LOCUS       NM_001689               2587 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens ATP synthase membrane subunit c locus 3 (ATP5MC3),
            transcript variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001689
VERSION     NM_001689.5
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 2587)
  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 2587)
  AUTHORS   Carroll,J., He,J., Ding,S., Fearnley,I.M. and Walker,J.E.
  TITLE     TMEM70 and TMEM242 help to assemble the rotor ring of human ATP
            synthase and interact with assembly factors for complex I
  JOURNAL   Proc Natl Acad Sci U S A 118 (13) (2021)
   PUBMED   33753518
REFERENCE   3  (bases 1 to 2587)
  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 2587)
  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 2587)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2587)
  AUTHORS   Wang,H. and Oster,G.
  TITLE     Energy transduction in the F1 motor of ATP synthase
  JOURNAL   Nature 396 (6708), 279-282 (1998)
   PUBMED   9834036
REFERENCE   7  (bases 1 to 2587)
  AUTHORS   Elston,T., Wang,H. and Oster,G.
  TITLE     Energy transduction in ATP synthase
  JOURNAL   Nature 391 (6666), 510-513 (1998)
   PUBMED   9461222
REFERENCE   8  (bases 1 to 2587)
  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 2587)
  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 2587)
  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 BF210704.1, BI756002.1,
            BC106881.2, AC096649.1 and AW025164.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001689.4.
            
            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 different proteins have been
            identified. [provided by RefSeq, Jun 2010].
            
            Transcript Variant: This variant (2) has an additional intron
            sequence in its 3' end, compared to variant 4. This difference
            results in a protein (isoform A) with a longer C-terminus, compared
            to isoform B. Variants 2 and 3 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1660807.227951.1,
                                           SRR1803611.11510.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2144835
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000284727.9/
                                                  ENSP00000284727.4
            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
            1-55                BF210704.1         54-108
            56-490              BI756002.1         71-505
            491-778             BC106881.2         458-745
            779-2480            AC096649.1         16189-17890         c
            2481-2587           AW025164.1         13-119              c
FEATURES             Location/Qualifiers
     source          1..2587
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     gene            1..2587
                     /gene="ATP5MC3"
                     /gene_synonym="ATP5G3; DYTSPG; P3"
                     /note="ATP synthase membrane subunit c locus 3"
                     /db_xref="GeneID:518"
                     /db_xref="HGNC:HGNC:843"
                     /db_xref="MIM:602736"
     exon            1..55
                     /gene="ATP5MC3"
                     /gene_synonym="ATP5G3; DYTSPG; P3"
                     /inference="alignment:Splign:2.1.0"
     exon            56..167
                     /gene="ATP5MC3"
                     /gene_synonym="ATP5G3; DYTSPG; P3"
                     /inference="alignment:Splign:2.1.0"
     CDS             129..557
                     /gene="ATP5MC3"
                     /gene_synonym="ATP5G3; DYTSPG; P3"
                     /note="isoform A precursor is encoded by transcript
                     variant 2; ATP synthase, mitochondrial, C subunit-3; ATP
                     synthase, H+ transporting, mitochondrial F0 complex,
                     subunit C3 (subunit 9); ATP synthase lipid-binding
                     protein, mitochondrial; ATP synthase proteolipid P3;
                     ATPase protein 9; dicyclohexylcarbodiimide (DCCD)-reactive
                     proteolipid subunit; ATP synthase, H+ transporting,
                     mitochondrial Fo complex subunit C3 (subunit 9); ATPase
                     subunit C; ATP synthase subunit 9; ATP synthase
                     proton-transporting mitochondrial F(0) complex subunit C3;
                     ATP synthase F(0) complex subunit C3, mitochondrial"
                     /codon_start=1
                     /product="ATP synthase F(0) complex subunit C3,
                     mitochondrial isoform A precursor"
                     /protein_id="NP_001680.1"
                     /db_xref="CCDS:CCDS2263.1"
                     /db_xref="GeneID:518"
                     /db_xref="HGNC:HGNC:843"
                     /db_xref="MIM:602736"
                     /translation="MFACAKLACTPSLIRAGSRVAYRPISASVLSRPEASRTGEGSTV
                     FNGAQNGVSQLIQREFQTSAISRDIDTAAKFIGAGAATVGVAGSGAGIGTVFGSLIIG
                     YARNPSLKQQLFSYAILGFALSEAMGLFCLMVAFLILFAM"
     exon            168..248
                     /gene="ATP5MC3"
                     /gene_synonym="ATP5G3; DYTSPG; P3"
                     /inference="alignment:Splign:2.1.0"
     exon            249..442
                     /gene="ATP5MC3"
                     /gene_synonym="ATP5G3; DYTSPG; P3"
                     /inference="alignment:Splign:2.1.0"
     exon            443..2587
                     /gene="ATP5MC3"
                     /gene_synonym="ATP5G3; DYTSPG; P3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      682..687
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP5MC3"
                     /gene_synonym="ATP5G3; DYTSPG; P3"
                     /note="hexamer: ATTAAA"
     polyA_site      701
                     /gene="ATP5MC3"
                     /gene_synonym="ATP5G3; DYTSPG; P3"
                     /note="major polyA site"
     regulatory      945..950
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP5MC3"
                     /gene_synonym="ATP5G3; DYTSPG; P3"
                     /note="hexamer: ATTAAA"
     polyA_site      966
                     /gene="ATP5MC3"
                     /gene_synonym="ATP5G3; DYTSPG; P3"
     regulatory      2565..2570
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP5MC3"
                     /gene_synonym="ATP5G3; DYTSPG; P3"
                     /note="hexamer: AATAAA"
     polyA_site      2587
                     /gene="ATP5MC3"
                     /gene_synonym="ATP5G3; DYTSPG; P3"
ORIGIN      
        1 agtcccactc cttcgacctc tgccgcagcc cgtgccgccg ccgcctcctg ggaagagagg
       61 aagcgggaga ggagcccacg tcgcctgtca cccaatatct ccagccgcgc agtcccgaag
      121 agtgtaagat gttcgcctgc gccaagctcg cctgcacccc ctctctgatc cgagctggat
      181 ccagagttgc atacagacca atttctgcat cagtgttatc tcgaccagag gctagtagga
      241 ctggagaggg ctctacggta tttaatgggg cccagaatgg tgtgtctcag ctaatccaaa
      301 gggagtttca gaccagtgca atcagcagag acattgatac tgctgccaaa tttattggtg
      361 caggtgctgc aacagtagga gtggctggtt ctggtgctgg tattggaaca gtctttggca
      421 gccttatcat tggttatgcc agaaaccctt cgctgaagca gcagctgttc tcatatgcta
      481 tcctgggatt tgccttgtct gaagctatgg gtctcttttg tttgatggtt gctttcttga
      541 ttttgtttgc catgtaacaa attactgctt gacatgttgg cattcatatt aattacggat
      601 gtaattctgt gtatcttact gtgactccga aaactgtagt attggtgtca tgggaatgta
      661 cgttatttcc aaagtcattt cattaaagat gaaaacttta atttcttctg tgatttgtac
      721 ttacactaag tttagattat cacaaagaag aacgtgcatt caggcagatg ctgtcccatt
      781 cagaggaagc tacagcagtt gctccactga tgaaaaatat tccaatgtaa tttttatggg
      841 aattctttta tatagtgttc tgcatattgt aattcatagg gcttttgttt attcatataa
      901 aggataaata tttgggtgtt ttgagcttct ataaaatatg attaattaaa ggtagttaat
      961 actcaagatg gtcttgagtt tttaaggtct aacatcagtt agaatacttc aaatcagaat
     1021 caccttccaa gactgacttg acaggtggtt ctaaaaataa atcacgtcag ctttttagga
     1081 aatgaagcct taagctaggg ggtaatgtga cttttgtttt tcagtaagtc tcacattaag
     1141 caattgtgtg cctctaatga atcttccatg tcttttcaga acaggctcag tccaactagc
     1201 agctagtttc ttacttgaac aagactatta aaaaccaaat atcaaaaaac tgaattggct
     1261 agatttttac agccaaaaat tgctgtaagg cagtgtgtat cactgttgct aacatgttta
     1321 tagtgggagt cttggggatg atagctggtt caacagtatt ttgctgctaa tactttatgt
     1381 tgcttcttgg tcaaactttt cccattcaaa ggaagaagat ggtgctacta tagacagttt
     1441 ttcccctagc aaatatattg taccataata tctatcatcc aagtttcagg gttttttgaa
     1501 agttgataat taggaaagtg acattttact tttcttagtg ccctttgcct gtttgatttc
     1561 cattgagaaa gagcagtcac caaagttcct caagtgtcgg aagaccacct ccatcagaat
     1621 cagtgcttgt ttaaaaaata aaaatcccta ggttccagac ctactgaatt ggactctttg
     1681 gacatgagac tcagcaatct acatctttaa aaaggcttcc caggtggttt ttgtgcatac
     1741 tgtttgagag tcactaagtt atatatatat cctaccttct gtaaagtgaa atgaggcccc
     1801 aaaaagctaa agaggtagag ctgctacctc gtttttagtt gattcatcat ctagtctata
     1861 tcacccaaaa gaattggaaa taggtattca aacaaaaacc tgtatacaag tattcataga
     1921 agcactactt acaatagccg aaaggtagaa acaaccaaat gtctatcagc tgatgaatgg
     1981 ataagtaaaa tacatccata taatggaata ttcagccatg aaaaggaatg aggcactgat
     2041 acataatgaa tagatgtgag tgaaccctaa gaaagcatgc taagtggaag aagccagcca
     2101 catgattcca tttatatgaa atatccaaaa taggcaaatc cacggtgaca aagccaatta
     2161 gtagttatca ggaactaggg agggggtgaa aagggagtga ctgcgtaatg cgtatgggga
     2221 ttccttttag gatgatgaaa attggatgaa ttacagctgg tctgatggta gtgggttatc
     2281 agaacttatt aacattagtg tcattaaagt tggtatatag cccctcactg ctaaatctgg
     2341 ctcaaaaatt aaaagattat taaaatttga tgaattagtg gtgatggttg cacaacattg
     2401 taaatataat aaatgtcact gaattgtaca ctttaaggtg gttaaaatgg caaattttac
     2461 atgtcttact gaaactacta tttaatacaa agtacatagt ataaaatttt aaaagtgata
     2521 ggaaaatgct tagattaata ttcacctatt ccaagtatat tttaaataaa aacagtcttg
     2581 gtaaaga
//
