LOCUS       NM_001040613            2046 bp    mRNA    linear   PRI 19-JAN-2025
DEFINITION  Homo sapiens transmembrane protein 70 (TMEM70), transcript variant
            2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001040613
VERSION     NM_001040613.3
KEYWORDS    RefSeq.
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 2046)
  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 2046)
  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 2046)
  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 2046)
  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 2046)
  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 2046)
  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 2046)
  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 2046)
  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 2046)
  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 2046)
  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, BF439499.1,
            BC002748.2 and BM984431.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001040613.2.
            
            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 (2) uses an alternate splice site
            in the 3' coding region, which results in a frameshift, compared to
            variant 1. It encodes isoform b, which has a shorter and distinct
            C-terminus, compared to 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 :: SRR1660803.151458.1, AI800622.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 16582907; reported by
                                                  MitoCarta
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-187               DB483583.1         56-242
            188-642             BF439499.1         11-465
            643-2044            BC002748.2         616-2017
            2045-2046           BM984431.1         12-13               c
FEATURES             Location/Qualifiers
     source          1..2046
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.11"
     gene            1..2046
                     /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..411
                     /gene="TMEM70"
                     /gene_synonym="MC5DN2"
                     /note="isoform b is encoded by transcript variant 2;
                     transmembrane protein 70, mitochondrial; mitochondrial
                     complex V deficiency, nuclear type 1"
                     /codon_start=1
                     /product="transmembrane protein 70, mitochondrial isoform
                     b"
                     /protein_id="NP_001035703.1"
                     /db_xref="CCDS:CCDS47876.1"
                     /db_xref="GeneID:54968"
                     /db_xref="HGNC:HGNC:26050"
                     /db_xref="MIM:612418"
                     /translation="MLFLALGSPWAVELPLCGRRTALCAAAALRGPRASVSRASSSSG
                     PSGPVAGWSTGPSGAARLLRRPGRAQIPVYWEGYVRFLNTPSDKSEDGRLIYTGNMAR
                     AVFGK"
     exon            298..417
                     /gene="TMEM70"
                     /gene_synonym="MC5DN2"
                     /inference="alignment:Splign:2.1.0"
     exon            418..2046
                     /gene="TMEM70"
                     /gene_synonym="MC5DN2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1038..1043
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM70"
                     /gene_synonym="MC5DN2"
                     /note="hexamer: AACAAG"
     polyA_site      1062
                     /gene="TMEM70"
                     /gene_synonym="MC5DN2"
                     /note="major polyA site"
     regulatory      1100..1105
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM70"
                     /gene_synonym="MC5DN2"
                     /note="hexamer: AATAAA"
     polyA_site      1126
                     /gene="TMEM70"
                     /gene_synonym="MC5DN2"
     regulatory      2028..2033
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM70"
                     /gene_synonym="MC5DN2"
                     /note="hexamer: ATTAAA"
     polyA_site      2046
                     /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 ttggtaagta attggaggtg
      421 tgaaatgttt ctcttattct acgagtctga ttggccttac atttctgcca tacattttta
      481 cacaaaataa tgctatttct gaaagtgtgc ctctgcctat tcaaatcata ttctatggca
      541 tcatgggaag ctttacggtg atcaccccag tgctgcttca ctttattaca aaaggctatg
      601 tcattcgatt gtaccatgag gccacaacag acacttataa agccattacc tacaatgcta
      661 tgcttgcaga aacgagtaca gtgtttcacc agaatgatgt gaagattcca gatgctaaac
      721 atgtatttac cacattttat gctaaaacaa aatcactgtt agttaatcca gtgctctttc
      781 caaaccgtga agactatatc catctaatgg gttatgacaa agaagaattt attttgtata
      841 tggaagaaac cagtgaagag aaacggcata aagatgacaa atgagcctat ttgttagtgt
      901 tcgtgctcaa atgtgattta cgttttaatg tataataata aaattgcctt ttgcattccg
      961 ttagtgactg attgttaaaa ataatttgaa attatcaaag cttttaattt ccagagaatg
     1021 atgtttgttt ataataaaac aagctatgtt tgaaaaccaa aatgtagtat ctaccattcg
     1081 tgttttagaa aggtatgtga ataaatatgt tcatgctagt ataagagttc tgtgttactg
     1141 tggttgactc taaactgggg atctgatgtc agtagcaaat gggagagttg ctttattctt
     1201 tgtgtatgga tttttctaag tgtataaata ttttccgaca ttaaaagaca ttttctcttt
     1261 gaggaagaca cagtcatagg tggtgcggag ctgtggtcca cctgctcctg ctcctgactc
     1321 actgctcttt gctgttgcct gaggaccaag tctgtcagga agctggctag gaagccttgc
     1381 agcagccatg gcttttaaac ataccagaaa aacacccgtg gagtcagagg tggcaattca
     1441 ccgaattcat atcactctaa cgagttgcaa cgtaaaatcc ctggataagg tgtgtgctga
     1501 cttgatctga ggagcaaagg aaaagaatca gtgaaaggac cagtttgaat gcctaccaag
     1561 actttgagaa tcactacaag aaaaacttac ggtgaaggtt ctaaggcatg ggatcgtttc
     1621 cagatgagaa tccacaagcg actcattgac ttgcgcagtc ctcagatagt taagcagatt
     1681 acttccatca gtattgagcc aggagttgag atggaagtca ccattgcaaa tgcttaagtc
     1741 aactgttttc ataaattgat taccagttgt taaaaaattt tcaaaaaacc gcaaaatttc
     1801 aagaaattca caaattatgg gagcagtttt aagtcttctt tggttcagaa cacaggtttt
     1861 tgcctaaccc ctggcatgat tgcccataag aacatacatg tacagttgaa ctggtggtta
     1921 gctatacggg aaatggtaag tagtgttgtc ttcagtatct taatttgttt ctgcaactgt
     1981 gcactcctcc cttggtggca ccctatgggt gtaggaaaac cactgttatt aaacaggtga
     2041 aaaata
//
