LOCUS       NM_025219               5249 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens DnaJ heat shock protein family (Hsp40) member C5
            (DNAJC5), mRNA.
ACCESSION   NM_025219 XM_375926
VERSION     NM_025219.3
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 5249)
  AUTHORS   Xu,H., Shen,P., Fang,J., Jiang,J., Shi,Y., Xu,P., Jiang,R. and
            Wang,Z.
  TITLE     LINC00624 affects hepatocellular carcinoma proliferation and
            apoptosis through the miR-342-3p/DNAJC5 axis
  JOURNAL   J Biochem Mol Toxicol 38 (2), e23650 (2024)
   PUBMED   38348704
  REMARK    GeneRIF: LINC00624 affects hepatocellular carcinoma proliferation
            and apoptosis through the miR-342-3p/DNAJC5 axis.
REFERENCE   2  (bases 1 to 5249)
  AUTHORS   Flores-Montero,K., Berberian,M.V., Mayorga,L.S., Tomes,C.N. and
            Ruete,M.C.
  TITLE     The molecular chaperone cysteine string protein is required for
            monomeric SNARE proteins to assemble in trans-complexes during
            human sperm acrosomal exocytosisdagger
  JOURNAL   Biol Reprod 108 (2), 229-240 (2023)
   PUBMED   36308432
  REMARK    GeneRIF: The molecular chaperone cysteine string protein is
            required for monomeric SNARE proteins to assemble in
            trans-complexes during human sperm acrosomal exocytosisdagger.
REFERENCE   3  (bases 1 to 5249)
  AUTHORS   Wu,S., Hernandez Villegas,N.C., Sirkis,D.W., Thomas-Wright,I.,
            Wade-Martins,R. and Schekman,R.
  TITLE     Unconventional secretion of alpha-synuclein mediated by
            palmitoylated DNAJC5 oligomers
  JOURNAL   Elife 12, e85837 (2023)
   PUBMED   36626307
  REMARK    GeneRIF: Unconventional secretion of alpha-synuclein mediated by
            palmitoylated DNAJC5 oligomers.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5249)
  AUTHORS   Lee,J., Xu,Y., Saidi,L., Xu,M., Zinsmaier,K. and Ye,Y.
  TITLE     Abnormal triaging of misfolded proteins by adult neuronal ceroid
            lipofuscinosis-associated DNAJC5/CSPalpha mutants causes lipofuscin
            accumulation
  JOURNAL   Autophagy 19 (1), 204-223 (2023)
   PUBMED   35506243
  REMARK    GeneRIF: Abnormal triaging of misfolded proteins by adult neuronal
            ceroid lipofuscinosis-associated DNAJC5/CSPalpha mutants causes
            lipofuscin accumulation.
REFERENCE   5  (bases 1 to 5249)
  AUTHORS   Johnson,J.N., Ahrendt,E. and Braun,J.E.
  TITLE     CSPalpha: the neuroprotective J protein
  JOURNAL   Biochem Cell Biol 88 (2), 157-165 (2010)
   PUBMED   20453918
  REMARK    Review article
REFERENCE   6  (bases 1 to 5249)
  AUTHORS   Coppola,T. and Gundersen,C.
  TITLE     Widespread expression of human cysteine string proteins
  JOURNAL   FEBS Lett 391 (3), 269-272 (1996)
   PUBMED   8764987
REFERENCE   7  (bases 1 to 5249)
  AUTHORS   Mole,S.E. and Williams,R.E.
  TITLE     Neuronal Ceroid-Lipofuscinoses - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301601
REFERENCE   8  (bases 1 to 5249)
  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
REFERENCE   9  (bases 1 to 5249)
  AUTHORS   Goebel,H.H. and Braak,H.
  TITLE     Adult neuronal ceroid-lipofuscinosis
  JOURNAL   Clin Neuropathol 8 (3), 109-119 (1989)
   PUBMED   2663281
  REMARK    Review article
REFERENCE   10 (bases 1 to 5249)
  AUTHORS   Berkovic,S.F., Carpenter,S., Andermann,F., Andermann,E. and
            Wolfe,L.S.
  TITLE     Kufs' disease: a critical reappraisal
  JOURNAL   Brain 111 (Pt 1), 27-62 (1988)
   PUBMED   3284607
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB452738.1, BC053642.1 and
            CR627461.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_025219.2.
            
            Summary: This gene is a member of the J protein family. J proteins
            function in many cellular processes by regulating the ATPase
            activity of 70 kDa heat shock proteins. The encoded protein plays a
            role in membrane trafficking and protein folding, and has been
            shown to have anti-neurodegenerative properties. The encoded
            protein is known to play a role in cystic fibrosis and Huntington's
            disease. A pseudogene of this gene is located on the short arm of
            chromosome 8. [provided by RefSeq, Nov 2010].
            
            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 :: BC053642.1, AK289585.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000360864.9/ ENSP00000354111.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-39                DB452738.1         25-63
            40-3280             BC053642.1         1-3241
            3281-5249           CR627461.1         2890-4858
FEATURES             Location/Qualifiers
     source          1..5249
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.33"
     gene            1..5249
                     /gene="DNAJC5"
                     /gene_synonym="CLN4; CLN4B; CSP; DNAJC5A; mir-941-2;
                     mir-941-3; mir-941-4; mir-941-5; NCL"
                     /note="DnaJ heat shock protein family (Hsp40) member C5"
                     /db_xref="GeneID:80331"
                     /db_xref="HGNC:HGNC:16235"
                     /db_xref="MIM:611203"
     exon            1..198
                     /gene="DNAJC5"
                     /gene_synonym="CLN4; CLN4B; CSP; DNAJC5A; mir-941-2;
                     mir-941-3; mir-941-4; mir-941-5; NCL"
                     /inference="alignment:Splign:2.1.0"
     exon            199..316
                     /gene="DNAJC5"
                     /gene_synonym="CLN4; CLN4B; CSP; DNAJC5A; mir-941-2;
                     mir-941-3; mir-941-4; mir-941-5; NCL"
                     /inference="alignment:Splign:2.1.0"
     CDS             210..806
                     /gene="DNAJC5"
                     /gene_synonym="CLN4; CLN4B; CSP; DNAJC5A; mir-941-2;
                     mir-941-3; mir-941-4; mir-941-5; NCL"
                     /note="cysteine string protein alpha;
                     ceroid-lipofuscinosis neuronal protein 4; DnaJ (Hsp40)
                     homolog, subfamily C, member 5"
                     /codon_start=1
                     /product="dnaJ homolog subfamily C member 5"
                     /protein_id="NP_079495.1"
                     /db_xref="CCDS:CCDS13546.1"
                     /db_xref="GeneID:80331"
                     /db_xref="HGNC:HGNC:16235"
                     /db_xref="MIM:611203"
                     /translation="MADQRQRSLSTSGESLYHVLGLDKNATSDDIKKSYRKLALKYHP
                     DKNPDNPEAADKFKEINNAHAILTDATKRNIYDKYGSLGLYVAEQFGEENVNTYFVLS
                     SWWAKALFVFCGLLTCCYCCCCLCCCFNCCCGKCKPKAPEGEETEFYVSPEDLEAQLQ
                     SDEREATDTPIVIQPASATETTQLTADSHPSYHTDGFN"
     exon            317..530
                     /gene="DNAJC5"
                     /gene_synonym="CLN4; CLN4B; CSP; DNAJC5A; mir-941-2;
                     mir-941-3; mir-941-4; mir-941-5; NCL"
                     /inference="alignment:Splign:2.1.0"
     exon            531..702
                     /gene="DNAJC5"
                     /gene_synonym="CLN4; CLN4B; CSP; DNAJC5A; mir-941-2;
                     mir-941-3; mir-941-4; mir-941-5; NCL"
                     /inference="alignment:Splign:2.1.0"
     exon            703..5249
                     /gene="DNAJC5"
                     /gene_synonym="CLN4; CLN4B; CSP; DNAJC5A; mir-941-2;
                     mir-941-3; mir-941-4; mir-941-5; NCL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4509..4514
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAJC5"
                     /gene_synonym="CLN4; CLN4B; CSP; DNAJC5A; mir-941-2;
                     mir-941-3; mir-941-4; mir-941-5; NCL"
                     /note="hexamer: ATTAAA"
     polyA_site      4527
                     /gene="DNAJC5"
                     /gene_synonym="CLN4; CLN4B; CSP; DNAJC5A; mir-941-2;
                     mir-941-3; mir-941-4; mir-941-5; NCL"
                     /note="major polyA site"
     regulatory      5224..5229
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAJC5"
                     /gene_synonym="CLN4; CLN4B; CSP; DNAJC5A; mir-941-2;
                     mir-941-3; mir-941-4; mir-941-5; NCL"
                     /note="hexamer: AATAAA"
     polyA_site      5249
                     /gene="DNAJC5"
                     /gene_synonym="CLN4; CLN4B; CSP; DNAJC5A; mir-941-2;
                     mir-941-3; mir-941-4; mir-941-5; NCL"
                     /note="major polyA site"
ORIGIN      
        1 gcgtgcgtga gcgtgctcgt ctccgctgcc gctgccgctg ccgctgccgg tgccgcaccc
       61 gcgccctctg ccgccgccgc cgccgccgcc cggggtctcc aggctgagga gtgcgtcggc
      121 cgctgcccag cagcgccgcg aatcggggag cggagccgcg gagccggcgg gagggcgggc
      181 gggcgggcgg acgggcagaa tagcctaaca tggcagacca gagacagcgc tcactgtcta
      241 cctctgggga gtcattgtac cacgtccttg ggttggacaa gaacgcaacc tcagatgaca
      301 ttaaaaagtc ctatcggaag cttgccttga aatatcaccc cgacaagaac cccgacaacc
      361 cggaggccgc ggacaagttt aaggagatca acaacgcgca cgccatcctc acggacgcca
      421 caaaaaggaa catctacgac aagtacggct cgctgggtct ctacgtggcc gagcagtttg
      481 gggaagagaa cgtgaacacc tacttcgtgc tgtccagctg gtgggccaag gccctgtttg
      541 tcttctgcgg cctcctcacg tgctgctact gctgctgctg tctgtgctgc tgcttcaact
      601 gctgctgcgg gaagtgtaag cccaaggcgc ctgaaggcga ggagacggag ttctacgtgt
      661 cccccgagga tctggaggca cagctgcagt ctgacgagag ggaggccaca gacacgccga
      721 tcgtcataca gccggcatcc gccaccgaga ccacccagct cacagccgac tcccacccca
      781 gctaccacac tgacgggttc aactaaatcc aggaggagct gtggtcagag gaggagccgg
      841 cgcctggcca cgccaacctt agaatcatga actgtagtca cagagatggg aaggcagcct
      901 cctgcctgcc ctggccttgc tggggcccct cctgcctcca cgcccaccca gcgtcgaccc
      961 ttgacccacg aagtgcgtag catgcagtat ttaaagcagt gtagctacgg tcttctgttt
     1021 ttttcccttt tttaatagca tgtatggggt tctgttccat gtctgtgttg tggacattcc
     1081 gcggcatgac cgcgtgaact gcacggtgga gctgcctcag ggctgtcggt caggttggtc
     1141 cagtgagggg tgactgcagc cggtcaggtg ggcgaggaga aggggggctg cccctttcct
     1201 acctgtgctt gaggggccgg aggcaggtgc tgcctggcag agctgtgtta ccgtcttggc
     1261 ctcggggtct ggtccacact ctgtgctccc agccttgagg ctgcagtagg actctgatct
     1321 cacctgccag aagagaggcg gggccgcgtc ctcctggcgt caccggcgtc actgtcattc
     1381 cttggtgtct gtgctgggca tggttggctt gggggtctgt ggtttcctgg gccttgtggc
     1441 agggtttctc ccgtgggaga atttggtgtg gaaagcatag gaggcccctt ccgaggttga
     1501 caccgtgtcc tccgcggtgt ttctcgcctg gtcgtctcgt cgtgtggacg ctgccgttct
     1561 ggttctcgga ggtgtgtcct tcgccgtgtt ggggttattt gtctgtgttc ctgcactttt
     1621 cccgggctct gagctggatt gatggggcca gtctcccccc tcccatcttg aggtcgttct
     1681 ccacattcct tccagcacac ctgtcctttc catagccctt tttggacctt tagaaccaca
     1741 gatgatagga ccagcccaat gagccacagt cagagagtag attgtgcatg tgtgagcacc
     1801 cagctactgg ggacgggggc tctcccacga cccctcctcc tgtgtttgcc agagctccca
     1861 tctgccccac tcgcctttgc cccgtcatcg atgattcagg cagagccaga ttcgttaggt
     1921 ccctggagga aggactgact ggaccagagg gaccctctgg ctcaggaggg ttgggtccct
     1981 gggaggccgg cagccaggcc acagaatcca cacgtggacc attgtgggtc cctgggaggc
     2041 cggcagccag gccacggaat ccacacgtgg accattgtgg gtcccttggg aggccagcag
     2101 ccagactacg gaatccacat gtggaccatg ggaagtcagt ctcttgcgtg tcctagacct
     2161 tgtgggtggc gccctgcata ggggagcagg gggaacgggt ctgatgtccc tgtgctggct
     2221 gagggctcag agctgcccgc actccgtagc tcatgggatg tgctgggcct gcctttggcg
     2281 ccatgctgca gactccagtg ggcctggttt ctgcagaatg tccatggtgg ccgctgcaga
     2341 gttgcagagg tccctgtaga gataaagctg aggaggaggc tgtgtgtgat ggctctggct
     2401 cggaccaacc agatgagcct cctgaagccc ccttccctgc ctgcctgctg acccgtggcc
     2461 ccagctcact cattgccctc agcagccacc cgaggctgtg cagaagggta ggttcaggtt
     2521 gaccaggaag ctgccaaaag ggacatggat atgaggatac atctggacgt gcttaggaac
     2581 agggtgctgg ttgagggccc ccagctgacc cctactgcag atccgcatgt ggaccatgag
     2641 ccggctgcca gcactaggtc ctgggcagct ttgtttgtcc cacttttctt tgtttcttct
     2701 cactaaaatg atcacgaaga cctttgacaa gaggagagat atgcactgtg atattaaatt
     2761 agaaataatt tatcaaaatc agacctctcc taaaagaata agaaattcat tgtttggccc
     2821 atcctgaaag gtgaggtggc gagacagtgg ggtgcctccg tgccgcttcg tgcagcagca
     2881 agttcagcct gagatgctgg ctgtactcag cctttgcaat ttttgtagat gtagcttagg
     2941 acgtgagtta tttttccgca gactggccaa gagccaggtt ctaagcttgg acctaaggta
     3001 gaaagctgcc catcgggggc cctagctcag ccccaccagg ccctctgttg ggcctgcaca
     3061 cagctctgtg gctagaacac tccaaggccc ttcggtaccc atcagagtgg gccccttgcc
     3121 aggtggcttt tcagttacag agtccagtgg accattttgt agaaccatgc agctccctgc
     3181 ggaaggtggg gtagggtggg aaagaggagc aggtctggag gtttgtggaa cccagtcccc
     3241 tgcagaatct gtaaaaccta ataaatcatg gttgtggcca ttctcacggt ggtgattgtg
     3301 attagacgac ccccgggaag cccagacact cggggcctgg agttcctccc cctgcctgac
     3361 ctagaagcag aaccgttttc agcgctctgc cctgttggct ttaaggcttt gtcttaattt
     3421 aaggaaaaag atcctcccgg gttttatttc tctctttctt gagtggactg tttccctata
     3481 attaaaagag gtggtgagtc ctggggcagc ttccgcgcct ccctgtccac gtgctaacag
     3541 atcaggacgc ccccagcacc cctgcctgct tttgctggtg gcagtgacgg gaccccgact
     3601 cctcactctc gggccgcaga caatgctgtg agcaagtgtg gccatgggca cagaatgtcc
     3661 ctttggacgc cgctgctggg ggctgccagg ggccctctgg ggtcgtgctt tgaggcccgt
     3721 ccggttcacg agggggtccg ggcagcactg actgcttccg acctgcagga ggcgtaggag
     3781 cggccctgcg ggccctttca cggcagctgc tgctgtatag atttgtctcc actcagtgac
     3841 gtgggatttt tttgtcttcc ttttggcttt atttttaaac tgctttagat attactgctc
     3901 agtgtttgtg aactttccta gttctctatg ttgttagtgc agccagcacc cagtggggac
     3961 ctactagaaa aaggaactgg catgcacacg tgcccagcag gaaaagcttc gtcttcacgt
     4021 cggctgctgc catccagaag aggccctgga gcctcacgcc gtcgaggctg ctctcaggcg
     4081 ttctgttccg ggcgaggctt gtgctgcaag gaagggcacc agcatgcagg ctgccactgg
     4141 agggtccggg tgctgcgggc agagttcagc gcttgtccac cctcccttag ctctgactca
     4201 gtgcatccta ctgtggggac atctcgtgag gggacacgaa atgactgatc tcaccctttc
     4261 ccagtattca gagctgtgaa cccctgtggc gcaggactgg cctgtgtctg ttattttggt
     4321 tgtaaatcat tctcctgtgg aattggcaaa agctacattt ttactgtcct taccagcaac
     4381 agtttgcgtc gtcacatgct gtgagtgtgg gctgtggtgt gtccgtgtgt gtacatatgt
     4441 gtatatgtat atatcacgca gcaggagtgt cattcatgct gctgtcccct ggtgaagtga
     4501 caagtacaat taaaggtggc tctgaaatgg cctctggttt cttgggagtc gggcagggac
     4561 ctgcaggagg ctttcccagc aggtgcacag aaggaagcgc tgagcccact gtgtgcagag
     4621 ggtgtgtgcc cagggcactg ccacggcccc caccagcatt ggcctctgct ctgcagggtg
     4681 gggtgcccat cctgggggct gtgtgtcatg ctcacctgac ccaggtgtgt gtcccggtgt
     4741 gaaatcgagg aggggactgg aagcccttcc ctgccttgaa acatgaaagc tgattttctg
     4801 agcagcagat acggtcagtg gcaaagctgc atctgaaggg cggcctggga aggggccctg
     4861 tgctggcccc gggtccgccc cagaggagtc cacacagcac cacctccaga aggggctggg
     4921 cccggggtcc tgcaggcggc accttttggt agagtttgtt tccctggaaa atggggaaaa
     4981 tgtttcaagc caggtgaggg gggaagttaa cactgaaata tgtattgttt ttaaaaatca
     5041 aatgcacacg catggaagct gcttgtccat gcactggttt tgtcactggc gtcctggaat
     5101 ccgaccgtgt tggggtgcag gcgctgtcag actccggctg atcctggctc gagcacacac
     5161 atctaagggc caggctggtt ccgcatggtg atctccgtct tgtatgtctg aatgttggcc
     5221 taaaataaag attactgttg taaaataaa
//
