LOCUS       NM_013898               1243 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus translocase of inner mitochondrial membrane 8A1
            (Timm8a1), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_013898
VERSION     NM_013898.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1243)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 1243)
  AUTHORS   Song,P., Guan,Y., Chen,X., Wu,C., Qiao,A., Jiang,H., Li,Q.,
            Huang,Y., Huang,W., Xu,M., Niemtiah,O., Yuan,C., Li,W., Zhou,L.,
            Xiao,Z., Pan,S. and Hu,Y.
  TITLE     Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal
            mitochondrial structure in the brain, correlating with hearing and
            memory impairment
  JOURNAL   J Med Genet 58 (9), 619-627 (2021)
   PUBMED   32820032
  REMARK    GeneRIF: Frameshift mutation of Timm8a1 gene in mouse leads to an
            abnormal mitochondrial structure in the brain, correlating with
            hearing and memory impairment.
REFERENCE   3  (bases 1 to 1243)
  AUTHORS   Engl,G., Florian,S., Tranebjaerg,L. and Rapaport,D.
  TITLE     Alterations in expression levels of deafness dystonia protein 1
            affect mitochondrial morphology
  JOURNAL   Hum Mol Genet 21 (2), 287-299 (2012)
   PUBMED   21984432
REFERENCE   4  (bases 1 to 1243)
  AUTHORS   Lu,J., Qian,J., Izvolsky,K.I. and Cardoso,W.V.
  TITLE     Global analysis of genes differentially expressed in branching and
            non-branching regions of the mouse embryonic lung
  JOURNAL   Dev Biol 273 (2), 418-435 (2004)
   PUBMED   15328023
REFERENCE   5  (bases 1 to 1243)
  AUTHORS   Roesch,K., Hynds,P.J., Varga,R., Tranebjaerg,L. and Koehler,C.M.
  TITLE     The calcium-binding aspartate/glutamate carriers, citrin and
            aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex
  JOURNAL   Hum Mol Genet 13 (18), 2101-2111 (2004)
   PUBMED   15254020
REFERENCE   6  (bases 1 to 1243)
  AUTHORS   Roesch,K., Curran,S.P., Tranebjaerg,L. and Koehler,C.M.
  TITLE     Human deafness dystonia syndrome is caused by a defect in assembly
            of the DDP1/TIMM8a-TIMM13 complex
  JOURNAL   Hum Mol Genet 11 (5), 477-486 (2002)
   PUBMED   11875042
  REMARK    GeneRIF: Human deafness dystonia syndrome is caused by a defect in
            assembly of this protein complex. The defect is caused by a point
            mutation (a missense mutation).
REFERENCE   7  (bases 1 to 1243)
  AUTHORS   Nakane,T., Inada,Y., Ito,F., Itoh,N., Tazawa,S. and Chiba,S.
  TITLE     Cloning and expression of mouse deafness dystonia peptide 1 cDNA
  JOURNAL   Biochem Biophys Res Commun 273 (2), 759-764 (2000)
   PUBMED   10873677
REFERENCE   8  (bases 1 to 1243)
  AUTHORS   Bauer,M.F., Rothbauer,U., Muhlenbein,N., Smith,R.J., Gerbitz,K.,
            Neupert,W., Brunner,M. and Hofmann,S.
  TITLE     The mitochondrial TIM22 preprotein translocase is highly conserved
            throughout the eukaryotic kingdom
  JOURNAL   FEBS Lett 464 (1-2), 41-47 (1999)
   PUBMED   10611480
REFERENCE   9  (bases 1 to 1243)
  AUTHORS   Jin,H., Kendall,E., Freeman,T.C., Roberts,R.G. and Vetrie,D.L.
  TITLE     The human family of Deafness/Dystonia peptide (DDP) related
            mitochondrial import proteins
  JOURNAL   Genomics 61 (3), 259-267 (1999)
   PUBMED   10552927
REFERENCE   10 (bases 1 to 1243)
  AUTHORS   Oeltjen,J.C., Malley,T.M., Muzny,D.M., Miller,W., Gibbs,R.A. and
            Belmont,J.W.
  TITLE     Large-scale comparative sequence analysis of the human and murine
            Bruton's tyrosine kinase loci reveals conserved regulatory domains
  JOURNAL   Genome Res 7 (4), 315-329 (1997)
   PUBMED   9110171
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY093108.1 and BC094631.1.
            
            On Aug 27, 2015 this sequence version replaced NM_013898.2.
            
            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 :: BC094631.1, AK090079.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-41                BY093108.1         2-42
            42-1243             BC094631.1         10-1211
FEATURES             Location/Qualifiers
     source          1..1243
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 56.18 cM"
     gene            1..1243
                     /gene="Timm8a1"
                     /gene_synonym="Ddp1; DXHXS1274E; Fci-12; Tim8a; Timm8a"
                     /note="translocase of inner mitochondrial membrane 8A1"
                     /db_xref="GeneID:30058"
                     /db_xref="MGI:MGI:1353433"
     exon            1..214
                     /gene="Timm8a1"
                     /gene_synonym="Ddp1; DXHXS1274E; Fci-12; Tim8a; Timm8a"
                     /inference="alignment:Splign:2.1.0"
     CDS             83..376
                     /gene="Timm8a1"
                     /gene_synonym="Ddp1; DXHXS1274E; Fci-12; Tim8a; Timm8a"
                     /note="deafness dystonia protein 1 homolog; translocase of
                     inner mitochondrial membrane 8 homolog a; translocase of
                     inner mitochondrial membrane 8 homolog a1"
                     /codon_start=1
                     /product="mitochondrial import inner membrane translocase
                     subunit Tim8 A"
                     /protein_id="NP_038926.1"
                     /db_xref="CCDS:CCDS41122.1"
                     /db_xref="GeneID:30058"
                     /db_xref="MGI:MGI:1353433"
                     /translation="MESSTSSSGSALGAVDPQLQHFIEVETQKQRFQQLVHQMTELCW
                     EKCMDKPGPKLDSRAEACFVNCVERFIDTSQFILNRLEQTQKSKPVFSESLSD"
     exon            215..1226
                     /gene="Timm8a1"
                     /gene_synonym="Ddp1; DXHXS1274E; Fci-12; Tim8a; Timm8a"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1206..1211
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Timm8a1"
                     /gene_synonym="Ddp1; DXHXS1274E; Fci-12; Tim8a; Timm8a"
                     /note="hexamer: AATAAA"
     polyA_site      1226
                     /gene="Timm8a1"
                     /gene_synonym="Ddp1; DXHXS1274E; Fci-12; Tim8a; Timm8a"
                     /note="major polyA site"
ORIGIN      
        1 gtagttccgg ttccgtcacc cagacacgtg aaggtcggca agtcgcttca gtgctcgcct
       61 cggcccgcgt ggtcgtgccg ggatggagtc ctccacgtcc tcttcgggct cggctctggg
      121 cgccgtggac cctcagttgc agcatttcat cgaggtggag acgcagaagc agcgcttcca
      181 gcagctggtg caccagatga cggaactttg ctgggagaag tgcatggata agcctgggcc
      241 taagttggac agtcgggctg aggcctgttt tgtgaactgc gttgaacgct tcattgatac
      301 aagccagttc atcttaaatc gactggaaca gacccagaag tccaaacccg tcttctcaga
      361 aagcctttct gactgatctc agcattacct ctttggaaaa gtagttcaag aattgaagag
      421 ctgctgatga ggtggttgaa gaaatggcta tgggggggat taaactccca attttcttta
      481 tcgtcttggg acatcttgtc acctgagaat gaacaaagac caatttttat gtatgggagt
      541 tgagagtcat gtgtatttgg ttgtgttttt aaagctaacc atgtgacaat aattgacaga
      601 taaatgaaag tgtgagatgc atataactgt atatgggact gctttctcaa ggtcccttta
      661 ctgctttata aaataatttt gataggtgga ctgctttcta gaatttgata gtgggaccac
      721 atagggtaaa tcttgatttg tatgggttca tttctgattt ttttagggag atctttgtgt
      781 cagtcaaatt ggcagtgggg aaagatcctg gcactgttta actgtgagct ttctttcatg
      841 tctgacctgg agctgaaaaa aagtcctatg gagtgttcct gcaatccaac ttcttaggtt
      901 gtctctcccc tatactgtga cttacttaac tcgcaaattg aaaatatggt ctcaaggtag
      961 aagaggaagc ctgagaatcc aaagggcttt agtcataaaa gaatctagct catgagtact
     1021 attcttatta ccagacagcc acgagaagaa gttaacttac tatgtatatc cagatgcaaa
     1081 acattcacag atgtgcctaa agaaaccgcg acttaggcca gttcagaact aacaactgtt
     1141 tcaggtagag gtgcatgcct gatggtagac atcgattcca ttaactgcat tcttttggtc
     1201 actgaaataa aagctcgcaa gatcaaaaaa aaaaaaaaaa aaa
//
