LOCUS       NM_145261               1416 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens DnaJ heat shock protein family (Hsp40) member C19
            (DNAJC19), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_145261
VERSION     NM_145261.4
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 1416)
  AUTHORS   Janz,A., Walz,K., Cirnu,A., Surjanto,J., Urlaub,D., Leskien,M.,
            Kohlhaas,M., Nickel,A., Brand,T., Nose,N., Worsdorfer,P.,
            Wagner,N., Higuchi,T., Maack,C., Dudek,J., Lorenz,K., Klopocki,E.,
            Ergun,S., Duff,H.J. and Gerull,B.
  TITLE     Mutations in DNAJC19 cause altered mitochondrial structure and
            increased mitochondrial respiration in human iPSC-derived
            cardiomyocytes
  JOURNAL   Mol Metab 79, 101859 (2024)
   PUBMED   38142971
  REMARK    GeneRIF: Mutations in DNAJC19 cause altered mitochondrial structure
            and increased mitochondrial respiration in human iPSC-derived
            cardiomyocytes.
REFERENCE   2  (bases 1 to 1416)
  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 1416)
  AUTHORS   Sinha,D., Srivastava,S. and D'Silva,P.
  TITLE     Functional Diversity of Human Mitochondrial J-proteins Is
            Independent of Their Association with the Inner Membrane
            Presequence Translocase
  JOURNAL   J Biol Chem 291 (33), 17345-17359 (2016)
   PUBMED   27330077
  REMARK    GeneRIF: Both DnaJC15 and DnaJC19 formed two distinct subcomplexes
            with Magmas at the import channel.
REFERENCE   4  (bases 1 to 1416)
  AUTHORS   Yang,X., Coulombe-Huntington,J., Kang,S., Sheynkman,G.M., Hao,T.,
            Richardson,A., Sun,S., Yang,F., Shen,Y.A., Murray,R.R., Spirohn,K.,
            Begg,B.E., Duran-Frigola,M., MacWilliams,A., Pevzner,S.J.,
            Zhong,Q., Wanamaker,S.A., Tam,S., Ghamsari,L., Sahni,N., Yi,S.,
            Rodriguez,M.D., Balcha,D., Tan,G., Costanzo,M., Andrews,B.,
            Boone,C., Zhou,X.J., Salehi-Ashtiani,K., Charloteaux,B., Chen,A.A.,
            Calderwood,M.A., Aloy,P., Roth,F.P., Hill,D.E., Iakoucheva,L.M.,
            Xia,Y. and Vidal,M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   5  (bases 1 to 1416)
  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   6  (bases 1 to 1416)
  AUTHORS   Elsner,S., Simian,D., Iosefson,O., Marom,M. and Azem,A.
  TITLE     The mitochondrial protein translocation motor: structural
            conservation between the human and yeast Tim14/Pam18-Tim16/Pam16
            co-chaperones
  JOURNAL   Int J Mol Sci 10 (5), 2041-2053 (2009)
   PUBMED   19564938
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1416)
  AUTHORS   Sparkes,R., Patton,D. and Bernier,F.
  TITLE     Cardiac features of a novel autosomal recessive dilated
            cardiomyopathic syndrome due to defective importation of
            mitochondrial protein
  JOURNAL   Cardiol Young 17 (2), 215-217 (2007)
   PUBMED   17244376
  REMARK    GeneRIF: Dilated cardiomyopathy caused by homozygous mutations in a
            novel gene, DNAJC19, presumed to play a role in importation of
            mitochondrial proteins.
REFERENCE   8  (bases 1 to 1416)
  AUTHORS   Davey,K.M., Parboosingh,J.S., McLeod,D.R., Chan,A., Casey,R.,
            Ferreira,P., Snyder,F.F., Bridge,P.J. and Bernier,F.P.
  TITLE     Mutation of DNAJC19, a human homologue of yeast inner mitochondrial
            membrane co-chaperones, causes DCMA syndrome, a novel autosomal
            recessive Barth syndrome-like condition
  JOURNAL   J Med Genet 43 (5), 385-393 (2006)
   PUBMED   16055927
  REMARK    GeneRIF: The association of dilated cardiomyopathy with ataxia
            (DCMA) syndrome with a segment of 3q26.33 and the identification of
            a splice mutation in a novel gene DNAJC19 in DCMA patients.
REFERENCE   9  (bases 1 to 1416)
  AUTHORS   Mokranjac,D., Sichting,M., Neupert,W. and Hell,K.
  TITLE     Tim14, a novel key component of the import motor of the TIM23
            protein translocase of mitochondria
  JOURNAL   EMBO J 22 (19), 4945-4956 (2003)
   PUBMED   14517234
REFERENCE   10 (bases 1 to 1416)
  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 DA158066.1, BC073989.1 and
            AC008009.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_145261.3.
            
            Summary: The protein encoded by this gene is thought to be part of
            a complex involved in the ATP-dependent transport of transit
            peptide-containing proteins from the inner cell membrane to the
            mitochondrial matrix. Defects in this gene are a cause of
            3-methylglutaconic aciduria type 5 (MGA5), also known as dilated
            cardiomyopathy with ataxia (DCMA). Alternative splicing of this
            gene results in multiple transcript variants. Related pseudogenes
            have been identified on chromosomes 1, 2, 6, 10, 14 and 19.
            [provided by RefSeq, Jan 2012].
            
            Transcript Variant: This variant (1) 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 :: SRR5189652.131706.1,
                                           SRR1660807.98900.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000382564.8/
                                                  ENSP00000372005.2
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                DA158066.1         39-55
            18-1060             BC073989.1         1-1043
            1061-1061           AC008009.5         79956-79956         c
            1062-1416           BC073989.1         1045-1399
FEATURES             Location/Qualifiers
     source          1..1416
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.33"
     gene            1..1416
                     /gene="DNAJC19"
                     /gene_synonym="PAM18; TIM14; TIMM14"
                     /note="DnaJ heat shock protein family (Hsp40) member C19"
                     /db_xref="GeneID:131118"
                     /db_xref="HGNC:HGNC:30528"
                     /db_xref="MIM:608977"
     exon            1..137
                     /gene="DNAJC19"
                     /gene_synonym="PAM18; TIM14; TIMM14"
                     /inference="alignment:Splign:2.1.0"
     CDS             135..485
                     /gene="DNAJC19"
                     /gene_synonym="PAM18; TIM14; TIMM14"
                     /note="isoform 1 is encoded by transcript variant 1;
                     homolog of yeast TIM14; mitochondrial import inner
                     membrane translocase subunit TIM14; DnaJ (Hsp40) homolog,
                     subfamily C, member 19; DnaJ-like protein subfamily C
                     member 19"
                     /codon_start=1
                     /product="mitochondrial import inner membrane translocase
                     subunit TIM14 isoform 1"
                     /protein_id="NP_660304.1"
                     /db_xref="CCDS:CCDS33895.1"
                     /db_xref="GeneID:131118"
                     /db_xref="HGNC:HGNC:30528"
                     /db_xref="MIM:608977"
                     /translation="MASTVVAVGLTIAAAGFAGRYVLQAMKHMEPQVKQVFQSLPKSA
                     FSGGYYRGGFEPKMTKREAALILGVSPTANKGKIRDAHRRIMLLNHPDKGGSPYIAAK
                     INEAKDLLEGQAKK"
     exon            138..189
                     /gene="DNAJC19"
                     /gene_synonym="PAM18; TIM14; TIMM14"
                     /inference="alignment:Splign:2.1.0"
     exon            190..263
                     /gene="DNAJC19"
                     /gene_synonym="PAM18; TIM14; TIMM14"
                     /inference="alignment:Splign:2.1.0"
     exon            264..343
                     /gene="DNAJC19"
                     /gene_synonym="PAM18; TIM14; TIMM14"
                     /inference="alignment:Splign:2.1.0"
     exon            344..414
                     /gene="DNAJC19"
                     /gene_synonym="PAM18; TIM14; TIMM14"
                     /inference="alignment:Splign:2.1.0"
     exon            415..1416
                     /gene="DNAJC19"
                     /gene_synonym="PAM18; TIM14; TIMM14"
                     /inference="alignment:Splign:2.1.0"
     regulatory      548..553
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAJC19"
                     /gene_synonym="PAM18; TIM14; TIMM14"
                     /note="hexamer: AATAAA"
     polyA_site      580
                     /gene="DNAJC19"
                     /gene_synonym="PAM18; TIM14; TIMM14"
                     /note="major polyA site"
     polyA_site      606
                     /gene="DNAJC19"
                     /gene_synonym="PAM18; TIM14; TIMM14"
     regulatory      1064..1069
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAJC19"
                     /gene_synonym="PAM18; TIM14; TIMM14"
                     /note="hexamer: ATTAAA"
     polyA_site      1085
                     /gene="DNAJC19"
                     /gene_synonym="PAM18; TIM14; TIMM14"
     regulatory      1388..1393
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAJC19"
                     /gene_synonym="PAM18; TIM14; TIMM14"
                     /note="hexamer: AATAAA"
     polyA_site      1416
                     /gene="DNAJC19"
                     /gene_synonym="PAM18; TIM14; TIMM14"
ORIGIN      
        1 gtgttgcgta gggcgcctgt gcttgaggtt gggggttgcg tcgctctctg gtaaaggcgt
       61 gcaggtgttg gccgcggcct ctgagctggg atgagccgtg ctcccggtgg aagcaaggga
      121 gcccagccgg agccatggcc agtacagtgg tagcagttgg actgaccatt gctgctgcag
      181 gatttgcagg ccgttacgtt ttgcaagcca tgaagcatat ggagcctcaa gtaaaacaag
      241 tttttcaaag cctaccaaaa tctgccttca gtggtggcta ttatagaggt gggtttgaac
      301 ccaaaatgac aaaacgggaa gcagcattaa tactaggtgt aagccctact gccaataaag
      361 ggaaaataag agatgctcat cgacgaatta tgcttttaaa tcatcctgac aaaggaggat
      421 ctccttatat agcagccaaa atcaatgaag ctaaagattt actagaaggt caagctaaaa
      481 aatgaagtaa atgtatgatg aattttaagt tcgtattagt ttatgtatat gagtactaag
      541 tttttataat aaaatgcctc agagctacaa ttttaaaaaa tgatttagca caagctaaat
      601 ctcaaagcct tggtataatt ttcttgttta aatttgggga ttttaaatca gattatagtt
      661 tagaatattt gcgtattaat tatgggcaag cacacacctt ctgaatagaa atattgttca
      721 ttactcattt agcagataat ttgggaccta tgtctacttt tcaaggcaaa gtgaagatga
      781 cagtccttgc tctcagggag cccccacttt aatgggagac tgataaactg gtaattagac
      841 tgtgataaat agtatgatgg aaattagctt aagctgttta agtagggact cttcttattc
      901 ggtggaaagg ctgttccagg tacaggcaac tggcctggca acttggatac ttggaacctt
      961 gtatttaaaa gtgaatttaa ccacaactga gacctaagaa attgacctag gggtgtgtgt
     1021 gtgtgtgtat tctatgtaca tataaaccat ttttatttca tgcattaaaa atagtatgat
     1081 aaagatttca gagtacaggt ctggtacaat cacagttcat tgcagcctca acctcctggg
     1141 tttaagcagt cctcccgcct cagcctccca aagtactggg attacaggca tgagtattta
     1201 cattgtattc agctagcccc ttaaaggtaa tgaccattta taaattattc cttcagttgg
     1261 ctatttcttg acataatcaa acttctgcaa ttgttatgat taagcttaaa ccctgttagc
     1321 aaaactgaaa actgaaatgt tctcaatatc aacatattta atttggactc tttagaattt
     1381 atacactaat aaatttaaat gatgtttaaa ggcaaa
//
