LOCUS       NM_017866               2032 bp    mRNA    linear   PRI 19-JAN-2025
DEFINITION  Homo sapiens transmembrane protein 70 (TMEM70), transcript variant
            1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_017866
VERSION     NM_017866.6
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 2032)
  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 2032)
  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
  REMARK    GeneRIF: TMEM70 forms oligomeric scaffolds within mitochondrial
            cristae promoting in situ assembly of mammalian ATP synthase proton
            channel.
REFERENCE   3  (bases 1 to 2032)
  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
  REMARK    GeneRIF: TMEM70 and TMEM242 help to assemble the rotor ring of
            human ATP synthase and interact with assembly factors for complex
            I.
REFERENCE   4  (bases 1 to 2032)
  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   5  (bases 1 to 2032)
  AUTHORS   Karasik,D., Hsu,Y.H., Zhou,Y., Cupples,L.A., Kiel,D.P. and
            Demissie,S.
  TITLE     Genome-wide pleiotropy of osteoporosis-related phenotypes: the
            Framingham Study
  JOURNAL   J Bone Miner Res 25 (7), 1555-1563 (2010)
   PUBMED   20200953
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   6  (bases 1 to 2032)
  AUTHORS   Honzik,T., Tesarova,M., Mayr,J.A., Hansikova,H., Jesina,P.,
            Bodamer,O., Koch,J., Magner,M., Freisinger,P., Huemer,M.,
            Kostkova,O., van Coster,R., Kmoch,S., Houstek,J., Sperl,W. and
            Zeman,J.
  TITLE     Mitochondrial encephalocardio-myopathy with early neonatal onset
            due to TMEM70 mutation
  JOURNAL   Arch Dis Child 95 (4), 296-301 (2010)
   PUBMED   20335238
  REMARK    GeneRIF: ATP synthase deficiency with mutation in TMEM70 should be
            considered in the diagnosis and management of ill neonates with
            early onset of muscular hypotonia, HCMP and hypospadias in boys
            accompanied by lactic acidosis, hyperammonaemia and 3-MGC-uria.
REFERENCE   7  (bases 1 to 2032)
  AUTHORS   Davila,S., Froeling,F.E., Tan,A., Bonnard,C., Boland,G.J.,
            Snippe,H., Hibberd,M.L. and Seielstad,M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2032)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 2032)
  AUTHORS   Houstek,J., Kmoch,S. and Zeman,J.
  TITLE     TMEM70 protein - a novel ancillary factor of mammalian ATP synthase
  JOURNAL   Biochim Biophys Acta 1787 (5), 529-532 (2009)
   PUBMED   19103153
  REMARK    GeneRIF: Gene mapping and complementation studies have identified
            mutations in TMEM70 gene encoding a 30kD mitochondrial protein of
            unknown function as the cause of hypertrophic cardiomyopathy and
            encephalopathy.
REFERENCE   10 (bases 1 to 2032)
  AUTHORS   Cizkova,A., Stranecky,V., Mayr,J.A., Tesarova,M., Havlickova,V.,
            Paul,J., Ivanek,R., Kuss,A.W., Hansikova,H., Kaplanova,V.,
            Vrbacky,M., Hartmannova,H., Noskova,L., Honzik,T., Drahota,Z.,
            Magner,M., Hejzlarova,K., Sperl,W., Zeman,J., Houstek,J. and
            Kmoch,S.
  TITLE     TMEM70 mutations cause isolated ATP synthase deficiency and
            neonatal mitochondrial encephalocardiomyopathy
  JOURNAL   Nat Genet 40 (11), 1288-1290 (2008)
   PUBMED   18953340
  REMARK    GeneRIF: TMEM70 is involved in mitochondrial ATP synthase
            biogenesis in higher eukaryotes.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB483583.1, BC002748.2 and
            BM984431.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_017866.5.
            
            Summary: This gene likely encodes a mitochondrial membrane protein.
            The encoded protein may play a role in biogenesis of mitochondrial
            ATP synthase. Mutations in this gene have been associated with
            neonatal mitochondrial encephalocardiomyopathy due to ATP synthase
            deficiency. Alternatively spliced transcript variants have been
            described. [provided by RefSeq, Feb 2010].
            
            Transcript Variant: This variant (1) represents the shortest
            transcript and 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 :: SRR3476690.1029391.1,
                                           SRR1660805.162630.1 [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. :: PMID: 16582907; reported by
                                                  MitoCarta
            MANE Ensembl match                 :: ENST00000312184.6/
                                                  ENSP00000312599.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                DB483583.1         56-69
            15-2030             BC002748.2         2-2017
            2031-2032           BM984431.1         12-13               c
FEATURES             Location/Qualifiers
     source          1..2032
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.11"
     gene            1..2032
                     /gene="TMEM70"
                     /gene_synonym="MC5DN2"
                     /note="transmembrane protein 70"
                     /db_xref="GeneID:54968"
                     /db_xref="HGNC:HGNC:26050"
                     /db_xref="MIM:612418"
     exon            1..297
                     /gene="TMEM70"
                     /gene_synonym="MC5DN2"
                     /inference="alignment:Splign:2.1.0"
     CDS             88..870
                     /gene="TMEM70"
                     /gene_synonym="MC5DN2"
                     /note="isoform a is encoded by transcript variant 1;
                     transmembrane protein 70, mitochondrial; mitochondrial
                     complex V deficiency, nuclear type 1"
                     /codon_start=1
                     /product="transmembrane protein 70, mitochondrial isoform
                     a"
                     /protein_id="NP_060336.3"
                     /db_xref="CCDS:CCDS6215.1"
                     /db_xref="GeneID:54968"
                     /db_xref="HGNC:HGNC:26050"
                     /db_xref="MIM:612418"
                     /translation="MLFLALGSPWAVELPLCGRRTALCAAAALRGPRASVSRASSSSG
                     PSGPVAGWSTGPSGAARLLRRPGRAQIPVYWEGYVRFLNTPSDKSEDGRLIYTGNMAR
                     AVFGVKCFSYSTSLIGLTFLPYIFTQNNAISESVPLPIQIIFYGIMGSFTVITPVLLH
                     FITKGYVIRLYHEATTDTYKAITYNAMLAETSTVFHQNDVKIPDAKHVFTTFYAKTKS
                     LLVNPVLFPNREDYIHLMGYDKEEFILYMEETSEEKRHKDDK"
     exon            298..403
                     /gene="TMEM70"
                     /gene_synonym="MC5DN2"
                     /inference="alignment:Splign:2.1.0"
     exon            404..2032
                     /gene="TMEM70"
                     /gene_synonym="MC5DN2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1024..1029
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM70"
                     /gene_synonym="MC5DN2"
                     /note="hexamer: AACAAG"
     polyA_site      1048
                     /gene="TMEM70"
                     /gene_synonym="MC5DN2"
                     /note="major polyA site"
     regulatory      1086..1091
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM70"
                     /gene_synonym="MC5DN2"
                     /note="hexamer: AATAAA"
     polyA_site      1112
                     /gene="TMEM70"
                     /gene_synonym="MC5DN2"
     regulatory      2014..2019
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM70"
                     /gene_synonym="MC5DN2"
                     /note="hexamer: ATTAAA"
     polyA_site      2032
                     /gene="TMEM70"
                     /gene_synonym="MC5DN2"
ORIGIN      
        1 acttgtgcgg cagtcgggtg ggaagccgtg tctcgcagtc gtggactcgt gcagctgggg
       61 cgtccgcagc cgctcgtcac ccgcgtgatg ctgtttctgg cgttgggcag cccgtgggcg
      121 gtcgaactgc ctctctgcgg aaggaggact gcattgtgtg cggccgccgc gctccgaggt
      181 ccccgggcct ctgtctcccg ggcgtcctcc agcagcgggc cttcggggcc ggtagccggc
      241 tggagtacgg ggccttcggg agccgcgcgc cttctccggc gtccgggtcg agcgcagatc
      301 cctgtttatt gggaaggata tgttcgattc ttaaatacgc catctgacaa atcagaagat
      361 ggaaggctaa tttatactgg caatatggcc cgagcagtgt ttggtgtgaa atgtttctct
      421 tattctacga gtctgattgg ccttacattt ctgccataca tttttacaca aaataatgct
      481 atttctgaaa gtgtgcctct gcctattcaa atcatattct atggcatcat gggaagcttt
      541 acggtgatca ccccagtgct gcttcacttt attacaaaag gctatgtcat tcgattgtac
      601 catgaggcca caacagacac ttataaagcc attacctaca atgctatgct tgcagaaacg
      661 agtacagtgt ttcaccagaa tgatgtgaag attccagatg ctaaacatgt atttaccaca
      721 ttttatgcta aaacaaaatc actgttagtt aatccagtgc tctttccaaa ccgtgaagac
      781 tatatccatc taatgggtta tgacaaagaa gaatttattt tgtatatgga agaaaccagt
      841 gaagagaaac ggcataaaga tgacaaatga gcctatttgt tagtgttcgt gctcaaatgt
      901 gatttacgtt ttaatgtata ataataaaat tgccttttgc attccgttag tgactgattg
      961 ttaaaaataa tttgaaatta tcaaagcttt taatttccag agaatgatgt ttgtttataa
     1021 taaaacaagc tatgtttgaa aaccaaaatg tagtatctac cattcgtgtt ttagaaaggt
     1081 atgtgaataa atatgttcat gctagtataa gagttctgtg ttactgtggt tgactctaaa
     1141 ctggggatct gatgtcagta gcaaatggga gagttgcttt attctttgtg tatggatttt
     1201 tctaagtgta taaatatttt ccgacattaa aagacatttt ctctttgagg aagacacagt
     1261 cataggtggt gcggagctgt ggtccacctg ctcctgctcc tgactcactg ctctttgctg
     1321 ttgcctgagg accaagtctg tcaggaagct ggctaggaag ccttgcagca gccatggctt
     1381 ttaaacatac cagaaaaaca cccgtggagt cagaggtggc aattcaccga attcatatca
     1441 ctctaacgag ttgcaacgta aaatccctgg ataaggtgtg tgctgacttg atctgaggag
     1501 caaaggaaaa gaatcagtga aaggaccagt ttgaatgcct accaagactt tgagaatcac
     1561 tacaagaaaa acttacggtg aaggttctaa ggcatgggat cgtttccaga tgagaatcca
     1621 caagcgactc attgacttgc gcagtcctca gatagttaag cagattactt ccatcagtat
     1681 tgagccagga gttgagatgg aagtcaccat tgcaaatgct taagtcaact gttttcataa
     1741 attgattacc agttgttaaa aaattttcaa aaaaccgcaa aatttcaaga aattcacaaa
     1801 ttatgggagc agttttaagt cttctttggt tcagaacaca ggtttttgcc taacccctgg
     1861 catgattgcc cataagaaca tacatgtaca gttgaactgg tggttagcta tacgggaaat
     1921 ggtaagtagt gttgtcttca gtatcttaat ttgtttctgc aactgtgcac tcctcccttg
     1981 gtggcaccct atgggtgtag gaaaaccact gttattaaac aggtgaaaaa ta
//
