LOCUS       NM_012459                780 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens translocase of inner mitochondrial membrane 8 homolog
            B (TIMM8B), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_012459
VERSION     NM_012459.4
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 780)
  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 780)
  AUTHORS   Pieragostino,D., Agnifili,L., Fasanella,V., D'Aguanno,S.,
            Mastropasqua,R., Di Ilio,C., Sacchetta,P., Urbani,A. and Del
            Boccio,P.
  TITLE     Shotgun proteomics reveals specific modulated protein patterns in
            tears of patients with primary open angle glaucoma naive to therapy
  JOURNAL   Mol Biosyst 9 (6), 1108-1116 (2013)
   PUBMED   23580065
REFERENCE   3  (bases 1 to 780)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   4  (bases 1 to 780)
  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 780)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 780)
  AUTHORS   Webb,C.T., Gorman,M.A., Lazarou,M., Ryan,M.T. and Gulbis,J.M.
  TITLE     Crystal structure of the mitochondrial chaperone TIM9.10 reveals a
            six-bladed alpha-propeller
  JOURNAL   Mol Cell 21 (1), 123-133 (2006)
   PUBMED   16387659
REFERENCE   7  (bases 1 to 780)
  AUTHORS   Hofmann,S., Rothbauer,U., Muhlenbein,N., Neupert,W., Gerbitz,K.D.,
            Brunner,M. and Bauer,M.F.
  TITLE     The C66W mutation in the deafness dystonia peptide 1 (DDP1) affects
            the formation of functional DDP1.TIM13 complexes in the
            mitochondrial intermembrane space
  JOURNAL   J Biol Chem 277 (26), 23287-23293 (2002)
   PUBMED   11956200
REFERENCE   8  (bases 1 to 780)
  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 780)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP002007.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_012459.3.
            
            Summary: This gene encodes a member of a well-conserved family of
            proteins with similarity to yeast Tim mitochondrial import
            proteins. This gene is encoded by a nuclear gene and is transported
            into the intermembrane space of the mitochondrion. When formed into
            complexes, these proteins guide membrane-spanning proteins across
            the mitochondrial intermembrane space before they are added into
            the mitochondrial inner membrane. This gene is adjacent to
            succinate dehydrogenase, subunit D (SDHD), in which mutations have
            been found in affected members of families with hereditary
            paraganglioma.[provided by RefSeq, Aug 2009].
            
            Transcript Variant: This variant (1) encodes the functional
            protein.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.806844.1,
                                           SRR1803613.60468.1 [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                 :: ENST00000504148.3/
                                                  ENSP00000422122.2
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-117               AP002007.4         103733-103849       c
            118-780             AP002007.4         101893-102555       c
FEATURES             Location/Qualifiers
     source          1..780
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.1"
     gene            1..780
                     /gene="TIMM8B"
                     /gene_synonym="DDP2; TIM8B"
                     /note="translocase of inner mitochondrial membrane 8
                     homolog B"
                     /db_xref="GeneID:26521"
                     /db_xref="HGNC:HGNC:11818"
                     /db_xref="MIM:606659"
     exon            1..117
                     /gene="TIMM8B"
                     /gene_synonym="DDP2; TIM8B"
                     /inference="alignment:Splign:2.1.0"
     CDS             34..285
                     /gene="TIMM8B"
                     /gene_synonym="DDP2; TIM8B"
                     /note="DDP-like protein; deafness dystonia protein 2"
                     /codon_start=1
                     /product="mitochondrial import inner membrane translocase
                     subunit Tim8 B"
                     /protein_id="NP_036591.3"
                     /db_xref="CCDS:CCDS8357.3"
                     /db_xref="GeneID:26521"
                     /db_xref="HGNC:HGNC:11818"
                     /db_xref="MIM:606659"
                     /translation="MAELGEADEAELQRLVAAEQQKAQFTAQVHHFMELCWDKCVEKP
                     GNRLDSRTENCLSSCVDRFIDTTLAITSRFAQIVQKGGQ"
     exon            118..780
                     /gene="TIMM8B"
                     /gene_synonym="DDP2; TIM8B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      414..419
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TIMM8B"
                     /gene_synonym="DDP2; TIM8B"
                     /note="hexamer: AGTAAA"
     polyA_site      435
                     /gene="TIMM8B"
                     /gene_synonym="DDP2; TIM8B"
                     /note="major polyA site"
     regulatory      712..717
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TIMM8B"
                     /gene_synonym="DDP2; TIM8B"
                     /note="hexamer: AACAAA"
     polyA_site      751
                     /gene="TIMM8B"
                     /gene_synonym="DDP2; TIM8B"
ORIGIN      
        1 agctgtcgga aggtggcgag cctgaggcga acaatggcgg agctgggcga agccgatgaa
       61 gcggagttgc agcgcctggt ggccgccgag cagcagaagg cgcagtttac tgcacaggtg
      121 catcacttca tggagttatg ttgggataaa tgtgtggaga agccagggaa tcgcctagac
      181 tctcgcactg aaaattgtct ctccagctgt gtagaccgct tcattgacac cactcttgcc
      241 atcaccagtc ggtttgccca gattgtacag aaaggagggc agtaggccat cccccaggag
      301 aatgacagaa gcaaaggact tgttactaag cagatttaag ggtcagtggg ggaaggctat
      361 caacccattg tcagatcagc atcaggctgt tatcaagtct gttggtgcta aaaagtaaaa
      421 gatgaaatgt tcaaagagtg aaatttattt atttggaatt cagaaattcc aggttgtatg
      481 acatcagtta ctcaataagt gtgaattctc caactcttct tttaatccca ttttagaatt
      541 taatatagag atctctgatt ggcaggaaca ctagaaataa atgttccatg gccagtagtg
      601 caaatggggg attgtaggtt ttgaaaaacc accctaagcc atattaaggg ggttggaaga
      661 accatcgaag cctaaggcat agaagaaaat ttggggttaa gaaagatgaa gaacaaaaaa
      721 cagctttatt gcttatacat gaccaagaaa aggaaaacat ggcaaaaaaa aaaaaaaaaa
//
