LOCUS       NM_021800               1221 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens DnaJ heat shock protein family (Hsp40) member C12
            (DNAJC12), transcript variant 1, mRNA.
ACCESSION   NM_021800
VERSION     NM_021800.3
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 1221)
  AUTHORS   Shen,M., Cao,S., Long,X., Xiao,L., Yang,L., Zhang,P., Li,L.,
            Chen,F., Lei,T., Gao,H., Ye,F. and Bu,H.
  TITLE     DNAJC12 causes breast cancer chemotherapy resistance by repressing
            doxorubicin-induced ferroptosis and apoptosis via activation of AKT
  JOURNAL   Redox Biol 70, 103035 (2024)
   PUBMED   38306757
  REMARK    GeneRIF: DNAJC12 causes breast cancer chemotherapy resistance by
            repressing doxorubicin-induced ferroptosis and apoptosis via
            activation of AKT.
REFERENCE   2  (bases 1 to 1221)
  AUTHORS   Deng,I.B., Follett,J., Bu,M. and Farrer,M.J.
  TITLE     DNAJC12 in Monoamine Metabolism, Neurodevelopment, and
            Neurodegeneration
  JOURNAL   Mov Disord 39 (2), 249-258 (2024)
   PUBMED   38014588
  REMARK    GeneRIF: DNAJC12 in Monoamine Metabolism, Neurodevelopment, and
            Neurodegeneration.
            Review article
REFERENCE   3  (bases 1 to 1221)
  AUTHORS   Gunes,D. and Senturk,L.
  TITLE     A rare cause of hyperphenylalaninemia: four cases from a single
            family with DNAJC12 deficiency
  JOURNAL   J Pediatr Endocrinol Metab 36 (8), 791-797 (2023)
   PUBMED   37283250
  REMARK    GeneRIF: A rare cause of hyperphenylalaninemia: four cases from a
            single family with DNAJC12 deficiency.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1221)
  AUTHORS   Porta,F., Neirotti,A. and Spada,M.
  TITLE     Restless legs syndrome in DNAJC12 deficiency
  JOURNAL   Neurol Sci 44 (6), 2167-2172 (2023)
   PUBMED   36897462
  REMARK    GeneRIF: Restless legs syndrome in DNAJC12 deficiency.
REFERENCE   5  (bases 1 to 1221)
  AUTHORS   Ciki,K., Yildiz,Y., Yucel Yilmaz,D., Pektas,E., Tokatli,A.,
            Ozgul,R.K., Sivri,H.S. and Dursun,A.
  TITLE     DNACJ12 deficiency in patients with unexplained
            hyperphenylalaninemia: two new patients and a novel variant
  JOURNAL   Metab Brain Dis 36 (6), 1405-1410 (2021)
   PUBMED   34014443
  REMARK    GeneRIF: DNACJ12 deficiency in patients with unexplained
            hyperphenylalaninemia: two new patients and a novel variant.
            Erratum:[Metab Brain Dis. 2021 Aug;36(6):1411. doi:
            10.1007/s11011-021-00759-8.. PMID: 34106389]
REFERENCE   6  (bases 1 to 1221)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   7  (bases 1 to 1221)
  AUTHORS   De Bessa,S.A., Salaorni,S., Patrao,D.F., Neto,M.M., Brentani,M.M.
            and Nagai,M.A.
  TITLE     JDP1 (DNAJC12/Hsp40) expression in breast cancer and its
            association with estrogen receptor status
  JOURNAL   Int J Mol Med 17 (2), 363-367 (2006)
   PUBMED   16391838
  REMARK    GeneRIF: JDP1 is a estrogen target gene and that its expression
            might be used as a marker of the estrogen transactivation activity
REFERENCE   8  (bases 1 to 1221)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 1221)
  AUTHORS   Deloukas,P., Earthrowl,M.E., Grafham,D.V., Rubenfield,M.,
            French,L., Steward,C.A., Sims,S.K., Jones,M.C., Searle,S.,
            Scott,C., Howe,K., Hunt,S.E., Andrews,T.D., Gilbert,J.G.,
            Swarbreck,D., Ashurst,J.L., Taylor,A., Battles,J., Bird,C.P.,
            Ainscough,R., Almeida,J.P., Ashwell,R.I., Ambrose,K.D.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Bates,K.,
            Beasley,H., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.C.,
            Burrill,W., Burton,J., Cahill,P., Camire,D., Carter,N.P.,
            Chapman,J.C., Clark,S.Y., Clarke,G., Clee,C.M., Clegg,S., Corby,N.,
            Coulson,A., Dhami,P., Dutta,I., Dunn,M., Faulkner,L., Frankish,A.,
            Frankland,J.A., Garner,P., Garnett,J., Gribble,S., Griffiths,C.,
            Grocock,R., Gustafson,E., Hammond,S., Harley,J.L., Hart,E.,
            Heath,P.D., Ho,T.P., Hopkins,B., Horne,J., Howden,P.J., Huckle,E.,
            Hynds,C., Johnson,C., Johnson,D., Kana,A., Kay,M., Kimberley,A.M.,
            Kershaw,J.K., Kokkinaki,M., Laird,G.K., Lawlor,S., Lee,H.M.,
            Leongamornlert,D.A., Laird,G., Lloyd,C., Lloyd,D.M., Loveland,J.,
            Lovell,J., McLaren,S., McLay,K.E., McMurray,A.,
            Mashreghi-Mohammadi,M., Matthews,L., Milne,S., Nickerson,T.,
            Nguyen,M., Overton-Larty,E., Palmer,S.A., Pearce,A.V., Peck,A.I.,
            Pelan,S., Phillimore,B., Porter,K., Rice,C.M., Rogosin,A.,
            Ross,M.T., Sarafidou,T., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Standring,L., Sycamore,N., Tester,J., Thorpe,A.,
            Torcasso,W., Tracey,A., Tromans,A., Tsolas,J., Wall,M., Walsh,J.,
            Wang,H., Weinstock,K., West,A.P., Willey,D.L., Whitehead,S.L.,
            Wilming,L., Wray,P.W., Young,L., Chen,Y., Lovering,R.C.,
            Moschonas,N.K., Siebert,R., Fechtel,K., Bentley,D., Durbin,R.,
            Hubbard,T., Doucette-Stamm,L., Beck,S., Smith,D.R. and Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
REFERENCE   10 (bases 1 to 1221)
  AUTHORS   Lee,J., Hahn,Y., Yun,J.H., Mita,K. and Chung,J.H.
  TITLE     Characterization of JDP genes, an evolutionarily conserved J
            domain-only protein family, from human and moths
  JOURNAL   Biochim Biophys Acta 1491 (1-3), 355-363 (2000)
   PUBMED   10760603
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133551.13, CB121724.1 and
            AF176012.1.
            
            On Nov 22, 2018 this sequence version replaced NM_021800.2.
            
            Summary: This gene encodes a member of a subclass of the HSP40/DnaJ
            protein family. Members of this family of proteins are associated
            with complex assembly, protein folding, and export. Two transcript
            variants encoding distinct isoforms have been identified for this
            gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript, 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 :: SRR5189652.130065.1,
                                           SRR1803612.41108.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267761 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000225171.7/ ENSP00000225171.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 AL133551.13        86032-86040         c
            10-255              CB121724.1         3-248
            256-1221            AF176012.1         232-1197
FEATURES             Location/Qualifiers
     source          1..1221
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q21.3"
     gene            1..1221
                     /gene="DNAJC12"
                     /gene_synonym="HPANBH4; JDP1"
                     /note="DnaJ heat shock protein family (Hsp40) member C12"
                     /db_xref="GeneID:56521"
                     /db_xref="HGNC:HGNC:28908"
                     /db_xref="MIM:606060"
     exon            1..255
                     /gene="DNAJC12"
                     /gene_synonym="HPANBH4; JDP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             178..774
                     /gene="DNAJC12"
                     /gene_synonym="HPANBH4; JDP1"
                     /note="isoform a is encoded by transcript variant 1; J
                     domain protein 1; dnaJ homolog subfamily C member 12; J
                     domain containing protein 1 (JDP1); j domain-containing
                     protein 1; DnaJ (Hsp40) homolog, subfamily C, member 12"
                     /codon_start=1
                     /product="dnaJ homolog subfamily C member 12 isoform a"
                     /protein_id="NP_068572.1"
                     /db_xref="CCDS:CCDS7271.1"
                     /db_xref="GeneID:56521"
                     /db_xref="HGNC:HGNC:28908"
                     /db_xref="MIM:606060"
                     /translation="MDAILNYRSEDTEDYYTLLGCDELSSVEQILAEFKVRALECHPD
                     KHPENPKAVETFQKLQKAKEILTNEESRARYDHWRRSQMSMPFQQWEALNDSVKTSMH
                     WVVRGKKDLMLEESDKTHTTKMENEECNEQRERKKEELASTAEKTEQKEPKPLEKSVS
                     PQNSDSSGFADVNGWHLRFRWSKDAPSELLRKFRNYEI"
     exon            256..334
                     /gene="DNAJC12"
                     /gene_synonym="HPANBH4; JDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            335..474
                     /gene="DNAJC12"
                     /gene_synonym="HPANBH4; JDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            475..679
                     /gene="DNAJC12"
                     /gene_synonym="HPANBH4; JDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            680..1221
                     /gene="DNAJC12"
                     /gene_synonym="HPANBH4; JDP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1198..1203
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAJC12"
                     /gene_synonym="HPANBH4; JDP1"
                     /note="hexamer: AATAAA"
     polyA_site      1221
                     /gene="DNAJC12"
                     /gene_synonym="HPANBH4; JDP1"
                     /note="major polyA site"
ORIGIN      
        1 agagtttaca aaggtctagg atgacatctg gtgtattgac tgtggccagt cttaaagcta
       61 gtttttgcta tgtggaacat gctgctctaa ttcagattta aagagtttct tcctgttaat
      121 tcgaagctca ctgtgcctct tgtttccgag ggaagaagga ctgattaagt catctaaatg
      181 gatgcaatac tgaattacag gtcagaagat actgaagatt actacacatt actgggatgt
      241 gatgaactat cttcggttga acaaatcctg gcagaattta aagtcagagc tctggaatgt
      301 cacccagaca agcatcctga aaaccccaaa gctgtggaga cttttcagaa actgcagaag
      361 gcaaaggaga ttctgaccaa tgaagagagt cgagcccgct atgaccactg gcgaaggagc
      421 cagatgtcga tgccattcca gcagtgggaa gctttgaatg actcagtgaa gacgtcaatg
      481 cactgggttg tcagaggtaa aaaagacctg atgctggaag aatctgacaa gactcatacc
      541 accaagatgg aaaatgagga atgtaatgag caaagagaaa gaaagaaaga ggagctggct
      601 tcaaccgcag agaaaacgga gcagaaagaa cccaagcccc tagagaagtc agtctccccg
      661 caaaattcag attcttcagg ttttgcagat gtgaatggtt ggcaccttcg tttccgctgg
      721 tccaaggatg ctccctcaga actcctgagg aagttcagaa actatgaaat atgaaatatc
      781 tctgcttcaa aaaatgagga agagcaagac tgtcccctat gctgccaaca tgcagtcttt
      841 gtttatgtct taaaaatgtc atgtttatgt catgtctgtg aattgctgag tactaattga
      901 ttcctccatc cttgaatcag ttctcataat gctttttaaa taagaaaaat tcagaagatg
      961 aatttcttcc aatatttgaa taaattaaag ctcttagata cagagtagat tgtattatat
     1021 gctttttcct attaatacta cttatagaaa tccattaaaa agcaatctct gtacagtgta
     1081 tttaaatatt tcattgacat actgtgatct ctattagtga tggatgtaca aaaaatgttt
     1141 tcttaccctt gacttacaat gaaatgtgaa attacttgtc tgaaccccgt ggggagaaat
     1201 aaataatttt cccaaagttc a
//
