LOCUS       NM_005528               1130 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens DnaJ heat shock protein family (Hsp40) member C4
            (DNAJC4), transcript variant 3, mRNA.
ACCESSION   NM_005528
VERSION     NM_005528.4
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 1130)
  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   2  (bases 1 to 1130)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   3  (bases 1 to 1130)
  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   4  (bases 1 to 1130)
  AUTHORS   Davila,S., Froeling,F.E., Tan,A., Bonnard,C., Boland,G.J.,
            Snippe,H., Hibberd,M.L. and Seielstad,M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 1130)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 1130)
  AUTHORS   Kaltenbach,L.S., Romero,E., Becklin,R.R., Chettier,R., Bell,R.,
            Phansalkar,A., Strand,A., Torcassi,C., Savage,J., Hurlburt,A.,
            Cha,G.H., Ukani,L., Chepanoske,C.L., Zhen,Y., Sahasrabudhe,S.,
            Olson,J., Kurschner,C., Ellerby,L.M., Peltier,J.M., Botas,J. and
            Hughes,R.E.
  TITLE     Huntingtin interacting proteins are genetic modifiers of
            neurodegeneration
  JOURNAL   PLoS Genet 3 (5), e82 (2007)
   PUBMED   17500595
REFERENCE   7  (bases 1 to 1130)
  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   8  (bases 1 to 1130)
  AUTHORS   Silins,G., Grimmond,S. and Hayward,N.
  TITLE     Characterisation of a new human and murine member of the DnaJ
            family of proteins
  JOURNAL   Biochem Biophys Res Commun 243 (1), 273-276 (1998)
   PUBMED   9473517
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC053947.1.
            
            On Aug 11, 2020 this sequence version replaced NM_005528.3.
            
            Transcript Variant: This variant (3) differs in the 5' and 3' UTRs
            and uses alternate splice sites in the 3' coding region, resulting
            in a frameshift and novel 3' coding region compared to variant 1.
            It encodes isoform 3, which is shorter than and has a distinct
            C-terminus compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC057849.1, AF036874.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000628077.3/ ENSP00000486499.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1130              BC053947.1         159-1288
FEATURES             Location/Qualifiers
     source          1..1130
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..1130
                     /gene="DNAJC4"
                     /gene_synonym="DANJC4; HSPF2; MCG18"
                     /note="DnaJ heat shock protein family (Hsp40) member C4"
                     /db_xref="GeneID:3338"
                     /db_xref="HGNC:HGNC:5271"
                     /db_xref="MIM:604189"
     exon            1..393
                     /gene="DNAJC4"
                     /gene_synonym="DANJC4; HSPF2; MCG18"
                     /inference="alignment:Splign:2.1.0"
     CDS             308..1033
                     /gene="DNAJC4"
                     /gene_synonym="DANJC4; HSPF2; MCG18"
                     /note="isoform 3 is encoded by transcript variant 3; heat
                     shock 40kD protein 2; dnaJ homolog subfamily C member 4;
                     dnaJ-like protein HSPF2; multiple endocrine neoplasia type
                     1 candidate protein number 18; DnaJ (Hsp40) homolog,
                     subfamily C, member 4"
                     /codon_start=1
                     /product="dnaJ homolog subfamily C member 4 isoform 3"
                     /protein_id="NP_005519.2"
                     /db_xref="CCDS:CCDS41666.1"
                     /db_xref="GeneID:3338"
                     /db_xref="HGNC:HGNC:5271"
                     /db_xref="MIM:604189"
                     /translation="MPPLLPLRLCRLWPRNPPSRLLGAAAGQRSRPSTYYELLGVHPG
                     ASTEEVKRAFFSKSKELHPDRDPGNPSLHSRFVELSEAYRVLSREQSRRSYDDQLRSG
                     SPPKSPRTTVHDKSAHQTHSSWTPPNAQYWSQFHSVRPQGPQLRQQQHKQNKQVLGYC
                     LLLMLAGMGLHYIAFRKVKQMHLNFMDEKDRIITAFYNEARARARANRGILQQERQRL
                     GQRQPPPSEPTQGPEIVPRGAGP"
     exon            394..487
                     /gene="DNAJC4"
                     /gene_synonym="DANJC4; HSPF2; MCG18"
                     /inference="alignment:Splign:2.1.0"
     exon            488..672
                     /gene="DNAJC4"
                     /gene_synonym="DANJC4; HSPF2; MCG18"
                     /inference="alignment:Splign:2.1.0"
     exon            673..834
                     /gene="DNAJC4"
                     /gene_synonym="DANJC4; HSPF2; MCG18"
                     /inference="alignment:Splign:2.1.0"
     exon            835..921
                     /gene="DNAJC4"
                     /gene_synonym="DANJC4; HSPF2; MCG18"
                     /inference="alignment:Splign:2.1.0"
     exon            922..1130
                     /gene="DNAJC4"
                     /gene_synonym="DANJC4; HSPF2; MCG18"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1113..1118
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAJC4"
                     /gene_synonym="DANJC4; HSPF2; MCG18"
                     /note="hexamer: AATAAA"
     polyA_site      1130
                     /gene="DNAJC4"
                     /gene_synonym="DANJC4; HSPF2; MCG18"
                     /note="major polyA site"
ORIGIN      
        1 ccctccttct cccgtcccca agttccctgg gtgggaacgg ggtcttgggg tccctggctg
       61 ggtggccaga ccccgaagcc agcgctggga agggctgcgg atgcccgggt cagaggaagg
      121 ggcaggtcca aggacacgcg ggtctggtcc tgggcaagaa ccgccccctc tccgggcctg
      181 cttcagtctt cctttgcaga acaacgggcc aggccccttc cctctgcccc cgggtgcttg
      241 aagtctagcc ccatcctggt ccaatgcgct cttggtagcc tcctttccca gctgcccgcc
      301 cgccgccatg ccgcccttac tgcccctgcg cctgtgccgg ctgtggcccc gcaaccctcc
      361 ctcccggctc ctcggagcgg ccgccgggca gcggtccaga cccagtactt attatgaact
      421 gttgggggtg catcctggtg ccagcactga ggaagttaaa cgagctttct tctccaagtc
      481 caaagagctg cacccagacc gggaccctgg gaacccaagc ctgcacagcc gctttgtgga
      541 gctgagcgag gcataccgtg tgctcagccg tgagcagagc cgccgcagct atgatgacca
      601 gctccgctca ggtagtcccc caaagtctcc acgaaccaca gtccatgaca agtctgccca
      661 ccaaacacac agctcctgga caccccccaa cgcacagtac tggtcccagt ttcacagcgt
      721 gaggccacag gggccccagt tgaggcagca gcaacacaaa caaaacaaac aagtgctggg
      781 gtactgcctc ctcctcatgc tggcgggcat gggcctgcac tacattgcct tcaggaaggt
      841 gaagcagatg caccttaact tcatggatga aaaggatcgg atcatcacag ccttctacaa
      901 cgaagcccgg gcacgggcca gggccaacag aggcatcctt cagcaggagc gacaacggct
      961 agggcagcgg cagccgccac catccgagcc aacccaaggc cccgagatcg tgccccgggg
     1021 cgccggcccc tgaggggctc acctggatgg ggcctgcagt gcgttcccgc tttgcttcct
     1081 tccctggacg gcccgctccc cgaaacgcgc gcaataaagt gattcgcaga
//
