LOCUS       NM_004085               1210 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens translocase of inner mitochondrial membrane 8A
            (TIMM8A), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_004085
VERSION     NM_004085.4
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 1210)
  AUTHORS   Chi,Y., Hirachan,S., Zhou,Y. and Bhandari,A.
  TITLE     Exploring the Oncogenic Potential of TIMM8A: A Crucial Factor in
            Breast Cancer Tumorigenesis
  JOURNAL   Clin Breast Cancer 24 (5), e333-e349.e1 (2024)
   PUBMED   38548519
  REMARK    GeneRIF: Exploring the Oncogenic Potential of TIMM8A: A Crucial
            Factor in Breast Cancer Tumorigenesis.
REFERENCE   2  (bases 1 to 1210)
  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   3  (bases 1 to 1210)
  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   4  (bases 1 to 1210)
  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   5  (bases 1 to 1210)
  AUTHORS   Wallace,D.C. and Murdock,D.G.
  TITLE     Mitochondria and dystonia: the movement disorder connection?
  JOURNAL   Proc Natl Acad Sci U S A 96 (5), 1817-1819 (1999)
   PUBMED   10051550
REFERENCE   6  (bases 1 to 1210)
  AUTHORS   Jin,H., May,M., Tranebjaerg,L., Kendall,E., Fontan,G., Jackson,J.,
            Subramony,S.H., Arena,F., Lubs,H., Smith,S., Stevenson,R.,
            Schwartz,C. and Vetrie,D.
  TITLE     A novel X-linked gene, DDP, shows mutations in families with
            deafness (DFN-1), dystonia, mental deficiency and blindness
  JOURNAL   Nat Genet 14 (2), 177-180 (1996)
   PUBMED   8841189
REFERENCE   7  (bases 1 to 1210)
  AUTHORS   Tranebjaerg,L., Schwartz,C., Eriksen,H., Andreasson,S.,
            Ponjavic,V., Dahl,A., Stevenson,R.E., May,M., Arena,F., Barker,D.
            et al.
  TITLE     A new X linked recessive deafness syndrome with blindness,
            dystonia, fractures, and mental deficiency is linked to Xq22
  JOURNAL   J Med Genet 32 (4), 257-263 (1995)
   PUBMED   7643352
REFERENCE   8  (bases 1 to 1210)
  AUTHORS   Vorechovsky,I., Vetrie,D., Holland,J., Bentley,D.R., Thomas,K.,
            Zhou,J.N., Notarangelo,L.D., Plebani,A., Fontan,G., Ochs,H.D. et
            al.
  TITLE     Isolation of cosmid and cDNA clones in the region surrounding the
            BTK gene at Xq21.3-q22
  JOURNAL   Genomics 21 (3), 517-524 (1994)
   PUBMED   7959728
REFERENCE   9  (bases 1 to 1210)
  AUTHORS   Tranebjaerg,L.
  TITLE     Deafness-Dystonia-Optic Neuronopathy Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301395
REFERENCE   10 (bases 1 to 1210)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN410182.1, BC006994.1 and
            AW204693.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004085.3.
            
            Summary: This translocase is involved in the import and insertion
            of hydrophobic membrane proteins from the cytoplasm into the
            mitochondrial inner membrane. The gene is mutated in
            Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and
            it is postulated that MTS/DDS is a mitochondrial disease caused by
            a defective mitochondrial protein import system. Defects in this
            gene also cause Jensen syndrome; an X-linked disease with
            opticoacoustic nerve atrophy and muscle weakness. This protein,
            along with TIMM13, forms a 70 kDa heterohexamer. Alternative
            splicing results in multiple transcript variants encoding distinct
            isoforms.[provided by RefSeq, Mar 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: SRR1163657.114906.1,
                                           SRR1803613.248108.1 [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                 :: ENST00000372902.4/
                                                  ENSP00000361993.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                CN410182.1         228-251
            25-1206             BC006994.1         2-1183
            1207-1210           AW204693.1         23-26               c
FEATURES             Location/Qualifiers
     source          1..1210
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.1"
     gene            1..1210
                     /gene="TIMM8A"
                     /gene_synonym="DDP; DDP1; DFN1; MTS; TIM8"
                     /note="translocase of inner mitochondrial membrane 8A"
                     /db_xref="GeneID:1678"
                     /db_xref="HGNC:HGNC:11817"
                     /db_xref="MIM:300356"
     exon            1..210
                     /gene="TIMM8A"
                     /gene_synonym="DDP; DDP1; DFN1; MTS; TIM8"
                     /inference="alignment:Splign:2.1.0"
     CDS             79..372
                     /gene="TIMM8A"
                     /gene_synonym="DDP; DDP1; DFN1; MTS; TIM8"
                     /note="isoform 1 is encoded by transcript variant 1;
                     deafness/dystonia peptide; mitochondrial import inner
                     membrane translocase subunit Tim8 A; deafness dystonia
                     protein 1; translocase of inner mitochondrial membrane 8
                     homolog A; X-linked deafness dystonia protein"
                     /codon_start=1
                     /product="mitochondrial import inner membrane translocase
                     subunit Tim8 A isoform 1"
                     /protein_id="NP_004076.1"
                     /db_xref="CCDS:CCDS14481.1"
                     /db_xref="GeneID:1678"
                     /db_xref="HGNC:HGNC:11817"
                     /db_xref="MIM:300356"
                     /translation="MDSSSSSSAAGLGAVDPQLQHFIEVETQKQRFQQLVHQMTELCW
                     EKCMDKPGPKLDSRAEACFVNCVERFIDTSQFILNRLEQTQKSKPVFSESLSD"
     exon            211..1210
                     /gene="TIMM8A"
                     /gene_synonym="DDP; DDP1; DFN1; MTS; TIM8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      509..514
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TIMM8A"
                     /gene_synonym="DDP; DDP1; DFN1; MTS; TIM8"
                     /note="hexamer: AACAAA"
     polyA_site      535
                     /gene="TIMM8A"
                     /gene_synonym="DDP; DDP1; DFN1; MTS; TIM8"
                     /note="major polyA site"
     regulatory      601..606
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TIMM8A"
                     /gene_synonym="DDP; DDP1; DFN1; MTS; TIM8"
                     /note="hexamer: AAGAAA"
     polyA_site      622
                     /gene="TIMM8A"
                     /gene_synonym="DDP; DDP1; DFN1; MTS; TIM8"
                     /note="major polyA site"
     polyA_site      707
                     /gene="TIMM8A"
                     /gene_synonym="DDP; DDP1; DFN1; MTS; TIM8"
                     /note="major polyA site"
     polyA_site      876
                     /gene="TIMM8A"
                     /gene_synonym="DDP; DDP1; DFN1; MTS; TIM8"
     regulatory      1188..1193
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TIMM8A"
                     /gene_synonym="DDP; DDP1; DFN1; MTS; TIM8"
                     /note="hexamer: AATAAA"
     polyA_site      1210
                     /gene="TIMM8A"
                     /gene_synonym="DDP; DDP1; DFN1; MTS; TIM8"
ORIGIN      
        1 agctgtggtt ccggttccgt cgcggagaca cgtgaaggtc ggtgcggagt tcgtctctgc
       61 aagcttggtc gccctgggat ggattcctcc tcctcttcct ccgcggcggg tttgggtgca
      121 gtggacccgc agttgcagca tttcatcgag gtagagactc aaaagcagcg cttccagcag
      181 ctggtgcacc agatgactga actttgttgg gagaagtgca tggacaagcc tgggccaaag
      241 ttggacagtc gggctgaggc ctgttttgtg aactgcgttg agcgcttcat tgatacaagc
      301 cagttcatct tgaatcgact ggaacagacc cagaaatcca agccagtttt ctcagaaagc
      361 ctttctgact gatctcagca ttacctcttt ggaaaaggaa ggtagttcaa gaaatgaaga
      421 gctgttgatg ggatgattga agaaacagct atgagaggat tggctcccat cttttgttac
      481 tcttgggaca tcctgtcatc tgagaatgaa caaagaccaa ttttttgtgt gtgaagctta
      541 agggtcatat gtttgcttgt attttttaat gctaatcttg tgaaaataat tgacaggcga
      601 aagaaaactc tatttagatg catattactg tacatgggac tatgcttttc tcaaagcccc
      661 attaactgct tcctataatt ttgatagtgg gaccacatac gtaaaaatct ctcatttgtg
      721 tggagtcatt tctgatttca ggggagatcc ttgtgtttat cagaaagggc agaagtaggg
      781 gaagaataat ttggtatcct tatctagtgt ttgattgtca atgctggaga aaaatatctg
      841 taagagtgtt tatacagtac acttcagtta tcttgatctc cctttcctat atgatgattt
      901 gcttaaatat ccatattaag taagtctcaa ggtagggtag gcagcctgag agtctagagg
      961 cctttagtta taaaggaatc tagccagtga acataattct tattactaga ctgccacaag
     1021 gaagaaatta acttaccctg tatatcaggg tacaaaaaat tcagtgatgt gcctaaataa
     1081 gttataaaga tttaggccaa tcagaagcta acagcagttt caggtagagg tgcatgccta
     1141 atgttagtta gtgtagattc catttactgc attcttctga tcactgaaat aaaagctata
     1201 taagattcaa
//
