LOCUS       NM_001001563            5037 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens translocase of inner mitochondrial membrane 50
            (TIMM50), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_001001563 XM_053074
VERSION     NM_001001563.5
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 5037)
  AUTHORS   Crameri,J.J., Palmer,C.S., Stait,T., Jackson,T.D., Lynch,M.,
            Sinclair,A., Frajman,L.E., Compton,A.G., Coman,D., Thorburn,D.R.,
            Frazier,A.E. and Stojanovski,D.
  TITLE     Reduced Protein Import via TIM23 SORT Drives Disease Pathology in
            TIMM50-Associated Mitochondrial Disease
  JOURNAL   Mol Cell Biol 44 (6), 226-244 (2024)
   PUBMED   38828998
REFERENCE   2  (bases 1 to 5037)
  AUTHORS   Iglesias-Martinez,L.F., Rauch,N., Wynne,K., McCann,B., Kolch,W. and
            Rauch,J.
  TITLE     Interactome dynamics of RAF1-BRAF kinase monomers and dimers
  JOURNAL   Sci Data 10 (1), 203 (2023)
   PUBMED   37045861
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5037)
  AUTHORS   Moudi,M., Vahidi Mehrjardi,M.Y., Hozhabri,H., Metanat,Z.,
            Kalantar,S.M., Taheri,M., Ghasemi,N. and Dehghani,M.
  TITLE     Novel variants underlying autosomal recessive neurodevelopmental
            disorders with intellectual disability in Iranian consanguineous
            families
  JOURNAL   J Clin Lab Anal 36 (2), e24241 (2022)
   PUBMED   35019165
  REMARK    GeneRIF: Novel variants underlying autosomal recessive
            neurodevelopmental disorders with intellectual disability in
            Iranian consanguineous families.
REFERENCE   4  (bases 1 to 5037)
  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   5  (bases 1 to 5037)
  AUTHORS   Metwally,E., Zhao,G., Wang,Q. and Zhang,Y.Q.
  TITLE     Ttm50 facilitates calpain activation by anchoring it to calcium
            stores and increasing its sensitivity to calcium
  JOURNAL   Cell Res 31 (4), 433-449 (2021)
   PUBMED   32848200
REFERENCE   6  (bases 1 to 5037)
  AUTHORS   Xu,H., Somers,Z.B., Robinson,M.L. 2nd and Hebert,M.D.
  TITLE     Tim50a, a nuclear isoform of the mitochondrial Tim50, interacts
            with proteins involved in snRNP biogenesis
  JOURNAL   BMC Cell Biol 6 (1), 29 (2005)
   PUBMED   16008839
  REMARK    GeneRIF: Tim50a, a nuclear isoform of the mitochondrial Tim50,
            interacts with coilin, snRNPs, and SMN
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 5037)
  AUTHORS   Guo,Y., Cheong,N., Zhang,Z., De Rose,R., Deng,Y., Farber,S.A.,
            Fernandes-Alnemri,T. and Alnemri,E.S.
  TITLE     Tim50, a component of the mitochondrial translocator, regulates
            mitochondrial integrity and cell death
  JOURNAL   J Biol Chem 279 (23), 24813-24825 (2004)
   PUBMED   15044455
  REMARK    GeneRIF: Tim50 is important for both mitochondrial function and
            early neuronal development
REFERENCE   8  (bases 1 to 5037)
  AUTHORS   Yuryev,A. and Wennogle,L.P.
  TITLE     Novel raf kinase protein-protein interactions found by an
            exhaustive yeast two-hybrid analysis
  JOURNAL   Genomics 81 (2), 112-125 (2003)
   PUBMED   12620389
REFERENCE   9  (bases 1 to 5037)
  AUTHORS   Yamamoto,H., Esaki,M., Kanamori,T., Tamura,Y., Nishikawa,Si. and
            Endo,T.
  TITLE     Tim50 is a subunit of the TIM23 complex that links protein
            translocation across the outer and inner mitochondrial membranes
  JOURNAL   Cell 111 (4), 519-528 (2002)
   PUBMED   12437925
REFERENCE   10 (bases 1 to 5037)
  AUTHORS   Bauer,M.F., Gempel,K., Reichert,A.S., Rappold,G.A., Lichtner,P.,
            Gerbitz,K.D., Neupert,W., Brunner,M. and Hofmann,S.
  TITLE     Genetic and structural characterization of the human mitochondrial
            inner membrane translocase
  JOURNAL   J Mol Biol 289 (1), 69-82 (1999)
   PUBMED   10339406
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI856163.1, BC050082.1,
            BM463473.1, BU540967.1, AK098197.1, AC011500.7 and BC014674.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001001563.4.
            
            Summary: This gene encodes a subunit of the TIM23 inner
            mitochondrial membrane translocase complex. The encoded protein
            functions as the receptor subunit that recognizes the mitochondrial
            targeting signal, or presequence, on protein cargo that is destined
            for the mitochondrial inner membrane and matrix. This protein may
            also play a role in maintaining the membrane permeability barrier,
            and knockdown of this gene in human cells results in the release of
            cytochrome c and apoptosis. [provided by RefSeq, Jul 2016].
            
            Transcript Variant: This variant (1) 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.
            
            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 :: SRR1163655.264753.1,
                                           SRR1163658.101377.1 [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                 :: ENST00000607714.6/
                                                  ENSP00000475531.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                BI856163.1         556-576
            22-1180             BC050082.1         24-1182
            1181-1512           BM463473.1         473-804
            1513-1660           BU540967.1         74-221
            1661-1908           AK098197.1         1748-1995
            1909-4851           AC011500.7         95475-98417
            4852-5037           BC014674.1         1955-2140
FEATURES             Location/Qualifiers
     source          1..5037
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..5037
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /note="translocase of inner mitochondrial membrane 50"
                     /db_xref="GeneID:92609"
                     /db_xref="HGNC:HGNC:23656"
                     /db_xref="MIM:607381"
     exon            1..124
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /inference="alignment:Splign:2.1.0"
     CDS             17..1078
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /note="isoform 1 is encoded by transcript variant 1;
                     homolog of yeast Tim50; Tim50-like protein; mitochondrial
                     import inner membrane translocase subunit TIM50"
                     /codon_start=1
                     /product="mitochondrial import inner membrane translocase
                     subunit TIM50 isoform 1"
                     /protein_id="NP_001001563.2"
                     /db_xref="CCDS:CCDS33023.2"
                     /db_xref="GeneID:92609"
                     /db_xref="HGNC:HGNC:23656"
                     /db_xref="MIM:607381"
                     /translation="MAASAAVFSRLRSGLRLGSRGLCTRLATPPRRAPDQAAEIGSRG
                     STKAQGPQQQPGSEGPSYAKKVALWLAGLLGAGGTVSVVYIFGNNPVDENGAKIPDEF
                     DNDPILVQQLRRTYKYFKDYRQMIIEPTSPCLLPDPLQEPYYQPPYTLVLELTGVLLH
                     PEWSLATGWRFKKRPGIETLFQQLAPLYEIVIFTSETGMTAFPLIDSVDPHGFISYRL
                     FRDATRYMDGHHVKDISCLNRDPARVVVVDCKKEAFRLQPYNGVALRPWDGNSDDRVL
                     LDLSAFLKTIALNGVEDVRTVLEHYALEDDPLAAFKQRQSRLEQEEQQRLAELSKSNK
                     QNLFLGSLTSRLWPRSKQP"
     exon            125..275
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /inference="alignment:Splign:2.1.0"
     exon            276..307
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /inference="alignment:Splign:2.1.0"
     exon            308..329
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /inference="alignment:Splign:2.1.0"
     exon            330..388
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /inference="alignment:Splign:2.1.0"
     exon            389..508
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /inference="alignment:Splign:2.1.0"
     exon            509..613
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /inference="alignment:Splign:2.1.0"
     exon            614..712
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /inference="alignment:Splign:2.1.0"
     exon            713..869
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /inference="alignment:Splign:2.1.0"
     exon            870..976
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /inference="alignment:Splign:2.1.0"
     exon            977..5037
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1158..1163
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /note="hexamer: AATAAA"
     polyA_site      1180
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /note="major polyA site"
     polyA_site      1350
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
     regulatory      2297..2302
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /note="hexamer: AATAAA"
     polyA_site      2322
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
     regulatory      4258..4263
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /note="hexamer: ATTAAA"
     polyA_site      4276
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
     regulatory      4301..4306
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /note="hexamer: ATTAAA"
     polyA_site      4337
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
     regulatory      4385..4390
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /note="hexamer: ATTAAA"
     polyA_site      4403
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
     polyA_site      4943
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
     regulatory      5017..5022
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /note="hexamer: AATAAA"
     polyA_site      5037
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
ORIGIN      
        1 gtggcgtcag cgcaagatgg cggcctcggc agcggtgttc tcgcgcttgc gaagcgggct
       61 ccggctcggc tcgcggggac tgtgcacgag gttggcgacg ccgccccgcc gggccccaga
      121 tcaggccgca gagatcggga gccgcgggag cactaaggcg caagggccac agcagcagcc
      181 gggctcagag ggtcccagct atgccaaaaa agttgcgctc tggcttgctg ggctgcttgg
      241 agctggtggg actgtgagcg tcgtctatat ctttggaaac aacccggtgg acgaaaatgg
      301 tgccaagatt cctgatgagt tcgacaatga tccaattctg gtacagcagt tgcgccggac
      361 atacaaatat ttcaaagatt atagacagat gatcatcgag cccaccagcc cttgccttct
      421 cccagaccct ctgcaggaac cgtactacca gccaccctac acgctcgttt tggagctcac
      481 cggcgtcctc ttgcatcctg agtggtcgct ggccactggc tggaggttta agaagcgccc
      541 aggcatcgag accttgttcc agcagcttgc ccctttatat gaaattgtca tctttacgtc
      601 agagactggc atgactgcgt ttccactcat tgatagtgtg gacccccatg gcttcatctc
      661 ctaccgccta ttccgggacg ccacaagata catggatgga caccatgtaa aggatatttc
      721 atgtctgaat cgggacccag ctcgagtagt agttgtggac tgcaagaagg aagccttccg
      781 cctgcagccc tataacggcg ttgccctgcg gccctgggac ggcaactctg atgaccgggt
      841 cttgttggat ctgtctgcct tcctcaagac cattgcactg aatggtgtgg aggacgtgcg
      901 aaccgtgctg gagcactatg ccctggagga tgacccgctg gcggctttca aacagcggca
      961 aagccggcta gagcaggagg agcagcagcg cctggccgag ctctccaagt ccaacaagca
     1021 gaacctcttc cttggctccc tcaccagccg cttgtggcct cgctccaaac agccctgaac
     1081 tctgggcctc ctcaaactca gtgcctgggt ccagggcccc agtgcttcca gaccaagact
     1141 tgggccacca cttgtccaat aaagtacatc ccagacgcca cacctgctgt gtcccgagag
     1201 tctccagatg ggggcatcag ggtgaggtcc gggactcttg ggtcatcgtc ccacagtggc
     1261 tgatcggctg ccaagcacag tgggggtgct ttgttggatc agagcagatt tttcaccctg
     1321 gtctcggaat ctaaaaaccc tcgctgtgtc ttcctgtgtg ttgcgtgatc tgtgaaaaat
     1381 acatctccct ctgaccacag actcctcatc tgtggagaag ggaagagagg atggcacttg
     1441 gctttaaaga caggtagctg ccaggctact gtggagagaa tgtgttatgg gcctagtggg
     1501 cctctggtgg accagagatt acccctctca acaggccagc tgctggttgg ctccagccag
     1561 tgtggccctg gggtaaaggg ggcctggagt tgcttgacac gccagttgtt caaaagaagc
     1621 aagaacttgg gaatattttt tttttttttt tgagacaggg tctcactgtt gcccaggctg
     1681 gagtgcattg atgtgatctt agcttacaac agccttgacc tcccggctca agtgatctcc
     1741 aagtgaccct cctgcctcag cctcctgagt accctcctgg ggactacagg tgcgtgctac
     1801 catacccagc taatttaaac aaattttttt tttgtagaga tggggtcttg gtgcccaagc
     1861 tggtctcaaa ctcctagtct taagcaatct tcctgctttg gcctcccaaa gcgctaggat
     1921 tccaggtgtg agctactgtg cccagctaaa atagggattt ttatattaaa tctccctatt
     1981 ttaaaatgtt ggctcctagc ggggcgcagt ggctcacgcc tgtaatccca gcactttggg
     2041 aggctgaggt gggtggatca cctgaggtca ggagttcaag accagcctca acatggagaa
     2101 accccatctc tactaaaaat acaaaattag ctgggcgtgg tggagcatgc ctgtgatccc
     2161 agctactcag gaggctgagg caggagaatt gcttgaacct gggaggcgga ggttgtggtg
     2221 agccgagatc gcaccattgc actccagcct gggcaacagc agcgaaactc catctcaaaa
     2281 aataaaataa aataaaaata aaatgttggc ttctaactaa aacaggcaga tatgtagcag
     2341 tgttctccac tggaactttc tgtgatgttt ggttcatgtt ctaggtctgt actgtccagt
     2401 acagtagcca gtggccacat aaacctttgt tttttttttt tgagacggag tttcgctctt
     2461 attgcccagg ctggagtgca atggcacgac gtcggctcac cacatcctcc gcctcccggg
     2521 ttcaagcaat gctcccgcct caacctccca agtagctgag attacaggcg cacaccacca
     2581 cgcccggcta atttttgtat ttttttagta gagacagggt ttcaccatgt tggttaggct
     2641 ggtctcgaac tcctgacctc gtgatccgcc cgcctcggcc tcccaaagtg ctgggattgc
     2701 aggcatgagc caccatgcct ggccccacat aaagtttctg agcacttgaa atgtggctag
     2761 tgtgactgag aaactgaatt tttaattttg tttgagactg ggcacagtgg ctcacgcctg
     2821 taatcctgac actttgggag gccgaagcag gaggattgct tgaatccagg agtacgagac
     2881 caccctgggc aacatggtga aatcctgcct ctaaaaaaaa aacaaagtaa cgagcccagc
     2941 gaggttatgc atacctgtag tcccagctac gtgagaggct gaggtgggag gaatcccttg
     3001 agccaaggag gtcgtgcgtg gctgtgatga tctgtgatcg tgccgctaaa ttctagcctg
     3061 ggcaacagag cgagaccctg tctcaaaaaa aaaaaaaaaa aaaaaaaaac cttaagattt
     3121 ttttttggag tcagggtctc gctgtgtcgc ccaggctgga gcacagtggt gtaactatag
     3181 ctcactgcag tgttgaactt ctgggctcaa acaatcttcc tgccttggcc tccccaaatg
     3241 ctgagattat aggagtgagc cactctgccc aactactttt aattaaatag ccacatgtgt
     3301 ctcctgtatt gacagtacca ctgtgtatta agagtatgag tcccagattg tgtaagttca
     3361 aatccaagct ctaccacttc tcggctggct tgtgatcctg tgcaagttac tttacctctc
     3421 agtgcctcgg tttctacatt tataaaataa taactgggca ggcacagtgg ctcatggctg
     3481 tcatcccaac acttcaggag gccgaggtgg gaggatcgcc tgaggccagg agttggagag
     3541 cagcctgggc aacatgggaa gagcctgtct cttgcggggg ggggagaaga aagttcttgt
     3601 ctcaggctag ctttggggac caaatgaagc actcccatgt aggcactcaa atggaactat
     3661 gtaaacctta ggcaaggcac ctctgcctca gtttcctcat ctctaaaatg gggtgatggt
     3721 agtatgttag cagagtggtt gtgaggagtg aacgggacag tccgtatgtg ggttatatgt
     3781 atatattccc aggtgcttgc tgttaccagg ccatatgggt tattcacaga ttgaaatatc
     3841 ttagctgggc acggtggctc acccctataa tcccagcact ttgggagacc gaggcgggtg
     3901 gatcacctga ggtcaggagt tcgagaccag cctggccaac atggtgaaac cctgtctcta
     3961 ctaaaaaaat acaaataaat tagctgggca tggtggtggg tgcctgtaat cccagctact
     4021 tgggaggctg aggcaggaga atcgattaaa cccaggaggc agaggttgca gtgagctgag
     4081 atcacaccat tgcactccag cctgggcgac agagtaaggc tctgtctcca aaaaaaaaaa
     4141 aaaaaaaaaa caaaaaaaaa accagtttga ctttatctcc ctcgccctgc ctccatcccc
     4201 acattgcccc ccactatccc agtctctcct actccagcct tcatctagtg ctaactgatt
     4261 aaatattcta agatgacctt ctctggtgtg tgtgatgata attaaaaggc attcagaact
     4321 gtgtggacca gactgaacct ctgcactcta gatttttttt tttttgaagc ctctacaaag
     4381 gataattaaa atttacacca tgactctttg tcctggggtg cactgtctgt aagccggtgg
     4441 agttatttcc caaaatcctt ggtccttccc agcttgagga agtctgcagg actgagggag
     4501 gggacctgtg cttttttttt tgtttttttg agatggagtc tctgttgccc aggctggagt
     4561 gcagtggggc gatctcggct cactgcaccc tgcacctcct gggttcaagt gattctcctg
     4621 cctcaggctc ccaagtagct gggattacag gcgtgtgcca ctgtcaggcc tctgagccca
     4681 agccaagcca tcgcatcccc tgtgccttgc acatatacac ccagatggcc tgaagtaact
     4741 gaagaatcac aaaagaagtg aaaaggccct gccccgcctt aactgatgac attccaccat
     4801 tgtgatttgt tcctgcccca ccttaactga gtgattaacc ctgcaaattt ccttctcctg
     4861 gctcagaagc acccccactg agcaccttgc gaccccccac tcctgcccgc cctttgactg
     4921 taattttcca ttaccttccc aaatactata aaacagcccc acccctatct cccttcgctg
     4981 actcttttcg gactcagccc acctgcaccc aggtgaaata aacagcttta ttgctca
//
