LOCUS       NM_006356                609 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens ATP synthase peripheral stalk subunit d (ATP5PD),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_006356
VERSION     NM_006356.3
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 609)
  AUTHORS   Katz Shroitman,N., Yitzhaky,A., Ben Shachar,D., Gurwitz,D. and
            Hertzberg,L.
  TITLE     Meta-analysis of brain samples of individuals with schizophrenia
            detects down-regulation of multiple ATP synthase encoding genes in
            both females and males
  JOURNAL   J Psychiatr Res 158, 350-359 (2023)
   PUBMED   36640659
  REMARK    GeneRIF: Meta-analysis of brain samples of individuals with
            schizophrenia detects down-regulation of multiple ATP synthase
            encoding genes in both females and males.
REFERENCE   2  (bases 1 to 609)
  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   3  (bases 1 to 609)
  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   4  (bases 1 to 609)
  AUTHORS   Fasci,D., van Ingen,H., Scheltema,R.A. and Heck,A.J.R.
  TITLE     Histone Interaction Landscapes Visualized by Crosslinking Mass
            Spectrometry in Intact Cell Nuclei
  JOURNAL   Mol Cell Proteomics 17 (10), 2018-2033 (2018)
   PUBMED   30021884
REFERENCE   5  (bases 1 to 609)
  AUTHORS   Song,K.H., Kim,J.H., Lee,Y.H., Bae,H.C., Lee,H.J., Woo,S.R.,
            Oh,S.J., Lee,K.M., Yee,C., Kim,B.W., Cho,H., Chung,E.J.,
            Chung,J.Y., Hewitt,S.M., Chung,T.W., Ha,K.T., Bae,Y.K., Mao,C.P.,
            Yang,A., Wu,T.C. and Kim,T.W.
  TITLE     Mitochondrial reprogramming via ATP5H loss promotes multimodal
            cancer therapy resistance
  JOURNAL   J Clin Invest 128 (9), 4098-4114 (2018)
   PUBMED   30124467
  REMARK    GeneRIF: ATP5H loss in the tumor is strongly linked to failure of
            therapy, disease progression, and poor survival in patients with
            cancer.
REFERENCE   6  (bases 1 to 609)
  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
REFERENCE   7  (bases 1 to 609)
  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   8  (bases 1 to 609)
  AUTHORS   Elston,T., Wang,H. and Oster,G.
  TITLE     Energy transduction in ATP synthase
  JOURNAL   Nature 391 (6666), 510-513 (1998)
   PUBMED   9461222
REFERENCE   9  (bases 1 to 609)
  AUTHORS   Higuti,T., Kuroiwa,K., Miyazaki,S., Yoshihara,Y., Toda,H.,
            Kakuno,T. and Sakiyama,F.
  TITLE     The complete amino acid sequence of subunit d of rat liver
            mitochondrial H(+)-ATP synthase
  JOURNAL   J Biochem 114 (5), 714-717 (1993)
   PUBMED   7509337
REFERENCE   10 (bases 1 to 609)
  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 BC032245.1, BC029392.1,
            BC038092.2 and AA608885.1.
            
            On Nov 22, 2018 this sequence version replaced NM_006356.2.
            
            Summary: Mitochondrial ATP synthase catalyzes ATP synthesis,
            utilizing an electrochemical gradient of protons across the inner
            membrane during oxidative phosphorylation. It is composed of two
            linked multi-subunit complexes: the soluble catalytic core, F1, and
            the membrane-spanning component, Fo, which comprises the proton
            channel. The F1 complex consists of 5 different subunits (alpha,
            beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3
            beta, and a single representative of the other 3. The Fo seems to
            have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene
            encodes the d subunit of the Fo complex. Alternatively spliced
            transcript variants encoding different isoforms have been
            identified for this gene. In addition, three pseudogenes are
            located on chromosomes 9, 12 and 15. [provided by RefSeq, Jun
            2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript, and it encodes the longer isoform a.
            
            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 :: BG706786.1, CD175322.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2142680
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000301587.9/
                                                  ENSP00000301587.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-273               BC032245.1         17-289
            274-333             BC029392.1         262-321
            334-607             BC038092.2         337-610
            608-609             AA608885.1         10-11               c
FEATURES             Location/Qualifiers
     source          1..609
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..609
                     /gene="ATP5PD"
                     /gene_synonym="APT5H; ATP5H; ATPQ"
                     /note="ATP synthase peripheral stalk subunit d"
                     /db_xref="GeneID:10476"
                     /db_xref="HGNC:HGNC:845"
                     /db_xref="MIM:618121"
     exon            1..45
                     /gene="ATP5PD"
                     /gene_synonym="APT5H; ATP5H; ATPQ"
                     /inference="alignment:Splign:2.1.0"
     exon            46..176
                     /gene="ATP5PD"
                     /gene_synonym="APT5H; ATP5H; ATPQ"
                     /inference="alignment:Splign:2.1.0"
     CDS             55..540
                     /gene="ATP5PD"
                     /gene_synonym="APT5H; ATP5H; ATPQ"
                     /EC_number="3.6.1.14"
                     /note="isoform a is encoded by transcript variant 1; ATP
                     synthase, H+ transporting, mitochondrial F0 complex,
                     subunit d; ATP synthase, H+ transporting, mitochondrial
                     F1F0, subunit d; ATP synthase, H+ transporting,
                     mitochondrial Fo complex, subunit d; My032 protein; ATP
                     synthase D chain, mitochondrial; ATP synthase subunit d,
                     mitochondrial; ATPase subunit d; ATP synthase, H+
                     transporting, mitochondrial Fo complex subunit D"
                     /codon_start=1
                     /product="ATP synthase subunit d, mitochondrial isoform a"
                     /protein_id="NP_006347.1"
                     /db_xref="CCDS:CCDS11712.1"
                     /db_xref="GeneID:10476"
                     /db_xref="HGNC:HGNC:845"
                     /db_xref="MIM:618121"
                     /translation="MAGRKLALKTIDWVAFAEIIPQNQKAIASSLKSWNETLTSRLAA
                     LPENPPAIDWAYYKANVAKAGLVDDFEKKFNALKVPVPEDKYTAQVDAEEKEDVKSCA
                     EWVSLSKARIVEYEKEMEKMKNLIPFDQMTIEDLNEAFPETKLDKKKYPYWPHQPIEN
                     L"
     exon            177..273
                     /gene="ATP5PD"
                     /gene_synonym="APT5H; ATP5H; ATPQ"
                     /inference="alignment:Splign:2.1.0"
     exon            274..345
                     /gene="ATP5PD"
                     /gene_synonym="APT5H; ATP5H; ATPQ"
                     /inference="alignment:Splign:2.1.0"
     exon            346..408
                     /gene="ATP5PD"
                     /gene_synonym="APT5H; ATP5H; ATPQ"
                     /inference="alignment:Splign:2.1.0"
     exon            409..609
                     /gene="ATP5PD"
                     /gene_synonym="APT5H; ATP5H; ATPQ"
                     /inference="alignment:Splign:2.1.0"
     regulatory      589..594
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP5PD"
                     /gene_synonym="APT5H; ATP5H; ATPQ"
                     /note="hexamer: ATTAAA"
     polyA_site      609
                     /gene="ATP5PD"
                     /gene_synonym="APT5H; ATP5H; ATPQ"
                     /note="major polyA site"
ORIGIN      
        1 ccgttacttg ctgcggagga ccgtgggcag ccagggtcgg tgaaggatcc caaaatggct
       61 gggcgaaaac ttgctctaaa aaccattgac tgggtagctt ttgcagagat cataccccag
      121 aaccaaaagg ccattgctag ttccctgaaa tcctggaatg agaccctcac ctccaggttg
      181 gctgctttac ctgagaatcc accagctatc gactgggctt actacaaggc caatgtggcc
      241 aaggctggct tggtggatga ctttgagaag aagtttaatg cgctgaaggt tcccgtgcca
      301 gaggataaat atactgccca ggtggatgcc gaagaaaaag aagatgtgaa atcttgtgct
      361 gagtgggtgt ctctctcaaa ggccaggatt gtagaatatg agaaagagat ggagaagatg
      421 aagaacttaa ttccatttga tcagatgacc attgaggact tgaatgaagc tttcccagaa
      481 accaaattag acaagaaaaa gtatccctat tggcctcacc aaccaattga gaatttataa
      541 aattgagtcc aggaggaagc tctggccctt gtattacaca ttctggacat taaaaataat
      601 aattataca
//
