LOCUS       NM_001395498             818 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens translocase of inner mitochondrial membrane 17B
            (TIMM17B), transcript variant 4, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_001395498
VERSION     NM_001395498.1
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 818)
  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 818)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 818)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 818)
  AUTHORS   Richter,F., Dennerlein,S., Nikolov,M., Jans,D.C., Naumenko,N.,
            Aich,A., MacVicar,T., Linden,A., Jakobs,S., Urlaub,H., Langer,T.
            and Rehling,P.
  TITLE     ROMO1 is a constituent of the human presequence translocase
            required for YME1L protease import
  JOURNAL   J Cell Biol 218 (2), 598-614 (2019)
   PUBMED   30598479
REFERENCE   5  (bases 1 to 818)
  AUTHORS   Schusdziarra,C., Blamowska,M., Azem,A. and Hell,K.
  TITLE     Methylation-controlled J-protein MCJ acts in the import of proteins
            into human mitochondria
  JOURNAL   Hum Mol Genet 22 (7), 1348-1357 (2013)
   PUBMED   23263864
REFERENCE   6  (bases 1 to 818)
  AUTHORS   Shames,S.R., Croxen,M.A., Deng,W. and Finlay,B.B.
  TITLE     The type III system-secreted effector EspZ localizes to host
            mitochondria and interacts with the translocase of inner
            mitochondrial membrane 17b
  JOURNAL   Infect Immun 79 (12), 4784-4790 (2011)
   PUBMED   21947777
  REMARK    GeneRIF: The findings of this study together provide the first
            evidence that EspZ localizes to host mitochondria and that TIM17b
            contributes to protection against rapid cell death during EPEC
            infection.
REFERENCE   7  (bases 1 to 818)
  AUTHORS   Sinha,D., Joshi,N., Chittoor,B., Samji,P. and D'Silva,P.
  TITLE     Role of Magmas in protein transport and human mitochondria
            biogenesis
  JOURNAL   Hum Mol Genet 19 (7), 1248-1262 (2010)
   PUBMED   20053669
REFERENCE   8  (bases 1 to 818)
  AUTHORS   Tarpey,P.S., Smith,R., Pleasance,E., Whibley,A., Edkins,S.,
            Hardy,C., O'Meara,S., Latimer,C., Dicks,E., Menzies,A.,
            Stephens,P., Blow,M., Greenman,C., Xue,Y., Tyler-Smith,C.,
            Thompson,D., Gray,K., Andrews,J., Barthorpe,S., Buck,G., Cole,J.,
            Dunmore,R., Jones,D., Maddison,M., Mironenko,T., Turner,R.,
            Turrell,K., Varian,J., West,S., Widaa,S., Wray,P., Teague,J.,
            Butler,A., Jenkinson,A., Jia,M., Richardson,D., Shepherd,R.,
            Wooster,R., Tejada,M.I., Martinez,F., Carvill,G., Goliath,R., de
            Brouwer,A.P., van Bokhoven,H., Van Esch,H., Chelly,J., Raynaud,M.,
            Ropers,H.H., Abidi,F.E., Srivastava,A.K., Cox,J., Luo,Y.,
            Mallya,U., Moon,J., Parnau,J., Mohammed,S., Tolmie,J.L.,
            Shoubridge,C., Corbett,M., Gardner,A., Haan,E., Rujirabanjerd,S.,
            Shaw,M., Vandeleur,L., Fullston,T., Easton,D.F., Boyle,J.,
            Partington,M., Hackett,A., Field,M., Skinner,C., Stevenson,R.E.,
            Bobrow,M., Turner,G., Schwartz,C.E., Gecz,J., Raymond,F.L.,
            Futreal,P.A. and Stratton,M.R.
  TITLE     A systematic, large-scale resequencing screen of X-chromosome
            coding exons in mental retardation
  JOURNAL   Nat Genet 41 (5), 535-543 (2009)
   PUBMED   19377476
REFERENCE   9  (bases 1 to 818)
  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
REFERENCE   10 (bases 1 to 818)
  AUTHORS   Rassow,J., Dekker,P.J., van Wilpe,S., Meijer,M. and Soll,J.
  TITLE     The preprotein translocase of the mitochondrial inner membrane:
            function and evolution
  JOURNAL   J Mol Biol 286 (1), 105-120 (1999)
   PUBMED   9931253
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC233300.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a multipass transmembrane protein that
            forms an integral component of the mitochondrial translocase TIM23
            complex. This complex facilitates the transport of mitochondrial
            proteins from the cytosol across the mitochondrial inner membrane
            and into the mitochondrion. There is a pseudogene for this gene on
            chromosome 12. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Aug 2013].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ005895.1, BC010142.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000696123.1/
                                                  ENSP00000512416.1
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-45                AC233300.2         135511-135555       c
            46-145              AC233300.2         134546-134645       c
            146-209             AC233300.2         132825-132888       c
            210-338             AC233300.2         131884-132012       c
            339-449             AC233300.2         131687-131797       c
            450-818             AC233300.2         131236-131604       c
FEATURES             Location/Qualifiers
     source          1..818
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..818
                     /gene="TIMM17B"
                     /gene_synonym="DXS9822; JM3; TIM17B"
                     /note="translocase of inner mitochondrial membrane 17B"
                     /db_xref="GeneID:10245"
                     /db_xref="HGNC:HGNC:17310"
                     /db_xref="MIM:300249"
     exon            1..45
                     /gene="TIMM17B"
                     /gene_synonym="DXS9822; JM3; TIM17B"
                     /inference="alignment:Splign:2.1.0"
     CDS             20..538
                     /gene="TIMM17B"
                     /gene_synonym="DXS9822; JM3; TIM17B"
                     /note="isoform 2 is encoded by transcript variant 4; inner
                     mitochondrial membrane preprotein translocase;
                     mitochondrial import inner membrane translocase subunit
                     Tim17-B; translocase of inner mitochondrial membrane 17
                     homolog B"
                     /codon_start=1
                     /product="mitochondrial import inner membrane translocase
                     subunit Tim17-B isoform 2"
                     /protein_id="NP_001382427.1"
                     /db_xref="CCDS:CCDS14308.1"
                     /db_xref="GeneID:10245"
                     /db_xref="HGNC:HGNC:17310"
                     /db_xref="MIM:300249"
                     /translation="MEEYAREPCPWRIVDDCGGAFTMGVIGGGVFQAIKGFRNAPVGI
                     RHRLRGSANAVRIRAPQIGGSFAVWGGLFSTIDCGLVRLRGKEDPWNSITSGALTGAV
                     LAARSGPLAMVGSAMMGGILLALIEGVGILLTRYTAQQFRNAPPFLEDPSQLPPKDGT
                     PAPGYPSYQQYH"
     exon            46..145
                     /gene="TIMM17B"
                     /gene_synonym="DXS9822; JM3; TIM17B"
                     /inference="alignment:Splign:2.1.0"
     exon            146..209
                     /gene="TIMM17B"
                     /gene_synonym="DXS9822; JM3; TIM17B"
                     /inference="alignment:Splign:2.1.0"
     exon            210..338
                     /gene="TIMM17B"
                     /gene_synonym="DXS9822; JM3; TIM17B"
                     /inference="alignment:Splign:2.1.0"
     exon            339..449
                     /gene="TIMM17B"
                     /gene_synonym="DXS9822; JM3; TIM17B"
                     /inference="alignment:Splign:2.1.0"
     exon            450..818
                     /gene="TIMM17B"
                     /gene_synonym="DXS9822; JM3; TIM17B"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      818
                     /gene="TIMM17B"
                     /gene_synonym="DXS9822; JM3; TIM17B"
                     /note="major polyA site"
ORIGIN      
        1 gcggccagac gccagcgcca tggaggagta cgctcgggag ccctgcccat ggcgaattgt
       61 ggatgattgc ggtggagcct tcactatggg tgtcatcggt ggcggagtct tccaggccat
      121 caagggtttc cgcaatgccc ctgttggaat tcggcaccgg ttgagaggta gtgccaatgc
      181 tgtgaggatc cgagcccccc agattggagg tagcttcgca gtgtgggggg gcctgttctc
      241 caccatcgac tgtggcctgg tgcggcttcg gggcaaggag gatccctgga actctatcac
      301 cagtggagca ttgaccgggg ctgtgctggc tgcccgcagt ggcccactgg ccatggtggg
      361 ctcagcaatg atggggggca tcctgttggc cctcattgag ggcgttggca tcctcctcac
      421 tcgctacaca gcccagcagt tccgaaatgc gcccccattc ctggaggacc ccagccagct
      481 gccccctaag gatggcaccc cggccccagg ctaccccagc tatcagcagt accactgagg
      541 aagccactgc caccatggga gctacttctc ggttccctcc ccgatggtct acctcgaagg
      601 gagggctggc tcccagttag ccctgggacc ctccagagag ggtttctact ctgctcccta
      661 gtcccagggt gggggtgggg caccccagct gccctgacag atgggtcccc tttttctctc
      721 tcagggcacc ccagccccac actcacatgt acgaagttct caccccagct cctttgtgtg
      781 gcaccctgat gagtatttaa agcccgtttt gaaatgcc
//
