LOCUS       NM_032317               2536 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens DnaJ heat shock protein family (Hsp40) member C30
            (DNAJC30), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_032317
VERSION     NM_032317.3
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 2536)
  AUTHORS   Skorczyk-Werner,A., Tonska,K., Maciejczuk,A., Nowomiejska,K.,
            Korwin,M., Oldak,M., Wawrocka,A. and Krawczynski,M.R.
  TITLE     DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber
            Hereditary Optic Neuropathy in Polish Patients
  JOURNAL   Int J Mol Sci 24 (24), 17496 (2023)
   PUBMED   38139324
  REMARK    GeneRIF: DNAJC30 Gene Variants Are a Frequent Cause of a Rare
            Disease: Leber Hereditary Optic Neuropathy in Polish Patients.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2536)
  AUTHORS   Mauring,L., Puusepp,S., Parik,M., Roomets,E., Teek,R., Reimand,T.,
            Pajusalu,S., Kaljurand,K. and Ounap,K.
  TITLE     Autosomal recessive Leber's hereditary optic neuropathy caused by a
            homozygous variant in DNAJC30 gene
  JOURNAL   Eur J Med Genet 66 (9), 104821 (2023)
   PUBMED   37579815
  REMARK    GeneRIF: Autosomal recessive Leber's hereditary optic neuropathy
            caused by a homozygous variant in DNAJC30 gene.
REFERENCE   3  (bases 1 to 2536)
  AUTHORS   Nesti,C., Ticci,C., Rubegni,A., Doccini,S., Scaturro,G., Vetro,A.,
            Guerrini,R., Santorelli,F.M. and Procopio,E.
  TITLE     Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh
            syndrome
  JOURNAL   J Neurol 270 (6), 3266-3269 (2023)
   PUBMED   36939934
  REMARK    GeneRIF: Additive effect of DNAJC30 and NDUFA9 mutations causing
            Leigh syndrome.
REFERENCE   4  (bases 1 to 2536)
  AUTHORS   Kieninger,S., Xiao,T., Weisschuh,N., Kohl,S., Ruther,K.,
            Kroisel,P.M., Brockmann,T., Knappe,S., Kellner,U., Lagreze,W.,
            Mazzola,P., Haack,T.B., Wissinger,B. and Tonagel,F.
  TITLE     DNAJC30 disease-causing gene variants in a large Central European
            cohort of patients with suspected Leber's hereditary optic
            neuropathy and optic atrophy
  JOURNAL   J Med Genet 59 (10), 1027-1034 (2022)
   PUBMED   35091433
  REMARK    GeneRIF: DNAJC30 disease-causing gene variants in a large Central
            European cohort of patients with suspected Leber's hereditary optic
            neuropathy and optic atrophy.
REFERENCE   5  (bases 1 to 2536)
  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   6  (bases 1 to 2536)
  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   7  (bases 1 to 2536)
  AUTHORS   Tebbenkamp,A.T.N., Varela,L., Choi,J., Paredes,M.I., Giani,A.M.,
            Song,J.E., Sestan-Pesa,M., Franjic,D., Sousa,A.M.M., Liu,Z.W.,
            Li,M., Bichsel,C., Koch,M., Szigeti-Buck,K., Liu,F., Li,Z.,
            Kawasawa,Y.I., Paspalas,C.D., Mineur,Y.S., Prontera,P., Merla,G.,
            Picciotto,M.R., Arnsten,A.F.T., Horvath,T.L. and Sestan,N.
  TITLE     The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links
            Mitochondria to Brain Development
  JOURNAL   Cell 175 (4), 1088-1104 (2018)
   PUBMED   30318146
REFERENCE   8  (bases 1 to 2536)
  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   9  (bases 1 to 2536)
  AUTHORS   Lehner,B. and Sanderson,C.M.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
REFERENCE   10 (bases 1 to 2536)
  AUTHORS   Merla,G., Ucla,C., Guipponi,M. and Reymond,A.
  TITLE     Identification of additional transcripts in the Williams-Beuren
            syndrome critical region
  JOURNAL   Hum Genet 110 (5), 429-438 (2002)
   PUBMED   12073013
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073846.6.
            
            On May 17, 2019 this sequence version replaced NM_032317.2.
            
            Summary: This intronless gene encodes a member of the DNAJ
            molecular chaperone homology domain-containing protein family. This
            gene is deleted in Williams syndrome, a multisystem developmental
            disorder caused by the deletion of contiguous genes at 7q11.23.
            [provided by RefSeq, Jul 2008].
            
            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 is intronless :: AK094305.1, SRR3476690.846218.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000395176.3/ ENSP00000378605.1
            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
            1-2536              AC073846.6         83491-86026
FEATURES             Location/Qualifiers
     source          1..2536
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..2536
                     /gene="DNAJC30"
                     /gene_synonym="LHONAR; LHONAR1; MC1DN38; WBSCR18"
                     /note="DnaJ heat shock protein family (Hsp40) member C30"
                     /db_xref="GeneID:84277"
                     /db_xref="HGNC:HGNC:16410"
                     /db_xref="MIM:618202"
     exon            1..2536
                     /gene="DNAJC30"
                     /gene_synonym="LHONAR; LHONAR1; MC1DN38; WBSCR18"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..711
                     /gene="DNAJC30"
                     /gene_synonym="LHONAR; LHONAR1; MC1DN38; WBSCR18"
                     /note="Williams Beuren syndrome chromosome region 18;
                     williams-Beuren syndrome chromosomal region 18 protein;
                     DnaJ (Hsp40) homolog, subfamily C, member 30; dnaJ homolog
                     subfamily C member 30, mitochondrial"
                     /codon_start=1
                     /product="dnaJ homolog subfamily C member 30,
                     mitochondrial precursor"
                     /protein_id="NP_115693.2"
                     /db_xref="CCDS:CCDS5556.1"
                     /db_xref="GeneID:84277"
                     /db_xref="HGNC:HGNC:16410"
                     /db_xref="MIM:618202"
                     /translation="MAAMRWRWWQRLLPWRLLQARGFPQNSAPSLGLGARTYSQGDCS
                     YSRTALYDLLGVPSTATQAQIKAAYYRQCFLYHPDRNSGSAEAAERFTRISQAYVVLG
                     SATLRRKYDRGLLSDEDLRGPGVRPSRTPAPDPGSPRTPPPTSRTHDGSRASPGANRT
                     MFNFDAFYQAHYGEQLERERRLRARREALRKRQEYRSMKGLRWEDTRDTAAIFLIFSI
                     FIIIGFYI"
     regulatory      1158..1163
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAJC30"
                     /gene_synonym="LHONAR; LHONAR1; MC1DN38; WBSCR18"
                     /note="hexamer: AAGAAA"
     polyA_site      1183
                     /gene="DNAJC30"
                     /gene_synonym="LHONAR; LHONAR1; MC1DN38; WBSCR18"
                     /note="major polyA site"
     regulatory      1929..1934
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAJC30"
                     /gene_synonym="LHONAR; LHONAR1; MC1DN38; WBSCR18"
                     /note="hexamer: AATAGA"
     polyA_site      1949
                     /gene="DNAJC30"
                     /gene_synonym="LHONAR; LHONAR1; MC1DN38; WBSCR18"
     regulatory      2369..2374
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAJC30"
                     /gene_synonym="LHONAR; LHONAR1; MC1DN38; WBSCR18"
                     /note="hexamer: AACAAA"
     polyA_site      2392
                     /gene="DNAJC30"
                     /gene_synonym="LHONAR; LHONAR1; MC1DN38; WBSCR18"
     regulatory      2464..2469
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAJC30"
                     /gene_synonym="LHONAR; LHONAR1; MC1DN38; WBSCR18"
                     /note="hexamer: GATAAA"
     polyA_site      2485
                     /gene="DNAJC30"
                     /gene_synonym="LHONAR; LHONAR1; MC1DN38; WBSCR18"
ORIGIN      
        1 ctcttgcacc gcctgccgaa tcaattcaac atggcagcca tgcgctggcg atggtggcag
       61 cggctgttac cttggaggtt gctgcaggcc cgtggctttc cacaaaattc tgcacccagc
      121 ctgggcctag gagcgaggac ttattcccag ggcgactgct cgtattcgcg cacggcgctg
      181 tatgatctgc tcggcgtccc ctccacagcc acgcaggccc aaatcaaggc ggcttactac
      241 cgtcagtgct ttctctacca cccggaccgc aactccggga gcgcggaggc cgccgagcgc
      301 ttcacgcgca tctcccaggc ctacgtggtg ctgggcagtg ccaccctccg tcgcaagtat
      361 gatcgcggcc tactcagcga cgaggacctg cgcggacctg gcgtccggcc ctccaggacg
      421 cccgcacccg accccggctc gccgcgtacc ccgccgccca cctctcggac ccacgacggt
      481 tctcgggcct cccccggcgc caaccgcacg atgttcaact ttgacgcctt ctaccaggcc
      541 cactacgggg aacaactgga gcgggaacgg cgcctgaggg cccggcggga ggcccttcgc
      601 aaacggcagg agtatcggtc catgaaaggc ctccgctggg aggatacccg agacacggct
      661 gccattttcc tcatcttttc aatcttcatc atcatcggct tttatattta atcggagaga
      721 gaagggaagg ggagtgtccc cagccaaccc cccagaaacg gccttttttc ctgcctctga
      781 acccttggcc attgatagtc tacctttgct gggatccgaa ggaactgtac tccccctgcc
      841 ctccccgacc cgcccagctt agccgatgac ctgcacatcg ctccactgtg gtccagaaaa
      901 ggaggccttt cgatgtctga gaaagaggcc ccacgctgta gagtcccgaa agcccaggag
      961 tgaagggggt tcctggagtc tctagggtgc ttcttccaga gtctgtcttc ttgcttccag
     1021 atgtggtcaa cttctggaac actcgctgta gctttattgt ttagccccaa gcaagattta
     1081 tctcctcctg ccccgcatgt gtatggtggg cctctgtaac cttgaaatgt gcaatgtgac
     1141 caattgttga ctaccaaaag aaaaggtctg gggttgtacg aaacttgtct ttctgtgact
     1201 tccccaagcc gcaggtgaga cctggtccag ggtaagaatg ggatcggtgg agagcctgtc
     1261 gttcctcccg ctaaggtcag ccccctgggg cactcctcct tatgttgata gcatgtagga
     1321 gtgagaaaaa gtcattgagc ataaggaatg agtgttcctg tgcccatatt taatgtgtga
     1381 ccttggagaa gttactctgt aggcatgaca gcagaggaga aaatcatttg gcatcttgag
     1441 gtctgtcatg ctttattatc catagttttt ggggggtttt ttgttttgtt ttgtttttga
     1501 gatggagtct tgcgctctgt tgcccaggct ggagtgcagt ggtgcgatct tagctcactg
     1561 caacctccac ctcccgggtt caagcgattc tcctgcctca gcctcctgtg taactgggat
     1621 tacaggctcc caccacacct ggctagtgtt ttgtattttt agtagatacg gggtttcacc
     1681 atgctggcca gactgaggtc tcgaactgcc gacctcaggc tgtctgcccg tccagcctcc
     1741 caaagtgctg ggattgcagg catgagccac tgctcccggc cctattatcc atagttctaa
     1801 tccacaggga ttacagcata atgctagcag ggccaggttc atccttgaga cagtgtggct
     1861 ggctgtcacc tggtcctccc tttaccagcc agccccattg cacactgtgc agcccatccc
     1921 ctcccagaaa tagagtgaca aactctgcac ttaagtcccc tgtttctgtt taacttgcag
     1981 tgcttatcac aggcccttcc ttaatttttt aaacaaggct gcttgaggct ggggtaaatt
     2041 ttggggcttt gggagtacac aggactactg agggacgggg agttggtggc ttggtgttca
     2101 tggtggagac ttggttcttt acgcagagca ggctaaaggc gtgttttttc tgctctgttt
     2161 ctaattcatg ttaagtagtt ggtcatcact ttggtcagag ctgctgctga agctctctta
     2221 actgtgagtc actggacgtt ggcagggagt tggctgtgag attgtaggtg ctcaagtgtt
     2281 tctgttcggg actgagtgtg aatctgtaaa aggggaaaat cctcgcaaga ggtctacgag
     2341 aaggatgagg gcccaagtct agggtctaaa caaagccagg agtggtttgg tatattactg
     2401 agtgcaatca ttgcgtgcca ttcctgcact caatgtattg tgtaaaatcc ttaggtaaaa
     2461 tgggataaac ccacagctgg tcctacttgg cctcttgaaa accattccat cattgtgcca
     2521 atctagcctg aaaagg
//
