LOCUS       NM_001128917            1768 bp    mRNA    linear   PRI 04-MAR-2025
DEFINITION  Homo sapiens translocase of outer mitochondrial membrane 40
            (TOMM40), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_001128917
VERSION     NM_001128917.2
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 1768)
  AUTHORS   Hui,Y., Leng,J., Jin,D., Wang,G., Liu,K., Bu,Y. and Wang,Q.
  TITLE     BRG1 promotes liver cancer cell proliferation and metastasis by
            enhancing mitochondrial function and ATP5A1 synthesis through
            TOMM40
  JOURNAL   Cancer Biol Ther 25 (1), 2375440 (2024)
   PUBMED   38978225
  REMARK    GeneRIF: BRG1 promotes liver cancer cell proliferation and
            metastasis by enhancing mitochondrial function and ATP5A1 synthesis
            through TOMM40.
REFERENCE   2  (bases 1 to 1768)
  AUTHORS   Honea,R.A., Hunt,S., Lepping,R.J., Vidoni,E.D., Morris,J.K.,
            Watts,A., Michaelis,E., Burns,J.M. and Swerdlow,R.H.
  TITLE     Alzheimer's disease cortical morphological phenotypes are
            associated with TOMM40'523-APOE haplotypes
  JOURNAL   Neurobiol Aging 132, 131-144 (2023)
   PUBMED   37804609
  REMARK    GeneRIF: Alzheimer's disease cortical morphological phenotypes are
            associated with TOMM40'523-APOE haplotypes.
REFERENCE   3  (bases 1 to 1768)
  AUTHORS   Chen,Y.C., Chang,S.C., Lee,Y.S., Ho,W.M., Huang,Y.H., Wu,Y.Y.,
            Chu,Y.C., Wu,K.H., Wei,L.S., Wang,H.L. and Chiu,C.C.
  TITLE     TOMM40 Genetic Variants Cause Neuroinflammation in Alzheimer's
            Disease
  JOURNAL   Int J Mol Sci 24 (4), 4085 (2023)
   PUBMED   36835494
  REMARK    GeneRIF: TOMM40 Genetic Variants Cause Neuroinflammation in
            Alzheimer's Disease.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1768)
  AUTHORS   Zou,H., Luo,S., Liu,H., Lutz,M.W., Bennett,D.A., Plassman,B.L. and
            Welsh-Bohmer,K.A.
  TITLE     Genotypic Effects of the TOMM40'523 Variant and APOE on
            Longitudinal Cognitive Change over 4 Years: The TOMMORROW Study
  JOURNAL   J Prev Alzheimers Dis 10 (4), 886-894 (2023)
   PUBMED   37874111
  REMARK    GeneRIF: Genotypic Effects of the TOMM40'523 Variant and APOE on
            Longitudinal Cognitive Change over 4 Years: The TOMMORROW Study.
REFERENCE   5  (bases 1 to 1768)
  AUTHORS   Watts,A., Haneline,S., Welsh-Bohmer,K.A., Wu,J., Alexander,R.,
            Swerdlow,R.H., Burns,D.K. and Saunders,A.M.
  TITLE     TOMM40 '523 Genotype Distinguishes Patterns of Cognitive
            Improvement for Executive Function in APOEvarepsilon3 Homozygotes
  JOURNAL   J Alzheimers Dis 95 (4), 1697-1707 (2023)
   PUBMED   37718796
  REMARK    GeneRIF: TOMM40 '523 Genotype Distinguishes Patterns of Cognitive
            Improvement for Executive Function in APOEvarepsilon3 Homozygotes.
REFERENCE   6  (bases 1 to 1768)
  AUTHORS   Humphries,A.D., Streimann,I.C., Stojanovski,D., Johnston,A.J.,
            Yano,M., Hoogenraad,N.J. and Ryan,M.T.
  TITLE     Dissection of the mitochondrial import and assembly pathway for
            human Tom40
  JOURNAL   J Biol Chem 280 (12), 11535-11543 (2005)
   PUBMED   15644312
REFERENCE   7  (bases 1 to 1768)
  AUTHORS   Johnston,A.J., Hoogenraad,J., Dougan,D.A., Truscott,K.N., Yano,M.,
            Mori,M., Hoogenraad,N.J. and Ryan,M.T.
  TITLE     Insertion and assembly of human tom7 into the preprotein
            translocase complex of the outer mitochondrial membrane
  JOURNAL   J Biol Chem 277 (44), 42197-42204 (2002)
   PUBMED   12198123
REFERENCE   8  (bases 1 to 1768)
  AUTHORS   Das,B., Tao,S.Z., Mushnitsky,R. and Norin,A.J.
  TITLE     Genetic identity and differential expression of p38.5 (Haymaker) in
            human malignant and nonmalignant cells
  JOURNAL   Int J Cancer 94 (6), 800-806 (2001)
   PUBMED   11745481
REFERENCE   9  (bases 1 to 1768)
  AUTHORS   Suzuki,H., Okazawa,Y., Komiya,T., Saeki,K., Mekada,E., Kitada,S.,
            Ito,A. and Mihara,K.
  TITLE     Characterization of rat TOM40, a central component of the
            preprotein translocase of the mitochondrial outer membrane
  JOURNAL   J Biol Chem 275 (48), 37930-37936 (2000)
   PUBMED   10980201
REFERENCE   10 (bases 1 to 1768)
  AUTHORS   Freitas,E.M., Zhang,W.J., Lalonde,J.P., Tay,G.K., Gaudieri,S.,
            Ashworth,L.K., Van Bockxmeer,F.M. and Dawkins,R.L.
  TITLE     Sequencing of 42kb of the APO E-C2 gene cluster reveals a new gene:
            PEREC1
  JOURNAL   DNA Seq 9 (2), 89-100 (1998)
   PUBMED   10520737
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP265648.1, BC001779.1 and
            BC017224.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001128917.1.
            
            Summary: The protein encoded by this gene is localized in the outer
            membrane of the mitochondria. It is the channel-forming subunit of
            the translocase of the mitochondrial outer membrane (TOM) complex
            that is essential for import of protein precursors into
            mitochondria. Alternatively spliced transcript variants have been
            found for this gene. [provided by RefSeq, Aug 2015].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1-3 encode the same protein.
            
            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 :: BC017224.2, SRR1163658.312031.1
                                           [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                 :: ENST00000426677.7/
                                                  ENSP00000410339.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                BP265648.1         35-49
            16-1367             BC001779.1         1-1352
            1368-1768           BC017224.2         1305-1705
FEATURES             Location/Qualifiers
     source          1..1768
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..1768
                     /gene="TOMM40"
                     /gene_synonym="C19orf1; D19S1177E; PER-EC1; PEREC1; TOM40"
                     /note="translocase of outer mitochondrial membrane 40"
                     /db_xref="GeneID:10452"
                     /db_xref="HGNC:HGNC:18001"
                     /db_xref="MIM:608061"
     exon            1..436
                     /gene="TOMM40"
                     /gene_synonym="C19orf1; D19S1177E; PER-EC1; PEREC1; TOM40"
                     /inference="alignment:Splign:2.1.0"
     CDS             163..1248
                     /gene="TOMM40"
                     /gene_synonym="C19orf1; D19S1177E; PER-EC1; PEREC1; TOM40"
                     /note="mitochondrial outer membrane protein; p38.5;
                     protein Haymaker; translocase of outer mitochondrial
                     membrane 40 homolog; translocase of outer membrane 40 kDa
                     subunit homolog"
                     /codon_start=1
                     /product="mitochondrial import receptor subunit TOM40
                     homolog"
                     /protein_id="NP_001122389.1"
                     /db_xref="CCDS:CCDS12646.1"
                     /db_xref="GeneID:10452"
                     /db_xref="HGNC:HGNC:18001"
                     /db_xref="MIM:608061"
                     /translation="MGNVLAASSPPAGPPPPPAPALVGLPPPPPSPPGFTLPPLGGSL
                     GAGTSTSRSSERTPGAATASASGAAEDGACGCLPNPGTFEECHRKCKELFPIQMEGVK
                     LTVNKGLSNHFQVNHTVALSTIGESNYHFGVTYVGTKQLSPTEAFPVLVGDMDNSGSL
                     NAQVIHQLGPGLRSKMAIQTQQSKFVNWQVDGEYRGSDFTAAVTLGNPDVLVGSGILV
                     AHYLQSITPCLALGGELVYHRRPGEEGTVMSLAGKYTLNNWLATVTLGQAGMHATYYH
                     KASDQLQVGVEFEASTRMQDTSVSFGYQLDLPKANLLFKGSVDSNWIVGATLEKKLPP
                     LPLTLALGAFLNHRKNKFQCGFGLTIG"
     exon            437..504
                     /gene="TOMM40"
                     /gene_synonym="C19orf1; D19S1177E; PER-EC1; PEREC1; TOM40"
                     /inference="alignment:Splign:2.1.0"
     exon            505..597
                     /gene="TOMM40"
                     /gene_synonym="C19orf1; D19S1177E; PER-EC1; PEREC1; TOM40"
                     /inference="alignment:Splign:2.1.0"
     exon            598..699
                     /gene="TOMM40"
                     /gene_synonym="C19orf1; D19S1177E; PER-EC1; PEREC1; TOM40"
                     /inference="alignment:Splign:2.1.0"
     exon            700..805
                     /gene="TOMM40"
                     /gene_synonym="C19orf1; D19S1177E; PER-EC1; PEREC1; TOM40"
                     /inference="alignment:Splign:2.1.0"
     exon            806..928
                     /gene="TOMM40"
                     /gene_synonym="C19orf1; D19S1177E; PER-EC1; PEREC1; TOM40"
                     /inference="alignment:Splign:2.1.0"
     exon            929..1005
                     /gene="TOMM40"
                     /gene_synonym="C19orf1; D19S1177E; PER-EC1; PEREC1; TOM40"
                     /inference="alignment:Splign:2.1.0"
     exon            1006..1108
                     /gene="TOMM40"
                     /gene_synonym="C19orf1; D19S1177E; PER-EC1; PEREC1; TOM40"
                     /inference="alignment:Splign:2.1.0"
     exon            1109..1768
                     /gene="TOMM40"
                     /gene_synonym="C19orf1; D19S1177E; PER-EC1; PEREC1; TOM40"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1729..1734
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TOMM40"
                     /gene_synonym="C19orf1; D19S1177E; PER-EC1; PEREC1; TOM40"
                     /note="hexamer: AACAAA"
     regulatory      1746..1751
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TOMM40"
                     /gene_synonym="C19orf1; D19S1177E; PER-EC1; PEREC1; TOM40"
                     /note="hexamer: AATATA"
     polyA_site      1747
                     /gene="TOMM40"
                     /gene_synonym="C19orf1; D19S1177E; PER-EC1; PEREC1; TOM40"
                     /note="major polyA site"
     polyA_site      1768
                     /gene="TOMM40"
                     /gene_synonym="C19orf1; D19S1177E; PER-EC1; PEREC1; TOM40"
                     /note="major polyA site"
ORIGIN      
        1 cggttgcgcg tggcgcacgg ggtgggagcg gagcccaggc cgggagcagg cgccgccgcc
       61 agtgagaacc ggggccggag ccgggtgcgg atttgctggg gctgagtcgg gggcgcgcgg
      121 gccctgacct ctgccctctg acctctcccc tagcaggcga ccatggggaa cgtgttggct
      181 gccagctcgc cgcccgcagg gccgccaccg ccgcctgcgc cggccctcgt ggggctgccg
      241 ccacctccgc cctcgccgcc gggcttcacg ctgccgccgc tgggaggcag cctgggcgcc
      301 ggcaccagta cgagtcgaag ttcggaacgg acccccgggg ctgcaaccgc cagcgcctca
      361 ggggccgccg aggatggggc ctgcggctgc ctgcccaacc cgggcacatt cgaggagtgc
      421 caccggaagt gcaaggagct gtttcccatt cagatggagg gtgtcaagct cacagtcaac
      481 aaagggttga gtaaccattt tcaggtcaac cacacagtag ccctcagcac aatcggggag
      541 tccaactacc acttcggggt cacatatgtg gggacaaagc agctgagtcc cacagaggcg
      601 ttccctgtac tggtgggtga catggacaac agtggcagtc tcaacgctca ggtcattcac
      661 cagctgggcc ccggtctcag gtccaagatg gccatccaga cccagcagtc gaagtttgtg
      721 aactggcagg tggacgggga gtatcggggc tctgacttca cagcagccgt caccctgggg
      781 aacccagacg tcctcgtggg ttcaggaatc ctcgtagccc actacctcca gagcatcacg
      841 ccttgcctgg ccctgggtgg agagctggtc taccaccggc ggcctggaga ggagggcact
      901 gtcatgtctc tagctgggaa atacacattg aacaactggt tggcaacggt aacgttgggc
      961 caggcgggca tgcacgcaac atactaccac aaagccagtg accagctgca ggtgggtgtg
     1021 gagtttgagg ccagcacaag gatgcaggac accagcgtct ccttcgggta ccagctggac
     1081 ctgcccaagg ccaacctcct cttcaaaggc tctgtggata gcaactggat cgtgggtgcc
     1141 acgctggaga agaagctccc acccctgccc ctgacactgg cccttggggc cttcctgaat
     1201 caccgcaaga acaagtttca gtgtggcttt ggcctcacca tcggctgagc cctcctggcc
     1261 cccgccttcc acgcccttcc gattccacct ccacctccac ctccccctgc cacagagggg
     1321 agacctgagc ccccctccct tccctccccc cttgggggtc gggggggaca ttggaaagga
     1381 gggaccccgc caccccagca gctgaggagg ggattctgga actgaatggc gcttcgggat
     1441 tctgagtagc aggggcagca tgcccagtgg gcctggggtc ccgggaggga ttccggaatt
     1501 gaggggcacg caggattctg agcaccaggg gcagaggcgg ccagacaacc tcagggagga
     1561 gtgtcctggc gtccccatcc tccaaagggc ctgggcccgc cccgaggggg cagcgagagg
     1621 agcttcccca tccccggtca gtccaccctg ccccgtccac tttcccatct cctcggtata
     1681 aatcatgttt ataagttatg gaagaaccgg gacattttac agaaaaaaaa caaaaaacaa
     1741 caaaaaatat acgtgggaaa aaaaacga
//
