LOCUS       NM_016589               2379 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens translocase of inner mitochondrial membrane domain
            containing 1 (TIMMDC1), mRNA; nuclear gene for mitochondrial
            product.
ACCESSION   NM_016589
VERSION     NM_016589.4
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 2379)
  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 2379)
  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   3  (bases 1 to 2379)
  AUTHORS   Fang,H., Ye,X., Xie,J., Li,Y., Li,H., Bao,X., Yang,Y., Lin,Z.,
            Jia,M., Han,Q., Zhu,J., Li,X., Zhao,Q., Yang,Y. and Lyu,J.
  TITLE     A membrane arm of mitochondrial complex I sufficient to promote
            respirasome formation
  JOURNAL   Cell Rep 35 (2), 108963 (2021)
   PUBMED   33852835
  REMARK    GeneRIF: A membrane arm of mitochondrial complex I sufficient to
            promote respirasome formation.
REFERENCE   4  (bases 1 to 2379)
  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   5  (bases 1 to 2379)
  AUTHORS   Naber,M., Hellebrekers,D., Nievelstein,R.A.J., van Hasselt,P.M.,
            van Jaarsveld,R.H., Cuppen,I. and Oegema,R.
  TITLE     Deep intronic TIMMDC1 variant delays diagnosis of rapidly
            progressive complex I deficiency
  JOURNAL   Eur J Med Genet 64 (1), 104120 (2021)
   PUBMED   33278652
  REMARK    GeneRIF: Deep intronic TIMMDC1 variant delays diagnosis of rapidly
            progressive complex I deficiency.
REFERENCE   6  (bases 1 to 2379)
  AUTHORS   Girard,A., Sachidanandam,R., Hannon,G.J. and Carmell,M.A.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   7  (bases 1 to 2379)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   8  (bases 1 to 2379)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   9  (bases 1 to 2379)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   10 (bases 1 to 2379)
  AUTHORS   Escarceller,M., Pluvinet,R., Sumoy,L. and Estivill,X.
  TITLE     Identification and expression analysis of C3orf1, a novel human
            gene homologous to the Drosophila RP140-upstream gene
  JOURNAL   DNA Seq 11 (3-4), 335-338 (2000)
   PUBMED   11092749
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG705703.1, AF139077.1, CB105366.1 and AC073352.22.
            
            On May 17, 2019 this sequence version replaced NM_016589.3.
            
            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 :: SRR3476690.163677.1,
                                           SRR5189655.173571.1 [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. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000494664.6/
                                                  ENSP00000418803.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-212               BG705703.1         76-287
            213-1371            AF139077.1         212-1370
            1372-1570           CB105366.1         94-292
            1571-2379           AC073352.22        117465-118273       c
FEATURES             Location/Qualifiers
     source          1..2379
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.33"
     gene            1..2379
                     /gene="TIMMDC1"
                     /gene_synonym="C3orf1; MC1DN31"
                     /note="translocase of inner mitochondrial membrane domain
                     containing 1"
                     /db_xref="GeneID:51300"
                     /db_xref="HGNC:HGNC:1321"
                     /db_xref="MIM:615534"
     exon            1..381
                     /gene="TIMMDC1"
                     /gene_synonym="C3orf1; MC1DN31"
                     /inference="alignment:Splign:2.1.0"
     CDS             188..1045
                     /gene="TIMMDC1"
                     /gene_synonym="C3orf1; MC1DN31"
                     /note="M5-14 protein; transmembrane protein C3orf1;
                     translocase of inner mitochondrial membrane
                     domain-containing protein 1; complex I assembly factor
                     TIMMDC1, mitochondrial; TIMM domain containing-protein 1"
                     /codon_start=1
                     /product="complex I assembly factor TIMMDC1, mitochondrial
                     precursor"
                     /protein_id="NP_057673.2"
                     /db_xref="CCDS:CCDS33831.1"
                     /db_xref="GeneID:51300"
                     /db_xref="HGNC:HGNC:1321"
                     /db_xref="MIM:615534"
                     /translation="MEVPPPAPRSFLCRALCLFPRVFAAEAVTADSEVLEERQKRLPY
                     VPEPYYPESGWDRLRELFGKDEQQRISKDLANICKTAATAGIIGWVYGGIPAFIHAKQ
                     QYIEQSQAEIYHNRFDAVQSAHRAATRGFIRYGWRWGWRTAVFVTIFNTVNTSLNVYR
                     NKDALSHFVIAGAVTGSLFRINVGLRGLVAGGIIGALLGTPVGGLLMAFQKYSGETVQ
                     ERKQKDRKALHELKLEEWKGRLQVTEHLPEKIESSLQEDEPENDAKKIEALLNLPRNP
                     SVIDKQDKD"
     exon            382..547
                     /gene="TIMMDC1"
                     /gene_synonym="C3orf1; MC1DN31"
                     /inference="alignment:Splign:2.1.0"
     exon            548..636
                     /gene="TIMMDC1"
                     /gene_synonym="C3orf1; MC1DN31"
                     /inference="alignment:Splign:2.1.0"
     exon            637..704
                     /gene="TIMMDC1"
                     /gene_synonym="C3orf1; MC1DN31"
                     /inference="alignment:Splign:2.1.0"
     exon            705..783
                     /gene="TIMMDC1"
                     /gene_synonym="C3orf1; MC1DN31"
                     /inference="alignment:Splign:2.1.0"
     exon            784..894
                     /gene="TIMMDC1"
                     /gene_synonym="C3orf1; MC1DN31"
                     /inference="alignment:Splign:2.1.0"
     exon            895..2379
                     /gene="TIMMDC1"
                     /gene_synonym="C3orf1; MC1DN31"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1330..1335
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TIMMDC1"
                     /gene_synonym="C3orf1; MC1DN31"
                     /note="hexamer: AATAAA"
     polyA_site      1371
                     /gene="TIMMDC1"
                     /gene_synonym="C3orf1; MC1DN31"
                     /note="major polyA site"
     regulatory      1552..1557
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TIMMDC1"
                     /gene_synonym="C3orf1; MC1DN31"
                     /note="hexamer: AATACA"
     regulatory      1563..1568
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TIMMDC1"
                     /gene_synonym="C3orf1; MC1DN31"
                     /note="hexamer: AACAAA"
     polyA_site      1570
                     /gene="TIMMDC1"
                     /gene_synonym="C3orf1; MC1DN31"
     polyA_site      1589
                     /gene="TIMMDC1"
                     /gene_synonym="C3orf1; MC1DN31"
ORIGIN      
        1 gtcgtatttc caaggactcc aaagcgaggc cggggactga aggtgtgggt gtcgagccct
       61 ctggcagagg gttaacctgg gtcaaatgca cggattctca cctcgtacag ttacgctctc
      121 ccgcggcacg tccgcgagga cttgaagtcc tgagcgctca agtttgtccg taggtcgaga
      181 gaaggccatg gaggtgccgc caccggcacc gcggagcttt ctctgtagag cattgtgcct
      241 atttccccga gtctttgctg ccgaagctgt gactgccgat tcggaagtcc ttgaggagcg
      301 tcagaagcgg cttccctacg tcccagagcc ctattacccg gaatctggat gggaccgcct
      361 ccgggagctg tttggcaaag atgaacagca gagaatttca aaggaccttg ctaatatctg
      421 taagacggca gctacagcag gcatcattgg ctgggtgtat gggggaatac cagcttttat
      481 tcatgctaaa caacaataca ttgagcagag ccaggcagaa atttatcata accggtttga
      541 tgctgtgcaa tctgcacatc gtgctgccac acgaggcttc attcgttatg gctggcgctg
      601 gggttggaga actgcagtgt ttgtgactat attcaacaca gtgaacacta gtctgaatgt
      661 ataccgaaat aaagatgcct taagccattt tgtaattgca ggagctgtca cgggaagtct
      721 ttttaggata aacgtaggcc tgcgtggcct ggtggctggt ggcataattg gagccttgct
      781 gggcactcct gtaggaggcc tgctgatggc atttcagaag tactctggtg agactgttca
      841 ggaaagaaaa cagaaggatc gaaaggcact ccatgagcta aaactggaag agtggaaagg
      901 cagactacaa gttactgagc acctccctga gaaaattgaa agtagtttac aggaagatga
      961 acctgagaat gatgctaaga aaattgaagc actgctaaac cttcctagaa acccttcagt
     1021 aatagataaa caagacaagg actgaaagtg ctctgaactt gaaactcact ggagagctga
     1081 agggagctgc catgtccgat gaatgccaac agacaggcca ctctttggtc agcctgctga
     1141 caaatttaag tgctggtacc tgtggtggca gtggcttgct cttgtctttt tcttttcttt
     1201 ttaactaaga atggggctgt tgtactctca ctttacttat ccttaaattt aaatacatac
     1261 ttatgtttgt attaatctat caatatatgc atacatgaat atatccaccc acctagattt
     1321 taagcagtaa ataaaacatt tcgcaaaaga ttaaagttga attttacagt tcgtatattc
     1381 atgtggtcct ttgaaagggt attctagaaa tcactggaaa gaggagagga aagaaccagg
     1441 taggcaaatg gtctgtgaaa cccttgggtc ctggaagcag tgtgagtgta aatgtgtagt
     1501 gtttggtttc atctaaataa acaaagatga tttctttgac acttgaaata aaatacaaat
     1561 tcaacaaaaa gtagatcagc attattaaag aaacggttca actttgtttc ttcccttagt
     1621 attgctgaca aagtatctgc tgtagaatac aggaattact tagaatagaa acatagtcat
     1681 cacaactgtt actaaatgga aaagaaaaga attattgagt taagtattcc tgtcaatacg
     1741 ggaaacactg ctagtacctt atgttggtgt tagacctctc tgccctacac tgagaatata
     1801 gttttacaca ggagcaaggt ttgtgaagca gcatagtgag gtagctaaag ccatgggctg
     1861 gctctaaagg ctttaaatcc cagccatgtg gcttagctgc catgagatgt gcatttgaga
     1921 aatgttgtct tcttttgctg ttcaactcca gattttcaga tgataatgtg attatcccag
     1981 cttaagttgc gtccacttct ggtctagtga attgtggaag gcagttttag agaaaggagt
     2041 catgagtaac atgaacagca gttggctatg tctttccagt tctctgctga tgtcagaaag
     2101 acccagaaat accaaggaga aaaagccatc ttagggatct aaggaggccc tatggaaagt
     2161 tactacctta gacatttgaa gatagcttac tgcttagtac atacactgta aacaacgatc
     2221 tcattttaaa tgagaacttt ctcataaata ttttacaaat gaggtcaaac tagcataaag
     2281 ccatttaaag agattatcag tccaatatga accagttaag tctttggact atccctttcc
     2341 tccttgacta ctgctttgac gtacctaaat cattcgtct
//
