LOCUS       NM_058246               2489 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens DnaJ heat shock protein family (Hsp40) member B6
            (DNAJB6), transcript variant 1, mRNA.
ACCESSION   NM_058246
VERSION     NM_058246.4
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 2489)
  AUTHORS   Li,Y., Yu,B., Li,H., Hou,W., Yin,J., Zhou,Y. and Yu,Z.
  TITLE     Human milk exosome-derived circDNAJB6 improves bronchopulmonary
            dysplasia model by promoting DNAJB6 gene transcription
  JOURNAL   J Bioenerg Biomembr 56 (2), 171-180 (2024)
   PUBMED   38244155
  REMARK    GeneRIF: Human milk exosome-derived circDNAJB6 improves
            bronchopulmonary dysplasia model by promoting DNAJB6 gene
            transcription.
REFERENCE   2  (bases 1 to 2489)
  AUTHORS   Chang,Y.L., Yang,C.C., Huang,Y.Y., Chen,Y.A., Yang,C.W., Liao,C.Y.,
            Li,H., Wu,C.S., Lin,C.H. and Teng,S.C.
  TITLE     The HSP40 family chaperone isoform DNAJB6b prevents neuronal cells
            from tau aggregation
  JOURNAL   BMC Biol 21 (1), 293 (2023)
   PUBMED   38110916
  REMARK    GeneRIF: The HSP40 family chaperone isoform DNAJB6b prevents
            neuronal cells from tau aggregation.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2489)
  AUTHORS   Osterlund,N., Frankel,R., Carlsson,A., Thacker,D., Karlsson,M.,
            Matus,V., Graslund,A., Emanuelsson,C. and Linse,S.
  TITLE     The C-terminal domain of the antiamyloid chaperone DNAJB6 binds to
            amyloid-beta peptide fibrils and inhibits secondary nucleation
  JOURNAL   J Biol Chem 299 (11), 105317 (2023)
   PUBMED   37797698
  REMARK    GeneRIF: The C-terminal domain of the antiamyloid chaperone DNAJB6
            binds to amyloid-beta peptide fibrils and inhibits secondary
            nucleation.
REFERENCE   4  (bases 1 to 2489)
  AUTHORS   Terriaca,S., Scioli,M.G., Pisano,C., Ruvolo,G., Ferlosio,A. and
            Orlandi,A.
  TITLE     miR-632 Induces DNAJB6 Inhibition Stimulating
            Endothelial-to-Mesenchymal Transition and Fibrosis in Marfan
            Syndrome Aortopathy
  JOURNAL   Int J Mol Sci 24 (20), 15133 (2023)
   PUBMED   37894814
  REMARK    GeneRIF: miR-632 Induces DNAJB6 Inhibition Stimulating
            Endothelial-to-Mesenchymal Transition and Fibrosis in Marfan
            Syndrome Aortopathy.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2489)
  AUTHORS   Izawa,I., Nishizawa,M., Ohtakara,K., Ohtsuka,K., Inada,H. and
            Inagaki,M.
  TITLE     Identification of Mrj, a DnaJ/Hsp40 family protein, as a keratin
            8/18 filament regulatory protein
  JOURNAL   J Biol Chem 275 (44), 34521-34527 (2000)
   PUBMED   10954706
REFERENCE   6  (bases 1 to 2489)
  AUTHORS   Ohtsuka,K. and Hata,M.
  TITLE     Mammalian HSP40/DNAJ homologs: cloning of novel cDNAs and a
            proposal for their classification and nomenclature
  JOURNAL   Cell Stress Chaperones 5 (2), 98-112 (2000)
   PUBMED   11147971
REFERENCE   7  (bases 1 to 2489)
  AUTHORS   Speer,M.C., Vance,J.M., Grubber,J.M., Lennon Graham,F.,
            Stajich,J.M., Viles,K.D., Rogala,A., McMichael,R., Chutkow,J.,
            Goldsmith,C., Tim,R.W. and Pericak-Vance,M.A.
  TITLE     Identification of a new autosomal dominant limb-girdle muscular
            dystrophy locus on chromosome 7
  JOURNAL   Am J Hum Genet 64 (2), 556-562 (1999)
   PUBMED   9973293
REFERENCE   8  (bases 1 to 2489)
  AUTHORS   Seki,N., Hattori,A., Hayashi,A., Kozuma,S., Miyajima,N. and
            Saito,T.
  TITLE     Cloning, tissue expression, and chromosomal assignment of human MRJ
            gene for a member of the DNAJ protein family
  JOURNAL   J Hum Genet 44 (3), 185-189 (1999)
   PUBMED   10319584
REFERENCE   9  (bases 1 to 2489)
  AUTHORS   Selcen,D. and Engel,A.G.
  TITLE     Myofibrillar Myopathy - 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   20301672
REFERENCE   10 (bases 1 to 2489)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - 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   20301582
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079306.7 and AC006372.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 25, 2018 this sequence version replaced NM_058246.3.
            
            Summary: This gene encodes a member of the DNAJ protein family.
            DNAJ family members are characterized by a highly conserved amino
            acid stretch called the 'J-domain' and function as one of the two
            major classes of molecular chaperones involved in a wide range of
            cellular events, such as protein folding and oligomeric protein
            complex assembly. This family member may also play a role in
            polyglutamine aggregation in specific neurons. Alternative splicing
            of this gene results in multiple transcript variants; however, not
            all variants have been fully described. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript variant and encodes the longer isoform (a).
            
            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 :: AK223601.1, SRR3476690.372975.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000262177.9/ ENSP00000262177.4
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-141               AC079306.7         18952-19092
            142-232             AC079306.7         40495-40585
            233-342             AC079306.7         45109-45218
            343-402             AC079306.7         48450-48509
            403-513             AC079306.7         49321-49431
            514-645             AC079306.7         64194-64325
            646-787             AC079306.7         66815-66956
            788-858             AC079306.7         67489-67559
            859-1065            AC006372.2         21514-21720
            1066-2489           AC006372.2         27735-29158
FEATURES             Location/Qualifiers
     source          1..2489
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.3"
     gene            1..2489
                     /gene="DNAJB6"
                     /gene_synonym="DJ4; DnaJ; HHDJ1; HSJ-2; HSJ2; LGMD1D;
                     LGMD1E; LGMDD1; MRJ; MSJ-1"
                     /note="DnaJ heat shock protein family (Hsp40) member B6"
                     /db_xref="GeneID:10049"
                     /db_xref="HGNC:HGNC:14888"
                     /db_xref="MIM:611332"
     exon            1..141
                     /gene="DNAJB6"
                     /gene_synonym="DJ4; DnaJ; HHDJ1; HSJ-2; HSJ2; LGMD1D;
                     LGMD1E; LGMDD1; MRJ; MSJ-1"
                     /inference="alignment:Splign:2.1.0"
     exon            142..232
                     /gene="DNAJB6"
                     /gene_synonym="DJ4; DnaJ; HHDJ1; HSJ-2; HSJ2; LGMD1D;
                     LGMD1E; LGMDD1; MRJ; MSJ-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             168..1148
                     /gene="DNAJB6"
                     /gene_synonym="DJ4; DnaJ; HHDJ1; HSJ-2; HSJ2; LGMD1D;
                     LGMD1E; LGMDD1; MRJ; MSJ-1"
                     /note="isoform a is encoded by transcript variant 1; heat
                     shock protein J2; dnaJ homolog subfamily B member 6;
                     DnaJ-like 2 protein; DnaJ (Hsp40) homolog, subfamily B,
                     member 6"
                     /codon_start=1
                     /product="dnaJ homolog subfamily B member 6 isoform a"
                     /protein_id="NP_490647.1"
                     /db_xref="CCDS:CCDS5946.1"
                     /db_xref="GeneID:10049"
                     /db_xref="HGNC:HGNC:14888"
                     /db_xref="MIM:611332"
                     /translation="MVDYYEVLGVQRHASPEDIKKAYRKLALKWHPDKNPENKEEAER
                     KFKQVAEAYEVLSDAKKRDIYDKYGKEGLNGGGGGGSHFDSPFEFGFTFRNPDDVFRE
                     FFGGRDPFSFDFFEDPFEDFFGNRRGPRGSRSRGTGSFFSAFSGFPSFGSGFSSFDTG
                     FTSFGSLGHGGLTSFSSTSFGGSGMGNFKSISTSTKMVNGRKITTKRIVENGQERVEV
                     EEDGQLKSLTINGVADDDALAEERMRRGQNALPAQPAGLRPPKPPRPASLLRHAPHCL
                     SEEEGEQDRPRAPGPWDPLASAAGLKEGGKRKKQKQREESKKKKSTKGNH"
     exon            233..342
                     /gene="DNAJB6"
                     /gene_synonym="DJ4; DnaJ; HHDJ1; HSJ-2; HSJ2; LGMD1D;
                     LGMD1E; LGMDD1; MRJ; MSJ-1"
                     /inference="alignment:Splign:2.1.0"
     exon            343..402
                     /gene="DNAJB6"
                     /gene_synonym="DJ4; DnaJ; HHDJ1; HSJ-2; HSJ2; LGMD1D;
                     LGMD1E; LGMDD1; MRJ; MSJ-1"
                     /inference="alignment:Splign:2.1.0"
     exon            403..513
                     /gene="DNAJB6"
                     /gene_synonym="DJ4; DnaJ; HHDJ1; HSJ-2; HSJ2; LGMD1D;
                     LGMD1E; LGMDD1; MRJ; MSJ-1"
                     /inference="alignment:Splign:2.1.0"
     exon            514..645
                     /gene="DNAJB6"
                     /gene_synonym="DJ4; DnaJ; HHDJ1; HSJ-2; HSJ2; LGMD1D;
                     LGMD1E; LGMDD1; MRJ; MSJ-1"
                     /inference="alignment:Splign:2.1.0"
     exon            646..787
                     /gene="DNAJB6"
                     /gene_synonym="DJ4; DnaJ; HHDJ1; HSJ-2; HSJ2; LGMD1D;
                     LGMD1E; LGMDD1; MRJ; MSJ-1"
                     /inference="alignment:Splign:2.1.0"
     exon            788..858
                     /gene="DNAJB6"
                     /gene_synonym="DJ4; DnaJ; HHDJ1; HSJ-2; HSJ2; LGMD1D;
                     LGMD1E; LGMDD1; MRJ; MSJ-1"
                     /inference="alignment:Splign:2.1.0"
     exon            859..1065
                     /gene="DNAJB6"
                     /gene_synonym="DJ4; DnaJ; HHDJ1; HSJ-2; HSJ2; LGMD1D;
                     LGMD1E; LGMDD1; MRJ; MSJ-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1066..2489
                     /gene="DNAJB6"
                     /gene_synonym="DJ4; DnaJ; HHDJ1; HSJ-2; HSJ2; LGMD1D;
                     LGMD1E; LGMDD1; MRJ; MSJ-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2464..2469
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAJB6"
                     /gene_synonym="DJ4; DnaJ; HHDJ1; HSJ-2; HSJ2; LGMD1D;
                     LGMD1E; LGMDD1; MRJ; MSJ-1"
                     /note="hexamer: AATAAA"
     polyA_site      2489
                     /gene="DNAJB6"
                     /gene_synonym="DJ4; DnaJ; HHDJ1; HSJ-2; HSJ2; LGMD1D;
                     LGMD1E; LGMDD1; MRJ; MSJ-1"
                     /note="major polyA site"
ORIGIN      
        1 ctgtttgttg ttggagaaag gagagaaagg aaagcgcgag gagccgccgc caccaccagc
       61 gcagcagtcc tggagctgtg aggagattcg ggccgtcacc ctgcctcccc tgcgtcccgc
      121 caccggccgc ttctgtcctc ggacccattc caacaatctc gtaaaacatg gtggattact
      181 atgaagttct aggcgtgcag agacatgcct cacccgagga tattaaaaag gcatatcgga
      241 aactggcact gaagtggcat ccagataaaa atcctgagaa taaagaagaa gcagagagaa
      301 aattcaagca agtagcggag gcatatgaag tgctgtcgga tgctaagaaa cgggacatct
      361 atgacaaata tggcaaagaa ggattaaatg gtggaggagg aggtggaagt cattttgaca
      421 gtccatttga atttggcttc acattccgta acccagatga tgtcttcagg gaattttttg
      481 gtggaaggga cccattttca tttgacttct ttgaagaccc ttttgaggac ttctttggga
      541 atcgaagggg tccccgagga agcagaagcc gagggacggg gtcgtttttc tctgcgttca
      601 gtggatttcc gtcttttgga agtggatttt cttcttttga tacaggattt acttcatttg
      661 ggtcactagg tcacgggggc ctcacttcat tctcttccac gtcatttggt ggtagtggca
      721 tgggcaactt caaatcgata tcaacttcaa ctaaaatggt taatggcaga aaaatcacta
      781 caaagagaat tgtcgagaac ggtcaagaaa gagtagaagt tgaagaagat ggccagttaa
      841 agtccttaac aataaatggt gtggccgacg acgatgccct cgctgaggag cgcatgcgga
      901 gaggccagaa cgccctgcca gcccagcctg ccggcctccg cccgccgaag ccgccccggc
      961 ctgcctcgct gctgagacac gcgcctcact gtctctctga ggaggagggc gagcaggacc
     1021 gacctcgggc acccgggccc tgggaccccc tcgcgtccgc agcaggattg aaagaaggtg
     1081 gcaagaggaa gaagcagaag cagagagagg agtcgaagaa gaagaagtcg accaaaggca
     1141 atcactagac cggacttgag gcacgcggtg cacccccaga cgctggcgct ccaccgtgct
     1201 cggcatgcgg tcgtgcacac gcgctaggta gcagcgtcgg tcaggactgt ctcgaggcca
     1261 cactcgctcg gcaggattat gcgatcacgg atcagtcaga gcagggtcag gagacggggc
     1321 tgacggcacg ggtggcgggg acagacgttt gggacttggc cgcgactctc tgcttctctc
     1381 cagctctcaa tctgctgcat tttcctctag tgcttccgga tcctcttcat tcttttcggc
     1441 tactcaacca ctccgcatgc tgctggaata tttctggctt tagaagtaca ggagggcgca
     1501 gatggctaac tgagtaacat tcatgaaatg aggctttctg tggcggcgta gtgtttggaa
     1561 ttagaaggta attcagtaga gtgtaactta gagaatattg caagtgacac attgaatcct
     1621 gcccgtcagg gcaccttttc ctcagagcaa tccggccaca cgaatagaag gctgtcgtga
     1681 atcacatcag atgtaaaatc attccttctg tttactcttt taattttcat cctttgcagg
     1741 tagtgcaaat tcaacttcaa atatggtgta ggttttgcta gattccatat ttttttcttg
     1801 gatttttgct aattattttt agcaaaaaat ttttgctcag tggcactctc cctagtgtcc
     1861 atgggttagg gccatgctgg ggaaaacggg ccggtattta cacacgcgca aaacacccag
     1921 agacggcaca aggaggttga actcatgttt cagttcgcga acattgactc cttacgaaag
     1981 tcacttcatt ctaactagat gcgcccactt ccggtcatta tttcgtttgc atgatgtatt
     2041 gcttcttcac gttttgtttt tattgagcac ggagtagaat tccagggctg ccttgacttc
     2101 ttccctgcat gctccctccc agtgactttc cttccctttc acatgaggat ctgccgttca
     2161 tgttgctttc tcctttgtcc tcttggactt gagggcattg tgaaaagctt tgctgtgatt
     2221 taaaaatgcc agcaatttta atctagcagt gttgaagctg ggaatttttt ggcgcaatcc
     2281 atgtagcagt gacccaggct tgggagccag aaacaagtgt gacctgggat tttatttaac
     2341 acaactgttg ccaaagagtt ggctttgttt atttggtttt ggcggggaga ggagtggtat
     2401 ttgatgcttt ctgtggacaa tgtaacccta aacacatcat gtattttaaa tgccacctac
     2461 ataaataaaa cataagcata ttgaataca
//
