LOCUS       NM_032174               2790 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens translocase of outer mitochondrial membrane 40 like
            (TOMM40L), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_032174
VERSION     NM_032174.6
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 2790)
  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 2790)
  AUTHORS   Cardoso,R., Lemos,C., Oliveiros,B., Almeida,M.R., Baldeiras,I.,
            Pereira,C.F., Santos,A., Duro,D., Vieira,D., Santana,I. and
            Oliveira,C.R.
  TITLE     APOEvarepsilon4-TOMM40L Haplotype Increases the Risk of Mild
            Cognitive Impairment Conversion to Alzheimer's Disease
  JOURNAL   J Alzheimers Dis 78 (2), 587-601 (2020)
   PUBMED   33016906
  REMARK    GeneRIF: APOEvarepsilon4-TOMM40L Haplotype Increases the Risk of
            Mild Cognitive Impairment Conversion to Alzheimer's Disease.
REFERENCE   3  (bases 1 to 2790)
  AUTHORS   Shin,S.Y., Fauman,E.B., Petersen,A.K., Krumsiek,J., Santos,R.,
            Huang,J., Arnold,M., Erte,I., Forgetta,V., Yang,T.P., Walter,K.,
            Menni,C., Chen,L., Vasquez,L., Valdes,A.M., Hyde,C.L., Wang,V.,
            Ziemek,D., Roberts,P., Xi,L., Grundberg,E., Waldenberger,M.,
            Richards,J.B., Mohney,R.P., Milburn,M.V., John,S.L., Trimmer,J.,
            Theis,F.J., Overington,J.P., Suhre,K., Brosnan,M.J., Gieger,C.,
            Kastenmuller,G., Spector,T.D. and Soranzo,N.
  CONSRTM   Multiple Tissue Human Expression Resource (MuTHER) Consortium
  TITLE     An atlas of genetic influences on human blood metabolites
  JOURNAL   Nat Genet 46 (6), 543-550 (2014)
   PUBMED   24816252
REFERENCE   4  (bases 1 to 2790)
  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   5  (bases 1 to 2790)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK027704.1, AL590714.27 and CA411898.1.
            
            On Nov 22, 2018 this sequence version replaced NM_032174.5.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK027704.1, SRR3476690.627551.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000367988.8/
                                                  ENSP00000356967.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-98                AK027704.1         1-98
            99-99               AL590714.27        81556-81556
            100-1829            AK027704.1         100-1829
            1830-2741           AL590714.27        84966-85877
            2742-2790           CA411898.1         17-65               c
FEATURES             Location/Qualifiers
     source          1..2790
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     gene            1..2790
                     /gene="TOMM40L"
                     /gene_synonym="TOMM40B"
                     /note="translocase of outer mitochondrial membrane 40
                     like"
                     /db_xref="GeneID:84134"
                     /db_xref="HGNC:HGNC:25756"
     exon            1..77
                     /gene="TOMM40L"
                     /gene_synonym="TOMM40B"
                     /inference="alignment:Splign:2.1.0"
     exon            78..327
                     /gene="TOMM40L"
                     /gene_synonym="TOMM40B"
                     /inference="alignment:Splign:2.1.0"
     CDS             213..1139
                     /gene="TOMM40L"
                     /gene_synonym="TOMM40B"
                     /note="isoform 1 is encoded by transcript variant 1;
                     mitochondrial import receptor subunit TOM40B; protein
                     TOMM40-like; translocase of outer mitochondrial membrane
                     40 homolog-like"
                     /codon_start=1
                     /product="mitochondrial import receptor subunit TOM40B
                     isoform 1"
                     /protein_id="NP_115550.2"
                     /db_xref="CCDS:CCDS1227.1"
                     /db_xref="GeneID:84134"
                     /db_xref="HGNC:HGNC:25756"
                     /translation="MGNTLGLAPMGTLPRRSPRREEPLPNPGSFDELHRLCKDVFPAQ
                     MEGVKLVVNKVLSSHFQVAHTIHMSALGLPGYHLHAAYAGDWQLSPTEVFPTVVGDMD
                     SSGSLNAQVLLLLAERLRAKAVFQTQQAKFLTWQFDGEYRGDDYTATLTLGNPDLIGE
                     SVIMVAHFLQSLTHRLVLGGELVYHRRPGEEGAILTLAGKYSAVHWVATLNVGSGGAH
                     ASYYHRANEQVQVGVEFEANTRLQDTTFSFGYHLTLPQANMVFRGLVDSNWCVGAVLE
                     KKMPPLPVTLALGAFLNHWRNRFHCGFSITVG"
     exon            328..395
                     /gene="TOMM40L"
                     /gene_synonym="TOMM40B"
                     /inference="alignment:Splign:2.1.0"
     exon            396..488
                     /gene="TOMM40L"
                     /gene_synonym="TOMM40B"
                     /inference="alignment:Splign:2.1.0"
     exon            489..590
                     /gene="TOMM40L"
                     /gene_synonym="TOMM40B"
                     /inference="alignment:Splign:2.1.0"
     exon            591..696
                     /gene="TOMM40L"
                     /gene_synonym="TOMM40B"
                     /inference="alignment:Splign:2.1.0"
     exon            697..819
                     /gene="TOMM40L"
                     /gene_synonym="TOMM40B"
                     /inference="alignment:Splign:2.1.0"
     exon            820..896
                     /gene="TOMM40L"
                     /gene_synonym="TOMM40B"
                     /inference="alignment:Splign:2.1.0"
     exon            897..999
                     /gene="TOMM40L"
                     /gene_synonym="TOMM40B"
                     /inference="alignment:Splign:2.1.0"
     exon            1000..2790
                     /gene="TOMM40L"
                     /gene_synonym="TOMM40B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2629..2634
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TOMM40L"
                     /gene_synonym="TOMM40B"
                     /note="hexamer: AATAAA"
     polyA_site      2651
                     /gene="TOMM40L"
                     /gene_synonym="TOMM40B"
                     /note="major polyA site"
     regulatory      2769..2774
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TOMM40L"
                     /gene_synonym="TOMM40B"
                     /note="hexamer: AGTAAA"
     polyA_site      2790
                     /gene="TOMM40L"
                     /gene_synonym="TOMM40B"
ORIGIN      
        1 atcactcaag atggctgccc ccatcaagat gaccggggtg tgccgggggg aaaggggcag
       61 catgatggtc tgagatggtg tagcgtcgga ccatgtggaa gtttctgagg ctggggagcc
      121 ggataatggg gggtggggcc cgttgggggg taaaggggca atagcgtcct ttcacaggct
      181 aacctcggct cttcccagtc ctctggacta aaatggggaa cacattgggc ctggcaccaa
      241 tggggacttt gccccgccgg agcccccgcc gagaggaacc cctgcccaac cctgggagct
      301 tcgatgagct gcaccgtcta tgcaaagatg tattcccagc acagatggag ggagtgaagc
      361 tcgttgtcaa caaggttctg agcagccatt tccaggtggc gcacactata cacatgagtg
      421 ccctgggctt gccgggatat cacctccatg cggcctatgc aggggattgg cagctcagtc
      481 ccactgaggt gttccccact gtggtagggg atatggacag cagtggcagc ctgaacgccc
      541 aggtcttgct cctcttggca gagcggctcc gagctaaggc tgtcttccag acgcagcagg
      601 ccaagttcct gacatggcag tttgatggcg agtatcgggg agatgactac acagccactc
      661 tgaccctagg aaatcctgac ctgattgggg agtcggtgat catggttgct cacttcctgc
      721 agagcctcac tcatcggctg gtgctgggag gagagctagt ttatcaccgg cggccaggcg
      781 aagagggggc catcttgaca ctggctggga agtactcggc tgtacactgg gtagctacat
      841 tgaatgtggg atcaggcggg gcccatgcaa gttactacca cagggcaaat gaacaggttc
      901 aggttggagt ggagtttgag gcaaacacaa ggctacaaga cacaacattc tcctttggtt
      961 accacctgac tctgccccag gccaacatgg tatttagagg cttggtggat agtaactggt
     1021 gtgtaggtgc tgtgctggag aagaagatgc cccctctgcc tgtcacccta gcccttggag
     1081 ccttcctcaa tcactggcgc aacagattcc attgtggctt cagcatcact gtgggctgag
     1141 gttgtccaga gccagccccc acagcagctg gaacctctga gtcaggtgcc ctagggccaa
     1201 agactaggcc cctcttcaga gcccaccttg ctgggtgatc tctaggaccc aggagcagag
     1261 tggtggacag gaccatgccc tcctcagaac tggagctgcc acaggggcag ttgatgaggc
     1321 agaggtttga ggatcccccc tctgctacca gccccagtat caccttcccc atgctcttgt
     1381 ggctgtggac taagggagaa ggattaaggg gtatggctga attcccccgg caccccttgc
     1441 cctcaggctt ccttcttcct ttccctttgg ttaatcctgc atgggattag ctgaccatcc
     1501 tgttttccat cccagagcct cccaaggctg ggaaagtagg gctgaagggc tagatgtttg
     1561 gtctcaggaa gtggggccca cccattccca gaaggagctt ctttacctct tagccctgag
     1621 gtttcctcct tcccatcttc tgtgcttcca gagaacaact ttgttcctat ggtcaccccc
     1681 actatcccca tgaccgcatg aagaggcagt tattgcttta gtctttcatt gcaaccactg
     1741 ggctcccttt gaacccggcc caatctttgg tcccagcatt ttcccactcc agtgtatcca
     1801 gggtgttcca ggtgagctgg ggaaggaagt gagcatggcc tcagctgcag atctcctgga
     1861 gcagcggcat catggcagac aggccctgga tgtgctggat ttggtacccg taggcctcat
     1921 taatgctccg gagctcagcc agcaggccta gcaacttcgc atacagaaac ctttggagga
     1981 agtagtgggg ttgccaggaa aacaggaggg aaataaggca gttgggagtc ttgtctctag
     2041 gccctgatcc cctgaactat tcctcagtga agccaggtct gaacattaga gaaaatcatg
     2101 ctctggtatg acagactatc agaggttcca aaggtcctcc agggggcctc ggtctgacac
     2161 tgtcttctct caccatgctc agttttttct gaacccagag ctctgagagc cgagtgtgaa
     2221 gaaagctcca gacttggcca gaactccaac catgtggaat ctgagggcct ggccttctag
     2281 agcaggttct agaaggtgga tgtgttctat ggtataaagc atcccctttc tggccaaact
     2341 agctcttgga ggaacgagca aaacagaagc ggtgcatacc tcagagcctg gataaatcac
     2401 agactattga acctggaact ggctttgacc atgaaactgt gaatggccct aacttcaagg
     2461 gaaatgagaa atcgaaggaa ttggcccaat ggcgaggaga ggaaaggcca agggaagaga
     2521 aaagtctgcg ttagtctgga gaagttggac tagtgaggta atggatgtca tcaatctcag
     2581 gaatgctatt acccagagcc tctgagctac tactttgcat ctgtactgaa taaaaaaaaa
     2641 atctggaaaa agtgagatga aacagcagta tccaaataca gcaatttgga tgctgaaacg
     2701 atgtgagaca gggatggcca gggggaagga ctagacccca cgatacctga attccctaag
     2761 gaaaggacag taaaaaaaca ttcctcccaa
//
