LOCUS       NM_001001973            1101 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens ATP synthase F1 subunit gamma (ATP5F1C), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001001973
VERSION     NM_001001973.3
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 1101)
  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 1101)
  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 1101)
  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 1101)
  AUTHORS   Pecina,P., Nuskova,H., Karbanova,V., Kaplanova,V., Mracek,T. and
            Houstek,J.
  TITLE     Role of the mitochondrial ATP synthase central stalk subunits gamma
            and delta in the activity and assembly of the mammalian enzyme
  JOURNAL   Biochim Biophys Acta Bioenerg 1859 (5), 374-381 (2018)
   PUBMED   29499186
  REMARK    GeneRIF: Both gamma and delta subunits silenced cells displayed
            decreased ATP synthase function - lowered rate of ADP-stimulated
            respiration, a two-fold increased sensitivity of respiration to
            inhibitor oligomycin, and impaired utilization of mitochondrial
            membrane potential for ADP phosphorylation.
REFERENCE   5  (bases 1 to 1101)
  AUTHORS   Fujikawa,M., Sugawara,K., Tanabe,T. and Yoshida,M.
  TITLE     Assembly of human mitochondrial ATP synthase through two separate
            intermediates, F1-c-ring and b-e-g complex
  JOURNAL   FEBS Lett 589 (19 Pt B), 2707-2712 (2015)
   PUBMED   26297831
REFERENCE   6  (bases 1 to 1101)
  AUTHORS   Elston,T., Wang,H. and Oster,G.
  TITLE     Energy transduction in ATP synthase
  JOURNAL   Nature 391 (6666), 510-513 (1998)
   PUBMED   9461222
REFERENCE   7  (bases 1 to 1101)
  AUTHORS   Abrahams,J.P., Leslie,A.G., Lutter,R. and Walker,J.E.
  TITLE     Structure at 2.8 A resolution of F1-ATPase from bovine heart
            mitochondria
  JOURNAL   Nature 370 (6491), 621-628 (1994)
   PUBMED   8065448
REFERENCE   8  (bases 1 to 1101)
  AUTHORS   Jabs,E.W., Thomas,P.J., Bernstein,M., Coss,C., Ferreira,G.C. and
            Pedersen,P.L.
  TITLE     Chromosomal localization of genes required for the terminal steps
            of oxidative metabolism: alpha and gamma subunits of ATP synthase
            and the phosphate carrier
  JOURNAL   Hum Genet 93 (5), 600-602 (1994)
   PUBMED   8168843
REFERENCE   9  (bases 1 to 1101)
  AUTHORS   Matsuda,C., Endo,H., Ohta,S. and Kagawa,Y.
  TITLE     Gene structure of human mitochondrial ATP synthase gamma-subunit.
            Tissue specificity produced by alternative RNA splicing
  JOURNAL   J Biol Chem 268 (33), 24950-24958 (1993)
   PUBMED   8227057
REFERENCE   10 (bases 1 to 1101)
  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 BQ893894.1, D16562.1 and
            BC026049.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001001973.2.
            
            Summary: This gene encodes a subunit of mitochondrial ATP synthase.
            Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an
            electrochemical gradient of protons across the inner membrane
            during oxidative phosphorylation. ATP synthase is composed of two
            linked multi-subunit complexes: the soluble catalytic core, F1, and
            the membrane-spanning component, Fo, comprising the proton channel.
            The catalytic portion of mitochondrial ATP synthase consists of 5
            different subunits (alpha, beta, gamma, delta, and epsilon)
            assembled with a stoichiometry of 3 alpha, 3 beta, and a single
            representative of the other 3. The proton channel consists of three
            main subunits (a, b, c). This gene encodes the gamma subunit of the
            catalytic core. Alternatively spliced transcript variants encoding
            different isoforms have been identified. This gene also has a
            pseudogene on chromosome 14. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript, and encodes the longest isoform (L), also known as a
            liver type isoform.
            
            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 :: SRR1163658.220866.1, D16562.1
                                           [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                 :: ENST00000356708.12/
                                                  ENSP00000349142.7
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-713               BQ893894.1         49-761
            714-1100            D16562.1           714-1100
            1101-1101           BC026049.1         1049-1049
FEATURES             Location/Qualifiers
     source          1..1101
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p14"
     gene            1..1101
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /note="ATP synthase F1 subunit gamma"
                     /db_xref="GeneID:509"
                     /db_xref="HGNC:HGNC:833"
                     /db_xref="MIM:108729"
     exon            1..87
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..928
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /EC_number="3.6.1.14"
                     /note="isoform L (liver) precursor is encoded by
                     transcript variant 1; mitochondrial ATP synthase, gamma
                     subunit 1; ATP synthase gamma chain, mitochondrial; ATP
                     synthase subunit gamma, mitochondrial; F-ATPase gamma
                     subunit; ATP synthase, H+ transporting, mitochondrial F1
                     complex, gamma polypeptide 1"
                     /codon_start=1
                     /product="ATP synthase subunit gamma, mitochondrial
                     isoform L (liver) precursor"
                     /protein_id="NP_001001973.1"
                     /db_xref="CCDS:CCDS31142.1"
                     /db_xref="GeneID:509"
                     /db_xref="HGNC:HGNC:833"
                     /db_xref="MIM:108729"
                     /translation="MFSRAGVAGLSAWTLQPQWIQVRNMATLKDITRRLKSIKNIQKI
                     TKSMKMVAAAKYARAERELKPARIYGLGSLALYEKADIKGPEDKKKHLLIGVSSDRGL
                     CGAIHSSIAKQMKSEVATLTAAGKEVMLVGIGDKIRGILYRTHSDQFLVAFKEVGRKP
                     PTFGDASVIALELLNSGYEFDEGSIIFNKFRSVISYKTEEKPIFSLNTVASADSMSIY
                     DDIDADVLQNYQEYNLANIIYYSLKESTTSEQSARMTAMDNASKNASEMIDKLTLTFN
                     RTRQAVITKELIEIISGAAALD"
     exon            88..122
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /inference="alignment:Splign:2.1.0"
     exon            123..254
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /inference="alignment:Splign:2.1.0"
     exon            255..459
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /inference="alignment:Splign:2.1.0"
     exon            460..603
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /inference="alignment:Splign:2.1.0"
     exon            604..668
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /inference="alignment:Splign:2.1.0"
     exon            669..824
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /inference="alignment:Splign:2.1.0"
     exon            825..921
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /inference="alignment:Splign:2.1.0"
     exon            922..958
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /inference="alignment:Splign:2.1.0"
     exon            959..1101
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1081..1086
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /note="hexamer: AATAAA"
     polyA_site      1101
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /note="major polyA site"
ORIGIN      
        1 ctgaccgacc ttcagcaggg ctgtggctac catgttctct cgcgcgggtg tcgctgggct
       61 gtcggcctgg accttgcagc cgcaatggat tcaagttcga aatatggcaa ctttgaaaga
      121 tatcaccagg agactaaagt ccatcaaaaa catccagaaa attaccaagt ctatgaaaat
      181 ggtagcggca gcaaaatatg cccgagctga gagagagctg aaaccagctc gaatatatgg
      241 attgggatct ttagctctgt atgaaaaagc tgatatcaag gggcctgaag acaagaagaa
      301 acacctcctt attggtgtgt cctcagatcg aggactgtgt ggtgctattc attcctccat
      361 tgctaaacag atgaaaagcg aggttgctac actaacagca gctgggaaag aagttatgct
      421 tgttggaatt ggtgacaaaa tcagaggcat actttatagg actcattctg accagtttct
      481 ggtggcattc aaagaagtgg gaagaaagcc ccccactttt ggagatgcgt cagtcattgc
      541 ccttgaatta ctaaattctg gatatgaatt tgatgaaggc tccatcatct ttaataaatt
      601 caggtctgtc atctcctata agacagaaga aaagcccatc ttttccctta ataccgttgc
      661 aagtgctgac agcatgagta tctatgacga tattgatgct gacgtgctgc aaaattacca
      721 agaatacaat ctggccaaca tcatctacta ctctctgaag gagtccacca ctagtgagca
      781 gagtgccagg atgacagcca tggacaatgc cagcaagaat gcttctgaga tgattgacaa
      841 attgacattg acattcaacc gtacccgcca agctgtcatc acaaaagagt tgattgaaat
      901 tatctctggt gctgcagctc tggattaatg aaaatcaagt tccatcctca gacaagaggt
      961 aaagaaggaa aattcagcca gttgattttg tttttagctt actgctgcct ttgtccgaag
     1021 aaactgttcc tccattattt gaattactga agacagcaag atatttgtaa attatcttaa
     1081 aataaacaac ttaaaataaa a
//
