LOCUS       NM_005176                632 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens ATP synthase membrane subunit c locus 2 (ATP5MC2),
            transcript variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_005176
VERSION     NM_005176.7
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 632)
  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 632)
  AUTHORS   Tebbenkamp,A.T.N., Varela,L., Choi,J., Paredes,M.I., Giani,A.M.,
            Song,J.E., Sestan-Pesa,M., Franjic,D., Sousa,A.M.M., Liu,Z.W.,
            Li,M., Bichsel,C., Koch,M., Szigeti-Buck,K., Liu,F., Li,Z.,
            Kawasawa,Y.I., Paspalas,C.D., Mineur,Y.S., Prontera,P., Merla,G.,
            Picciotto,M.R., Arnsten,A.F.T., Horvath,T.L. and Sestan,N.
  TITLE     The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links
            Mitochondria to Brain Development
  JOURNAL   Cell 175 (4), 1088-1104 (2018)
   PUBMED   30318146
REFERENCE   3  (bases 1 to 632)
  AUTHORS   He,J., Ford,H.C., Carroll,J., Ding,S., Fearnley,I.M. and
            Walker,J.E.
  TITLE     Persistence of the mitochondrial permeability transition in the
            absence of subunit c of human ATP synthase
  JOURNAL   Proc Natl Acad Sci U S A 114 (13), 3409-3414 (2017)
   PUBMED   28289229
  REMARK    GeneRIF: ATP5G1, ATP5G2, and ATP5G3 of the ATP synthase are not
            involved in forming the permeability transition pore.
REFERENCE   4  (bases 1 to 632)
  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   5  (bases 1 to 632)
  AUTHORS   He,M., Xu,M., Zhang,B., Liang,J., Chen,P., Lee,J.Y., Johnson,T.A.,
            Li,H., Yang,X., Dai,J., Liang,L., Gui,L., Qi,Q., Huang,J., Li,Y.,
            Adair,L.S., Aung,T., Cai,Q., Cheng,C.Y., Cho,M.C., Cho,Y.S.,
            Chu,M., Cui,B., Gao,Y.T., Go,M.J., Gu,D., Gu,W., Guo,H., Hao,Y.,
            Hong,J., Hu,Z., Hu,Y., Huang,J., Hwang,J.Y., Ikram,M.K., Jin,G.,
            Kang,D.H., Khor,C.C., Kim,B.J., Kim,H.T., Kubo,M., Lee,J., Lee,J.,
            Lee,N.R., Li,R., Li,J., Liu,J., Longe,J., Lu,W., Lu,X., Miao,X.,
            Okada,Y., Ong,R.T., Qiu,G., Seielstad,M., Sim,X., Song,H.,
            Takeuchi,F., Tanaka,T., Taylor,P.R., Wang,L., Wang,W., Wang,Y.,
            Wu,C., Wu,Y., Xiang,Y.B., Yamamoto,K., Yang,H., Liao,M., Yokota,M.,
            Young,T., Zhang,X., Kato,N., Wang,Q.K., Zheng,W., Hu,F.B., Lin,D.,
            Shen,H., Teo,Y.Y., Mo,Z., Wong,T.Y., Lin,X., Mohlke,K.L., Ning,G.,
            Tsunoda,T., Han,B.G., Shu,X.O., Tai,E.S., Wu,T. and Qi,L.
  TITLE     Meta-analysis of genome-wide association studies of adult height in
            East Asians identifies 17 novel loci
  JOURNAL   Hum Mol Genet 24 (6), 1791-1800 (2015)
   PUBMED   25429064
REFERENCE   6  (bases 1 to 632)
  AUTHORS   Houstek,J., Andersson,U., Tvrdik,P., Nedergaard,J. and Cannon,B.
  TITLE     The expression of subunit c correlates with and thus may limit the
            biosynthesis of the mitochondrial F0F1-ATPase in brown adipose
            tissue
  JOURNAL   J Biol Chem 270 (13), 7689-7694 (1995)
   PUBMED   7706317
REFERENCE   7  (bases 1 to 632)
  AUTHORS   Kato,S., Sekine,S., Oh,S.W., Kim,N.S., Umezawa,Y., Abe,N.,
            Yokoyama-Kobayashi,M. and Aoki,T.
  TITLE     Construction of a human full-length cDNA bank
  JOURNAL   Gene 150 (2), 243-250 (1994)
   PUBMED   7821789
REFERENCE   8  (bases 1 to 632)
  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   9  (bases 1 to 632)
  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   10 (bases 1 to 632)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073594.31 and AK130971.1.
            
            On Jun 2, 2019 this sequence version replaced NM_005176.6.
            
            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 single
            representatives of the gamma, delta, and epsilon subunits. The
            proton channel likely has nine subunits (a, b, c, d, e, f, g, F6
            and 8). There are three separate genes which encode subunit c of
            the proton channel and they specify precursors with different
            import sequences but identical mature proteins. The protein encoded
            by this gene is one of three precursors of subunit c. This gene has
            multiple pseudogenes. [provided by RefSeq, Jan 2018].
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region and uses a downstream start codon
            compared to variant 1. Variants 2 and 3 encode the same isoform
            (c).
            
            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 :: CD172934.1, BF679618.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145313, SAMEA2156099
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000394349.9/
                                                  ENSP00000377878.5
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AC073594.31        55328-55328         c
            2-632               AK130971.1         1-631
FEATURES             Location/Qualifiers
     source          1..632
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..632
                     /gene="ATP5MC2"
                     /gene_synonym="ATP5A; ATP5G2"
                     /note="ATP synthase membrane subunit c locus 2"
                     /db_xref="GeneID:517"
                     /db_xref="HGNC:HGNC:842"
                     /db_xref="MIM:603193"
     exon            1..31
                     /gene="ATP5MC2"
                     /gene_synonym="ATP5A; ATP5G2"
                     /inference="alignment:Splign:2.1.0"
     exon            32..101
                     /gene="ATP5MC2"
                     /gene_synonym="ATP5A; ATP5G2"
                     /inference="alignment:Splign:2.1.0"
     CDS             63..488
                     /gene="ATP5MC2"
                     /gene_synonym="ATP5A; ATP5G2"
                     /note="isoform c precursor is encoded by transcript
                     variant 2; ATP synthase, H+ transporting, mitochondrial F0
                     complex, subunit C2 (subunit 9); ATP synthase
                     lipid-binding protein, mitochondrial; ATP synthase
                     proteolipid P2; ATPase protein 9; ATPase subunit C; ATP
                     synthase c subunit; ATP synthase proton-transporting
                     mitochondrial F(0) complex subunit C2; ATP synthase, H+
                     transporting, mitochondrial Fo complex subunit C2 (subunit
                     9); ATP synthase F(0) complex subunit C2, mitochondrial;
                     dicyclohexylcarbodiimide (DCCD)-reactive proteolipid
                     subunit"
                     /codon_start=1
                     /product="ATP synthase F(0) complex subunit C2,
                     mitochondrial isoform c precursor"
                     /protein_id="NP_005167.3"
                     /db_xref="CCDS:CCDS81694.1"
                     /db_xref="GeneID:517"
                     /db_xref="HGNC:HGNC:842"
                     /db_xref="MIM:603193"
                     /translation="MFACSKFVSTPSLVKSTSQLLSRPLSAVVLKRPEILTDESLSSL
                     AVSCPLTSLVSSRSFQTSAISRDIDTAAKFIGAGAATVGVAGSGAGIGTVFGSLIIGY
                     ARNPSLKQQLFSYAILGFALSEAMGLFCLMVAFLILFAM"
     exon            102..179
                     /gene="ATP5MC2"
                     /gene_synonym="ATP5A; ATP5G2"
                     /inference="alignment:Splign:2.1.0"
     exon            180..373
                     /gene="ATP5MC2"
                     /gene_synonym="ATP5A; ATP5G2"
                     /inference="alignment:Splign:2.1.0"
     exon            374..632
                     /gene="ATP5MC2"
                     /gene_synonym="ATP5A; ATP5G2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      611..616
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP5MC2"
                     /gene_synonym="ATP5A; ATP5G2"
                     /note="hexamer: AATAAA"
     polyA_site      632
                     /gene="ATP5MC2"
                     /gene_synonym="ATP5A; ATP5G2"
                     /note="major polyA site"
ORIGIN      
        1 cccctctctg tcttctctgc agtgggagca gctctcctgc cacagctcct caccccctga
       61 aaatgttcgc ctgctccaag tttgtctcca ctccctcctt ggtcaagagc acctcacagc
      121 tgctgagccg tccgctatct gcagtggtgc tgaaacgacc ggagatactg acagatgaga
      181 gcctcagcag cttggcagtc tcatgtcccc ttacctcact tgtctctagc cgcagcttcc
      241 aaaccagcgc catttcaagg gacatcgaca cagcagccaa gttcattgga gctggggctg
      301 ccacagttgg ggtggctggt tctggggctg ggattggaac tgtgtttggg agcctcatca
      361 ttggttatgc caggaaccct tctctgaagc aacagctctt ctcctacgcc attctgggct
      421 ttgccctctc ggaggccatg gggctctttt gtctgatggt agcctttctc atcctctttg
      481 ccatgtgaag gagccgtctc cacctcccat agttctcccg cgtctggttg gccccgtgtg
      541 ttccttttcc tatacctccc caggcagcct ggggaacgtg gttggctcag ggtttgacag
      601 agaaaagaca aataaatact gtattaataa ga
//
