LOCUS       NM_001697                756 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens ATP synthase peripheral stalk subunit OSCP (ATP5PO),
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001697
VERSION     NM_001697.3
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 756)
  AUTHORS   Ganapathi,M., Friocourt,G., Gueguen,N., Friederich,M.W., Le Gac,G.,
            Okur,V., Loaec,N., Ludwig,T., Ka,C., Tanji,K., Marcorelles,P.,
            Theodorou,E., Lignelli-Dipple,A., Voisset,C., Walker,M.A.,
            Briere,L.C., Bourhis,A., Blondel,M., LeDuc,C., Hagen,J., Cooper,C.,
            Muraresku,C., Ferec,C., Garenne,A., Lelez-Soquet,S., Rogers,C.A.,
            Shen,Y., Strode,D.K., Bizargity,P., Iglesias,A., Goldstein,A.,
            High,F.A., Network,U.D., Sweetser,D.A., Ganetzky,R., Van
            Hove,J.L.K., Procaccio,V., Le Marechal,C. and Chung,W.K.
  TITLE     A homozygous splice variant in ATP5PO, disrupts mitochondrial
            complex V function and causes Leigh syndrome in two unrelated
            families
  JOURNAL   J Inherit Metab Dis 45 (5), 996-1012 (2022)
   PUBMED   35621276
  REMARK    GeneRIF: A homozygous splice variant in ATP5PO, disrupts
            mitochondrial complex V function and causes Leigh syndrome in two
            unrelated families.
REFERENCE   2  (bases 1 to 756)
  AUTHORS   Yang,W., Zhang,K., Zhang,Z., Zhou,J., Li,L., Xu,Y., Qiu,J., Cai,L.,
            Gong,Y. and Gong,K.
  TITLE     Claudin-10 overexpression suppresses human clear cell renal cell
            carcinoma growth and metastasis by regulating ATP5O and causing
            mitochondrial dysfunction
  JOURNAL   Int J Biol Sci 18 (6), 2329-2344 (2022)
   PUBMED   35414767
  REMARK    GeneRIF: Claudin-10 overexpression suppresses human clear cell
            renal cell carcinoma growth and metastasis by regulating ATP5O and
            causing mitochondrial dysfunction.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 756)
  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 756)
  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   5  (bases 1 to 756)
  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   6  (bases 1 to 756)
  AUTHORS   Gevaert,K., Goethals,M., Martens,L., Van Damme,J., Staes,A.,
            Thomas,G.R. and Vandekerckhove,J.
  TITLE     Exploring proteomes and analyzing protein processing by mass
            spectrometric identification of sorted N-terminal peptides
  JOURNAL   Nat Biotechnol 21 (5), 566-569 (2003)
   PUBMED   12665801
REFERENCE   7  (bases 1 to 756)
  AUTHORS   Aggeler,R., Coons,J., Taylor,S.W., Ghosh,S.S., Garcia,J.J.,
            Capaldi,R.A. and Marusich,M.F.
  TITLE     A functionally active human F1F0 ATPase can be purified by
            immunocapture from heart tissue and fibroblast cell lines. Subunit
            structure and activity studies
  JOURNAL   J Biol Chem 277 (37), 33906-33912 (2002)
   PUBMED   12110673
  REMARK    GeneRIF: Human mitochondrial F(1)F(0) ATP synthase was isolated
            with a one-step immunological approach.
REFERENCE   8  (bases 1 to 756)
  AUTHORS   Chen,H., Morris,M.A., Rossier,C., Blouin,J.L. and Antonarakis,S.E.
  TITLE     Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O)
            by exon trapping and mapping to chromosome 21q22.1-q22.2
  JOURNAL   Genomics 28 (3), 470-476 (1995)
   PUBMED   7490082
REFERENCE   9  (bases 1 to 756)
  AUTHORS   Salesiotis,A.N., Wang,C.K., Wang,C.D., Burger,A., Li,H. and Seth,A.
  TITLE     Identification of novel genes from stomach cancer cell lines by
            differential display
  JOURNAL   Cancer Lett 91 (1), 47-54 (1995)
   PUBMED   7750094
REFERENCE   10 (bases 1 to 756)
  AUTHORS   Boyer,P.D., Cross,R.L. and Momsen,W.
  TITLE     A new concept for energy coupling in oxidative phosphorylation
            based on a molecular explanation of the oxygen exchange reactions
  JOURNAL   Proc Natl Acad Sci U S A 70 (10), 2837-2839 (1973)
   PUBMED   4517936
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AV734214.1, CD174837.1,
            AW518473.1 and AF088071.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001697.2.
            
            Summary: The protein encoded by this gene is a component of the
            F-type ATPase found in the mitochondrial matrix. F-type ATPases are
            composed of a catalytic core and a membrane proton channel. The
            encoded protein appears to be part of the connector linking these
            two components and may be involved in transmission of
            conformational changes or proton conductance. [provided by RefSeq,
            Jul 2008].
            
            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 :: CR982886.1, AK222608.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000290299.7/
                                                  ENSP00000290299.2
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 AV734214.1         51-55
            6-697               CD174837.1         26-717
            698-741             AW518473.1         37-80               c
            742-756             AF088071.1         587-601
FEATURES             Location/Qualifiers
     source          1..756
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     gene            1..756
                     /gene="ATP5PO"
                     /gene_synonym="ATP5O; ATPO; HMC08D05; MC5DN7; OSCP"
                     /note="ATP synthase peripheral stalk subunit OSCP"
                     /db_xref="GeneID:539"
                     /db_xref="HGNC:HGNC:850"
                     /db_xref="MIM:600828"
     exon            1..77
                     /gene="ATP5PO"
                     /gene_synonym="ATP5O; ATPO; HMC08D05; MC5DN7; OSCP"
                     /inference="alignment:Splign:2.1.0"
     CDS             42..683
                     /gene="ATP5PO"
                     /gene_synonym="ATP5O; ATPO; HMC08D05; MC5DN7; OSCP"
                     /EC_number="7.1.2.2"
                     /note="oligomycin sensitivity conferring protein; human
                     ATP synthase OSCP subunit; ATP synthase subunit O,
                     mitochondrial; oligomycin sensitivity conferral protein
                     oscp-like protein; ATP synthase, H+ transporting,
                     mitochondrial F1 complex, O subunit"
                     /codon_start=1
                     /product="ATP synthase subunit O, mitochondrial precursor"
                     /protein_id="NP_001688.1"
                     /db_xref="CCDS:CCDS13634.1"
                     /db_xref="GeneID:539"
                     /db_xref="HGNC:HGNC:850"
                     /db_xref="MIM:600828"
                     /translation="MAAPAVSGLSRQVRCFSTSVVRPFAKLVRPPVQVYGIEGRYATA
                     LYSAASKQNKLEQVEKELLRVAQILKEPKVAASVLNPYVKRSIKVKSLNDITAKERFS
                     PLTTNLINLLAENGRLSNTQGVVSAFSTMMSVHRGEVPCTVTSASPLEEATLSELKTV
                     LKSFLSQGQVLKLEAKTDPSILGGMIVRIGEKYVDMSVKTKIQKLGRAMREIV"
     exon            78..128
                     /gene="ATP5PO"
                     /gene_synonym="ATP5O; ATPO; HMC08D05; MC5DN7; OSCP"
                     /inference="alignment:Splign:2.1.0"
     exon            129..239
                     /gene="ATP5PO"
                     /gene_synonym="ATP5O; ATPO; HMC08D05; MC5DN7; OSCP"
                     /inference="alignment:Splign:2.1.0"
     exon            240..369
                     /gene="ATP5PO"
                     /gene_synonym="ATP5O; ATPO; HMC08D05; MC5DN7; OSCP"
                     /inference="alignment:Splign:2.1.0"
     exon            370..482
                     /gene="ATP5PO"
                     /gene_synonym="ATP5O; ATPO; HMC08D05; MC5DN7; OSCP"
                     /inference="alignment:Splign:2.1.0"
     exon            483..569
                     /gene="ATP5PO"
                     /gene_synonym="ATP5O; ATPO; HMC08D05; MC5DN7; OSCP"
                     /inference="alignment:Splign:2.1.0"
     exon            570..756
                     /gene="ATP5PO"
                     /gene_synonym="ATP5O; ATPO; HMC08D05; MC5DN7; OSCP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      732..737
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP5PO"
                     /gene_synonym="ATP5O; ATPO; HMC08D05; MC5DN7; OSCP"
                     /note="hexamer: AATAAA"
     polyA_site      756
                     /gene="ATP5PO"
                     /gene_synonym="ATP5O; ATPO; HMC08D05; MC5DN7; OSCP"
                     /note="major polyA site"
ORIGIN      
        1 ctcttcccac tcgggtttga cctacagccg cccgggagaa gatggctgcc ccagcagtgt
       61 ccgggctctc ccggcaggtg cgatgcttca gtacctctgt ggtcagacca tttgccaagc
      121 ttgtgaggcc tcctgttcag gtatacggta ttgaaggtcg ctatgccaca gctctttatt
      181 ctgctgcatc aaaacagaat aagctggagc aagtagaaaa ggagttgttg agagtagcac
      241 aaatcctgaa ggaacccaaa gtggctgctt ctgttttgaa tccctatgtg aagcgttcca
      301 ttaaagtgaa aagcctaaat gacatcacag caaaagagag gttctctccc ctcactacca
      361 atctgatcaa tttgcttgct gaaaatggtc gattaagcaa tacccaagga gtcgtttctg
      421 ccttttctac catgatgagt gtccatcgcg gagaggtacc ttgcacagtg acctctgcat
      481 ctcctttaga agaagccaca ctctctgaat taaaaactgt cctcaagagc ttcctaagtc
      541 aaggccaagt attgaaattg gaggctaaga ctgatccgtc aatcttgggt ggaatgattg
      601 tgcgcattgg cgagaaatat gttgacatgt ctgtcaagac caagattcag aagctgggca
      661 gggctatgcg ggagattgtc taaaagtgtt ggttttctgc catcagtgaa aattcttaaa
      721 cttggagcaa caataaaaag cttccagaac agatca
//
