LOCUS       NM_005175                646 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens ATP synthase membrane subunit c locus 1 (ATP5MC1),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_005175
VERSION     NM_005175.3
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 646)
  AUTHORS   Lai,Y., Zhang,Y., Zhou,S., Xu,J., Du,Z., Feng,Z., Yu,L., Zhao,Z.,
            Wang,W., Tang,Y., Yang,X., Guddat,L.W., Liu,F., Gao,Y., Rao,Z. and
            Gong,H.
  TITLE     Structure of the human ATP synthase
  JOURNAL   Mol Cell 83 (12), 2137-2147 (2023)
   PUBMED   37244256
REFERENCE   2  (bases 1 to 646)
  AUTHORS   Pinho,S.A., Costa,C.F., Deus,C.M., Pinho,S.L.C., Miranda-Santos,I.,
            Afonso,G., Bagshaw,O., Stuart,J.A., Oliveira,P.J. and
            Cunha-Oliveira,T.
  TITLE     Mitochondrial and metabolic remodelling in human skin fibroblasts
            in response to glucose availability
  JOURNAL   FEBS J 289 (17), 5198-5217 (2022)
   PUBMED   35213938
REFERENCE   3  (bases 1 to 646)
  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 646)
  AUTHORS   Morciano,G., Pedriali,G., Bonora,M., Pavasini,R., Mikus,E.,
            Calvi,S., Bovolenta,M., Lebiedzinska-Arciszewska,M., Pinotti,M.,
            Albertini,A., Wieckowski,M.R., Giorgi,C., Ferrari,R., Galluzzi,L.,
            Campo,G. and Pinton,P.
  TITLE     A naturally occurring mutation in ATP synthase subunit c is
            associated with increased damage following hypoxia/reoxygenation in
            STEMI patients
  JOURNAL   Cell Rep 35 (2), 108983 (2021)
   PUBMED   33852870
  REMARK    GeneRIF: A naturally occurring mutation in ATP synthase subunit c
            is associated with increased damage following hypoxia/reoxygenation
            in STEMI patients.
REFERENCE   5  (bases 1 to 646)
  AUTHORS   Bahri,H., Buratto,J., Rojo,M., Dompierre,J.P., Salin,B.,
            Blancard,C., Cuvellier,S., Rose,M., Ben Ammar Elgaaied,A.,
            Tetaud,E., di Rago,J.P., Devin,A. and Duvezin-Caubet,S.
  TITLE     TMEM70 forms oligomeric scaffolds within mitochondrial cristae
            promoting in situ assembly of mammalian ATP synthase proton channel
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1868 (4), 118942 (2021)
   PUBMED   33359711
REFERENCE   6  (bases 1 to 646)
  AUTHORS   Yan,W.L., Lerner,T.J., Haines,J.L. and Gusella,J.F.
  TITLE     Sequence analysis and mapping of a novel human mitochondrial ATP
            synthase subunit 9 cDNA (ATP5G3)
  JOURNAL   Genomics 24 (2), 375-377 (1994)
   PUBMED   7698763
REFERENCE   7  (bases 1 to 646)
  AUTHORS   Dyer,M.R. and Walker,J.E.
  TITLE     Sequences of members of the human gene family for the c subunit of
            mitochondrial ATP synthase
  JOURNAL   Biochem J 293 (Pt 1) (Pt 1), 51-64 (1993)
   PUBMED   8328972
REFERENCE   8  (bases 1 to 646)
  AUTHORS   Higuti,T., Kawamura,Y., Kuroiwa,K., Miyazaki,S. and Tsujita,H.
  TITLE     Molecular cloning and sequence of two cDNAs for human subunit c of
            H(+)-ATP synthase in mitochondria
  JOURNAL   Biochim Biophys Acta 1173 (1), 87-90 (1993)
   PUBMED   8485160
REFERENCE   9  (bases 1 to 646)
  AUTHORS   Farrell,L.B. and Nagley,P.
  TITLE     Human liver cDNA clones encoding proteolipid subunit 9 of the
            mitochondrial ATPase complex
  JOURNAL   Biochem Biophys Res Commun 144 (3), 1257-1264 (1987)
   PUBMED   2883974
REFERENCE   10 (bases 1 to 646)
  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 AC091133.11.
            
            On Nov 23, 2018 this sequence version replaced NM_005175.2.
            
            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 seems to have
            nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of
            three genes that encode subunit c of the proton channel. Each of
            the three genes have distinct mitochondrial import sequences but
            encode the identical mature protein. Alternatively spliced
            transcript variants encoding the same protein have been identified.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 encode the same protein.
            
            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 :: ERR279865.441.1, CB111367.1
                                           [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                 :: ENST00000393366.7/
                                                  ENSP00000377033.2
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-124               AC091133.11        147857-147980       c
            125-172             AC091133.11        147311-147358       c
            173-250             AC091133.11        146318-146395       c
            251-429             AC091133.11        145433-145611       c
            430-646             AC091133.11        144896-145112       c
FEATURES             Location/Qualifiers
     source          1..646
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.32"
     gene            1..646
                     /gene="ATP5MC1"
                     /gene_synonym="ATP5A; ATP5G; ATP5G1"
                     /note="ATP synthase membrane subunit c locus 1"
                     /db_xref="GeneID:516"
                     /db_xref="HGNC:HGNC:841"
                     /db_xref="MIM:603192"
     exon            1..124
                     /gene="ATP5MC1"
                     /gene_synonym="ATP5A; ATP5G; ATP5G1"
                     /inference="alignment:Splign:2.1.0"
     exon            125..172
                     /gene="ATP5MC1"
                     /gene_synonym="ATP5A; ATP5G; ATP5G1"
                     /inference="alignment:Splign:2.1.0"
     CDS             134..544
                     /gene="ATP5MC1"
                     /gene_synonym="ATP5A; ATP5G; ATP5G1"
                     /note="ATP synthase, H+ transporting, mitochondrial F0
                     complex, subunit C1 (subunit 9); ATP synthase subunit 9;
                     ATP synthase, H+ transporting, mitochondrial F0 complex,
                     subunit c (subunit 9); ATP synthase lipid-binding protein,
                     mitochondrial; ATP synthase proteolipid P1; ATP synthase
                     proton-transporting mitochondrial F(0) complex subunit C1;
                     ATPase protein 9; ATPase subunit C; ATPase subunit 9;
                     mitochondrial ATP synthase, subunit C; ATP synthase, H+
                     transporting, mitochondrial Fo complex subunit C1 (subunit
                     9); mitochondrial ATP synthase, subunit 9; ATP synthase
                     F(0) complex subunit C1, mitochondrial;
                     dicyclohexylcarbodiimide (DCCD)-reactive proteolipid
                     subunit"
                     /codon_start=1
                     /product="ATP synthase F(0) complex subunit C1,
                     mitochondrial precursor"
                     /protein_id="NP_005166.1"
                     /db_xref="CCDS:CCDS11539.1"
                     /db_xref="GeneID:516"
                     /db_xref="HGNC:HGNC:841"
                     /db_xref="MIM:603192"
                     /translation="MQTAGALFISPALIRCCTRGLIRPVSASFLNSPVNSSKQPSYSN
                     FPLQVARREFQTSVVSRDIDTAAKFIGAGAATVGVAGSGAGIGTVFGSLIIGYARNPS
                     LKQQLFSYAILGFALSEAMGLFCLMVAFLILFAM"
     exon            173..250
                     /gene="ATP5MC1"
                     /gene_synonym="ATP5A; ATP5G; ATP5G1"
                     /inference="alignment:Splign:2.1.0"
     exon            251..429
                     /gene="ATP5MC1"
                     /gene_synonym="ATP5A; ATP5G; ATP5G1"
                     /inference="alignment:Splign:2.1.0"
     exon            430..646
                     /gene="ATP5MC1"
                     /gene_synonym="ATP5A; ATP5G; ATP5G1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      624..629
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP5MC1"
                     /gene_synonym="ATP5A; ATP5G; ATP5G1"
                     /note="hexamer: ATTAAA"
     polyA_site      646
                     /gene="ATP5MC1"
                     /gene_synonym="ATP5A; ATP5G; ATP5G1"
                     /note="major polyA site"
ORIGIN      
        1 aggacacgtg ggtgggggaa gctgagcgct gagaccaagg gctaaagctg ggaggtgagt
       61 ctgtcacctt gagccgggcg agcgctgtgg gccaagcagg ggttgcaggg tagtaggagt
      121 gcagactgaa aaaatgcaga ccgccggggc attattcatt tctccagctc tgatccgctg
      181 ttgtaccagg ggtctaatca ggcctgtgtc tgcctccttc ttgaatagcc cagtgaattc
      241 atctaaacag ccttcctaca gcaacttccc actccaggtg gccagacggg agttccagac
      301 cagtgttgtc tcccgggaca ttgacacagc agccaagttt attggtgctg gggcagccac
      361 agttggtgtg gctggttcag gggctggcat tggaaccgtg tttggcagct tgatcattgg
      421 ctatgccagg aacccgtctc tcaagcagca gctcttctcc tatgccattc ttggctttgc
      481 cctgtctgag gccatggggc ttttctgttt gatggtcgcc ttcctcatcc tcttcgccat
      541 gtgaggctcc atgggggggt caccggcctg ttgctactgc aactccacac cattcttggt
      601 gctggggtgt gttaagcttt accattaaac acaacgtttc tctaaa
//
