LOCUS       NM_033276               3134 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens ATP23 metallopeptidase and ATP synthase assembly
            factor homolog (ATP23), transcript variant 1, mRNA; nuclear gene
            for mitochondrial product.
ACCESSION   NM_033276
VERSION     NM_033276.4
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 3134)
  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 3134)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 3134)
  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 3134)
  AUTHORS   Fischer,U., Rheinheimer,S., Krempler,A., Lobrich,M. and Meese,E.
  TITLE     Glioma-amplified sequence KUB3 influences double-strand break
            repair after ionizing radiation
  JOURNAL   Int J Oncol 43 (1), 50-56 (2013)
   PUBMED   23670597
  REMARK    GeneRIF: The data provide the first evidence for a link between the
            level of KUB3 amplification and expression in glioma and DSB repair
            efficiency.
REFERENCE   5  (bases 1 to 3134)
  AUTHORS   Zeng,X., Neupert,W. and Tzagoloff,A.
  TITLE     The metalloprotease encoded by ATP23 has a dual function in
            processing and assembly of subunit 6 of mitochondrial ATPase
  JOURNAL   Mol Biol Cell 18 (2), 617-626 (2007)
   PUBMED   17135290
REFERENCE   6  (bases 1 to 3134)
  AUTHORS   Fischer,U., Hemmer,D., Heckel,D., Michel,A., Feiden,W.,
            Steudel,W.I., Hulsebos,T. and Meese,E.
  TITLE     KUB3 amplification and overexpression in human gliomas
  JOURNAL   Glia 36 (1), 1-10 (2001)
   PUBMED   11571779
REFERENCE   7  (bases 1 to 3134)
  AUTHORS   Yang,C.R., Yeh,S., Leskov,K., Odegaard,E., Hsu,H.L., Chang,C.,
            Kinsella,T.J., Chen,D.J. and Boothman,D.A.
  TITLE     Isolation of Ku70-binding proteins (KUBs)
  JOURNAL   Nucleic Acids Res 27 (10), 2165-2174 (1999)
   PUBMED   10219089
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BU601924.1, BC012776.2 and
            AC084033.33.
            
            On May 17, 2019 this sequence version replaced NM_033276.3.
            
            Summary: The protein encoded by this gene is amplified in
            glioblastomas and interacts with the DNA binding subunit of
            DNA-dependent protein kinase. This kinase is involved in
            double-strand break repair (DSB), and higher expression of the
            encoded protein increases the efficiency of DSB. In addition,
            comparison to orthologous proteins strongly suggests that this
            protein is a metalloprotease important in the biosynthesis of
            mitochondrial ATPase. Several transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Feb 2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.118076.1, BC012776.2
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000300145.4/ ENSP00000300145.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-95                BU601924.1         67-161
            96-1255             BC012776.2         1-1160
            1256-3134           AC084033.33        133608-135486       c
FEATURES             Location/Qualifiers
     source          1..3134
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q14.1"
     gene            1..3134
                     /gene="ATP23"
                     /gene_synonym="KUB3; XRCC6BP1"
                     /note="ATP23 metallopeptidase and ATP synthase assembly
                     factor homolog"
                     /db_xref="GeneID:91419"
                     /db_xref="HGNC:HGNC:29452"
                     /db_xref="MIM:619760"
     exon            1..322
                     /gene="ATP23"
                     /gene_synonym="KUB3; XRCC6BP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             136..876
                     /gene="ATP23"
                     /gene_synonym="KUB3; XRCC6BP1"
                     /EC_number="3.4.24.-"
                     /note="isoform a is encoded by transcript variant 1;
                     mitochondrial inner membrane protease ATP23 homolog;
                     Ku70-binding protein 3; XRCC6-binding protein 1"
                     /codon_start=1
                     /product="mitochondrial inner membrane protease ATP23
                     homolog isoform a"
                     /protein_id="NP_150592.1"
                     /db_xref="CCDS:CCDS41802.1"
                     /db_xref="GeneID:91419"
                     /db_xref="HGNC:HGNC:29452"
                     /db_xref="MIM:619760"
                     /translation="MAGAPDERRRGPAAGEQLQQQHVSCQVFPERLAQGNPQQGFFSS
                     FFTSNQKCQLRLLKTLETNPYVKLLLDAMKHSGCAVNKDRHFSCEDCNGNVSGGFDAS
                     TSQIVLCQNNIHNQAHMNRVVTHELIHAFDHCRAHVDWFTNIRHLACSEVRAANLSGD
                     CSLVNEIFRLHFGLKQHHQTCVRDRATLSILAVRNISKEVAKKAVDEVFESCFNDHEP
                     FGRIPHNKTYARYAHRDFENRDRYYSNI"
     exon            323..368
                     /gene="ATP23"
                     /gene_synonym="KUB3; XRCC6BP1"
                     /inference="alignment:Splign:2.1.0"
     exon            369..450
                     /gene="ATP23"
                     /gene_synonym="KUB3; XRCC6BP1"
                     /inference="alignment:Splign:2.1.0"
     exon            451..588
                     /gene="ATP23"
                     /gene_synonym="KUB3; XRCC6BP1"
                     /inference="alignment:Splign:2.1.0"
     exon            589..672
                     /gene="ATP23"
                     /gene_synonym="KUB3; XRCC6BP1"
                     /inference="alignment:Splign:2.1.0"
     exon            673..3134
                     /gene="ATP23"
                     /gene_synonym="KUB3; XRCC6BP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1100..1105
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP23"
                     /gene_synonym="KUB3; XRCC6BP1"
                     /note="hexamer: AATAAA"
     polyA_site      1127
                     /gene="ATP23"
                     /gene_synonym="KUB3; XRCC6BP1"
                     /note="major polyA site"
     regulatory      1230..1235
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP23"
                     /gene_synonym="KUB3; XRCC6BP1"
                     /note="hexamer: ATTAAA"
     polyA_site      1255
                     /gene="ATP23"
                     /gene_synonym="KUB3; XRCC6BP1"
     regulatory      1303..1308
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP23"
                     /gene_synonym="KUB3; XRCC6BP1"
                     /note="hexamer: AATAAT"
     polyA_site      1328
                     /gene="ATP23"
                     /gene_synonym="KUB3; XRCC6BP1"
     regulatory      1417..1422
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP23"
                     /gene_synonym="KUB3; XRCC6BP1"
                     /note="hexamer: AATAAA"
     polyA_site      1440
                     /gene="ATP23"
                     /gene_synonym="KUB3; XRCC6BP1"
ORIGIN      
        1 agcccagcca ggctgccctt cttccctgcg gagggagggc ctgggcggtc gcgttggcgg
       61 gagggaggtt acctttccca gtctcgctct ggccgcctga gccaggagga agcagcggcg
      121 aggtctgcgg gaggcatggc gggagctccg gacgagcgcc ggcggggccc cgcggcaggg
      181 gagcagctgc agcagcaaca cgtctcttgc caggtcttcc ccgagcgtct ggcccagggg
      241 aatccccagc aagggttctt ctccagcttc ttcaccagca accagaagtg ccagcttagg
      301 ctcctgaaga cgctggagac aaatccatat gtcaaacttc tgcttgatgc tatgaaacac
      361 tcaggttgtg ctgttaacaa agatagacac ttttcttgcg aagactgtaa tggaaatgtc
      421 agtggaggtt ttgatgcttc aacatctcag atagttttgt gccagaataa tatccataat
      481 caggcccata tgaacagagt ggtcacacac gagcttattc atgcatttga tcattgtcgt
      541 gcccatgtcg actggttcac caacatcaga catttggcgt gctcagaggt tcgagctgct
      601 aaccttagtg gagactgctc acttgtcaat gaaatattca ggttacattt tggattaaaa
      661 caacaccacc agacttgtgt gcgagacaga gccactcttt ctatcctggc tgttaggaat
      721 atcagcaaag aagtagctaa aaaggctgtt gatgaagttt ttgaatcttg tttcaatgac
      781 catgaacctt ttggaaggat cccacataac aagacttatg caagatatgc tcacagagac
      841 tttgaaaacc gtgatcggta ttattcaaat atatgagcac aatgacattt ttatattaca
      901 gagcttccat catcatgaag aaaaaaaaat ttggttctca agtgaacaaa catataaaat
      961 gtaaacaatc cctacaatcc agataaaaca gagaagactg tgattctagc atattatcag
     1021 aaaaagtaac tatggcaaaa aatgaaactg ctttaaactc caaggcagaa attgtatctt
     1081 tatagctaac catttagtaa ataaatacat tacatttttg tattttagtc atttgttttt
     1141 attacatgtg attattttaa aatttgatta tgaaacctgt gaagtgtgct cttccatgat
     1201 gttgataggt gaccactgtt ggtatttaca ttaaatgtaa agaaatgtgt actgatctca
     1261 ttgtaggata cttattgagc tgttgttatg atgaaaattg gaaataattc attcagtggt
     1321 caatgctatc ctctccctat tcttctttta tcatatatgt gggacccata tggcctaatt
     1381 ttctggggac agtcctggtt agatcttttt ctttttaata aaggcagtgc tcgaatttta
     1441 gctccagatc gactgcaaga acaaaccagc aatactgaga ggacccacag accctctgaa
     1501 ggaagcgact gctcctacag tgcccaggag acaccccaaa tactgtgagt gcccaactgc
     1561 agaagtggga aagggagacc ctcctctccc acacacaccc ccccactgga gaaactgaag
     1621 gtctgtttgt gggagaagtt tccgacctta cctggagctg agttaattta gagagccgag
     1681 cgaaatacag gggtagagca agcagcagga aggcccaggg agctcgctgg gtccccaagc
     1741 agcccattcc tgcctgtcac cacagagatc cattgcaagg gcagccagaa gagcagcggg
     1801 taaaactcca cagggagaag gacatctcta gctgaacttt gtaactattt caatggggca
     1861 agaagcctcc cggccagaac ttgggagagg gcacaaatcc catgtgcaga atccacagag
     1921 gggaagaacc aagctctttt ctttcacagc tgggaggtgg gtagcctggg gcaagttttc
     1981 aagcctgtct cacccaccac ctggaagcag acttggggct gtggtggggg gcatggtggg
     2041 agtgagactg gcccttcggc ttgtgtggga gctgggtgag gcctgtgact gccggctttc
     2101 ccctacttcc ctgacaacct gcatgactcc ccagaggcag tcataatcct cctagggaca
     2161 caactccagt gacctgggaa tctcaccctc atctcccaca acagtcacag caagacctgc
     2221 ccaaggagag tctgagctca gacatgtcta tccctgcccc gacctgatgt tccttcccta
     2281 cccaccctgg tatctgaaca aaaagggcat acaatcttgg gagttctagg gccccactca
     2341 ccacaagttc ttctccatac taccacaact gatgctctct ggaaagcgct acctcctggc
     2401 aggaggccag ccagcacaaa aatagagcct tcaaccacca aagctaagaa ccctcatgga
     2461 gtccattgca ccccccctgc cacctccact ggaacaggtg ctggtatcca cagccgagag
     2521 acccatagac ggttcacatc acaggattct gtgcaggcaa cccccagtac cagcatggag
     2581 ctgggtagac tcactgggtg gctagaccca gaagagagac aacaatcaca gcagtttggc
     2641 ttacaggaag ccacatccat cggaaaaggg ggagggtata catcaaggga acaccctgtg
     2701 ggacaaagga acctgaacaa tggccttcag ccctagacct tccctttgac agagactacc
     2761 caaatgagaa ggaaccagaa aactaaccct ggtaatatga caaaacaaaa gctctttaac
     2821 acccacaaaa aaatcacact agttcaccag caatggattc aaaccaagaa gaaatccctg
     2881 atttacctga aaaagaattc aggaggttag ttattaagct aatcagggag gcaccagaga
     2941 aaggcaaagc ccagtgcaag gaaatccaaa aaatgatata agaagtgaag ggagaaatat
     3001 tcaaggaaat ggagagctta aagaaaaaag aataaaaaat tcaggaaact ttggacacac
     3061 ttttagaaat gcaaaatgct ctggaaaatc tcagcaatag aattgaacaa gtagaagaaa
     3121 gaaattcaga gctt
//
