     1441 taaaaattcc cccaaaagat gaaagatcta caatgttttt gtcagtatta tatttgactc
     1501 aggaactaat tattaaggga gctttgacac ctgcagatgg agggctgatc ttgtgtcaag
     1561 ttaacaggaa gactgcccac agatgacact gcatttgtat ccctgtggat gtagagtatt
     1621 gggaaggcat ttgtttagtt tcatgcctcc aaaccatgca ttgtctgtga tgtatctgcc
     1681 cagccttctc agaactcaat gttgtacatt tttccctcta ggacctgaat tggtcttgga
     1741 ggcagctttt agaaatcctc tgtgtagttc ctgtccacat gcactatata tttgtttctt
     1801 ttttctcctc tcatgaatct gctcgtttct ctacttctgt ctacgtagaa gcactcagca
     1861 actagtttct gctcattaaa tgtgttctat atactaggct cagtgcttta catgtgttgt
     1921 ctcacaatga ctctctgagg taaatacact atccccattt tacctgtgag aaaattgagg
     1981 cttagagagc ttagtgtctt acctgagttt cacttttcca aagtagtcat ccacaaagta
     2041 tgaggcagac agatctaaga gaagaaagac agctgaggta gattcaaatc ttttctgaca
     2101 tggatggtgg ctttttactc agaaatatat acctatttcc atgggtattt gtgggcctga
     2161 ggcatgcttg gcaagaagag tctggtttct cgtctgctat gcaagccaaa gggactttaa
     2221 tgttctttga attgaaccct ccttagctct gtggaaagag acagtcagga atatttggga
     2281 attagacggc aatactttgt ggggtttatt agagcccatg cttgcctcca gagatacagt
     2341 tcttttagtg accagatact gccaaattga tgtgttcttg ctttccaggt gagctttttg
     2401 ttcttaagat taagaaacct atgaaggatc tgcagccagg catggtggct caggcctata
     2461 atctcagcac tttgggaaat cgaggtgggt ggatcgcttg agcccaggag tttgagacca
     2521 gcctgggcaa cataatgaaa ccctatcttt acaaaaaaat acaaaaatta gctgggcgtg
     2581 gtggtgcaca cctgtagtcc cagctactcg ggaggctgaa atgggaggat tgcttgagcc
     2641 tggcaggtca aggctgcgat gggacatggt catgccactg gacgccagcc tgggccacag
     2701 agggagaccc tgtctcaaaa aaagaaaaga aaaaagaaaa aggtctgccc acaaaatcac
     2761 tagcttatta tttgcttcct gtgtgcctgc ttgtctacct agcatagtag gccaaaggtc
     2821 caaaggcatt tagcattcct aggggaaatt gtggctgttt ttctgagcca gatctcttga
     2881 tttgggttta cacggagtcc tttcatggac tatcctgagt attgtcagta aaacgtcttg
     2941 gggcataaga acttgtctga atctgtcata cataccactg ctgtcttttc cgagtggtat
     3001 tacaagaaag atttttgtgg tgtgtttgtt ctaagagaaa tgccaaggct ttcagataaa
     3061 gataagatga taatga
//
