LOCUS       NM_018163               3721 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens DnaJ heat shock protein family (Hsp40) member C17
            (DNAJC17), mRNA.
ACCESSION   NM_018163
VERSION     NM_018163.3
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 3721)
  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   2  (bases 1 to 3721)
  AUTHORS   Nettore,I.C., Desiderio,S., De Nisco,E., Cacace,V., Albano,L.,
            Improda,N., Ungaro,P., Salerno,M., Colao,A. and Macchia,P.E.
  TITLE     High-resolution melting analysis (HRM) for mutational screening of
            Dnajc17 gene in patients affected by thyroid dysgenesis
  JOURNAL   J Endocrinol Invest 41 (6), 711-717 (2018)
   PUBMED   29159607
  REMARK    GeneRIF: DNAJC17 mutations are not frequently present in patients
            with thyroid dysgenesis.
REFERENCE   3  (bases 1 to 3721)
  AUTHORS   Pascarella,A., Ferrandino,G., Credendino,S.C., Moccia,C.,
            D'Angelo,F., Miranda,B., D'Ambrosio,C., Bielli,P., Spadaro,O.,
            Ceccarelli,M., Scaloni,A., Sette,C., De Felice,M., De Vita,G. and
            Amendola,E.
  TITLE     DNAJC17 is localized in nuclear speckles and interacts with
            splicing machinery components
  JOURNAL   Sci Rep 8 (1), 7794 (2018)
   PUBMED   29773831
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3721)
  AUTHORS   Patel,N., Aldahmesh,M.A., Alkuraya,H., Anazi,S., Alsharif,H.,
            Khan,A.O., Sunker,A., Al-Mohsen,S., Abboud,E.B., Nowilaty,S.R.,
            Alowain,M., Al-Zaidan,H., Al-Saud,B., Alasmari,A.,
            Abdel-Salam,G.M., Abouelhoda,M., Abdulwahab,F.M., Ibrahim,N.,
            Naim,E., Al-Younes,B., E AlMostafa,A., AlIssa,A., Hashem,M.,
            Buzovetsky,O., Xiong,Y., Monies,D., Altassan,N., Shaheen,R.,
            Al-Hazzaa,S.A. and Alkuraya,F.S.
  TITLE     Expanding the clinical, allelic, and locus heterogeneity of retinal
            dystrophies
  JOURNAL   Genet Med 18 (6), 554-562 (2016)
   PUBMED   26355662
  REMARK    GeneRIF: Our study expands the clinical and allelic spectrum of
            known Retinal dystrophies genes, and reveals AGBL5, CDH16, and
            DNAJC17 as novel disease candidates.
REFERENCE   5  (bases 1 to 3721)
  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   6  (bases 1 to 3721)
  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)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA341962.1, AK001496.1, AA834211.1 and AC012476.8.
            
            On Nov 22, 2018 this sequence version replaced NM_018163.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853567.9929.1,
                                           SRR11853563.10984.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000220496.9/ ENSP00000220496.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                DA341962.1         6-21
            17-1009             AK001496.1         1-993
            1010-1013           AA834211.1         26-29               c
            1014-3721           AC012476.8         78509-81216         c
FEATURES             Location/Qualifiers
     source          1..3721
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.1"
     gene            1..3721
                     /gene="DNAJC17"
                     /note="DnaJ heat shock protein family (Hsp40) member C17"
                     /db_xref="GeneID:55192"
                     /db_xref="HGNC:HGNC:25556"
                     /db_xref="MIM:616844"
     exon            1..105
                     /gene="DNAJC17"
                     /inference="alignment:Splign:2.1.0"
     CDS             28..942
                     /gene="DNAJC17"
                     /note="DnaJ (Hsp40) homolog, subfamily C, member 17"
                     /codon_start=1
                     /product="dnaJ homolog subfamily C member 17"
                     /protein_id="NP_060633.1"
                     /db_xref="CCDS:CCDS10065.1"
                     /db_xref="GeneID:55192"
                     /db_xref="HGNC:HGNC:25556"
                     /db_xref="MIM:616844"
                     /translation="MAVTKELLQMDLYALLGIEEKAADKEVKKAYRQKALSCHPDKNP
                     DNPRAAELFHQLSQALEVLTDAAARAAYDKVRKAKKQAAERTQKLDEKRKKVKLDLEA
                     RERQAQAQESEEEEESRSTRTLEQEIERLREEGSRQLEEQQRLIREQIRQERDQRLRG
                     KAENTEGQGTPKLKLKWKCKKEDESKGGYSKDVLLRLLQKYGEVLNLVLSSKKPGTAV
                     VEFATVKAAELAVQNEVGLVDNPLKISWLEGQPQDAVGRSHSGLSKGSVLSERDYESL
                     VMMRMRQAAERQQLIARMQQEDQEGPPT"
     exon            106..175
                     /gene="DNAJC17"
                     /inference="alignment:Splign:2.1.0"
     exon            176..234
                     /gene="DNAJC17"
                     /inference="alignment:Splign:2.1.0"
     exon            235..322
                     /gene="DNAJC17"
                     /inference="alignment:Splign:2.1.0"
     exon            323..408
                     /gene="DNAJC17"
                     /inference="alignment:Splign:2.1.0"
     exon            409..505
                     /gene="DNAJC17"
                     /inference="alignment:Splign:2.1.0"
     exon            506..549
                     /gene="DNAJC17"
                     /inference="alignment:Splign:2.1.0"
     exon            550..627
                     /gene="DNAJC17"
                     /inference="alignment:Splign:2.1.0"
     exon            628..708
                     /gene="DNAJC17"
                     /inference="alignment:Splign:2.1.0"
     exon            709..819
                     /gene="DNAJC17"
                     /inference="alignment:Splign:2.1.0"
     exon            820..3721
                     /gene="DNAJC17"
                     /inference="alignment:Splign:2.1.0"
     regulatory      990..995
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAJC17"
                     /note="hexamer: AATAAA"
     polyA_site      1011
                     /gene="DNAJC17"
                     /note="major polyA site"
     regulatory      3698..3703
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAJC17"
                     /note="hexamer: AATAAA"
     polyA_site      3721
                     /gene="DNAJC17"
                     /note="major polyA site"
ORIGIN      
        1 gtagtacgaa tccgtcaggc cggaaccatg gcagtgacca aggagctctt acagatggac
       61 ctgtacgcgc tgctaggcat tgaggagaag gcagcggaca aagaggtaaa gaaggcgtat
      121 aggcagaagg ccctctcctg ccacccagac aaaaatccag ataatcccag agcagctgaa
      181 ctcttccacc agctttctca ggccttggag gtgctgaccg atgctgcagc cagggctgca
      241 tatgacaagg tcaggaaagc caagaagcaa gcagcagaga ggacccagaa acttgatgag
      301 aaaaggaaga aagtgaagct tgacctggag gcccgggagc ggcaggccca ggcccaggag
      361 agtgaggagg aagaggagag ccggagcacc aggacactag agcaagagat cgaacgcctg
      421 agagaagagg gttcccggca gctggaggaa cagcagaggc tcatccggga gcagatacgc
      481 caggagcgtg accagaggtt gagaggaaag gcagaaaata ctgaaggcca aggaaccccc
      541 aaactaaagc taaaatggaa gtgcaagaag gaggatgagt caaaaggtgg ctactccaaa
      601 gacgtcctcc tacggctttt gcagaagtat ggtgaggttc tcaacctggt gctttccagt
      661 aagaagccag gcactgctgt ggtggagttt gcaaccgtca aggcagcgga gctggctgtc
      721 cagaatgaag ttggcctggt ggataaccct ctgaagattt cctggttgga gggacagccc
      781 caggatgccg tgggccgcag ccactcagga ctgtcaaagg gctcagtgct gtcagagagg
      841 gactacgaga gcctcgtcat gatgcgcatg cgccaggcgg ccgagcggca acagctgatc
      901 gcacggatgc agcaggaaga ccaggagggg ccgcctacgt agccccagct ccagccatcc
      961 acccctcagc ccttttcttc aacgtcacca ataaattttt ttttttttta agattttacc
     1021 tctatcccat acataggtat aaggtgctgg gctctgccgc agagcgctcc acccaggcct
     1081 ggcgcccctc ccaggaagtg ggcagacccc cagggaaacg ctccgcaggg tgagagtccc
     1141 agagtccgtg cacaagcaga gcacaggcgc agccactcat cacagccctt tattggcttg
     1201 ggctagctat gcaggagcca cgcgccaggg ccgctggagt gcccagctcc ggcccggggc
     1261 agctgcccga ggaacatggc ctacacaagg ccctcggccc aggcccgaag caggagggca
     1321 gctgggagca ccagggcacc gggcactgcc ctctcccact gcttgacgca gggtttcaga
     1381 gaaggccatt cactgccctt tggggctggg cccatggcgg tgatgatttg ggaagagagg
     1441 agcaaggcag acggtgaggc aggagcttgg aggtcagggc ccacagcagc ccctccacag
     1501 gggtgccccg tctgcaaatc agcatgagaa ggtcactcct tgtgcagaca ccacaccagc
     1561 gtctggccca cccccgtcat gctcagcaca cggaagcccc tgcgttccag cttgtccagg
     1621 actatgcggg gagggtcatc gacgtagtat tcataactgc aaagagacag gatggggggg
     1681 gtgaggaggg gcacacagca agctcctggt acaaagctag tgtctgcagc aggcagcctg
     1741 gccactcttg tagtgactca cacttgctgg ctgcttgctg ggcgctgggg taagtgcacg
     1801 ccccctgcct cctccccttc taggtacttc acgagctatc tcatttattc ttcccaacaa
     1861 gctagtgaag gtgccactgt tgtggccatt gatagatgag aaaacagagg ggttaatcag
     1921 gttccccagc gtcccagatg gtagaccatg ttagtctgac cacagccctg ctgccgccct
     1981 ccctgggctt gctccccacc caggcttcca ggtaggagga ggctgaggct gcagtgagcc
     2041 atgattgcac caccgcactc cagcctgggc gacagagact ccatttcaaa aaaaaataag
     2101 cctccaggcc cctcactgcc ctggctgtcc tgcagttctg tagcaacaag gctgagcccc
     2161 agtagctcct ggctctgtgc gccactccct agcatggaga gtgctggtag tccttctgtc
     2221 aggtttaatt gatgctgaaa gaccatgaag cagacaaagg gctcaagccc caagctgggc
     2281 atggagaggc aagtgcctca tggcaaaggg agggggctgg cttctgtccc cgagccttga
     2341 cccaggggct gggatcagcc ctcctctttc cccgatttga actggcactc actctgacaa
     2401 ctcttttcag agagcctgtg tagcttgggt tctccctgcc tccaggggtg agaggaggaa
     2461 tggaagcagt agtcacagtt tagacatgga ggcattagga agaatgccaa gggaaatggc
     2521 taggtcccca ggcagcagcc accctggagg taggacgcag gctccctgct ccctgcttct
     2581 agggcttagc tttgcgactc atgcagatcc tcacgacaaa aacctttctc tctgtgcctg
     2641 tctgtccttg atggggtcca gcttaggaga gggcagggca aggaacagtc tgctagtgga
     2701 gtcctagacc cagggaacgg actctgtttc tgcggttcca gtaaggatgt ggaaagcttt
     2761 cagagcaagc ctcgtggggg agagggggga tgttggagag gctacagatg ggaccaactc
     2821 ctccggagaa cagagcccca ggatgcaggc agggggctct gatgctgggc cctgtccctg
     2881 ggcttggagg ttgtataaag ggagcagagg caggtctagg ggctggcagg gagaggatac
     2941 tgagggaggc tgctacttac aagttgtttc ccaaggctct tctctttgaa gcccccagat
     3001 gctgcatcag ctctggatcc gactgttcat cgcccaccat agtggggccc acctcctgca
     3061 aggtaagcca cagtggctgc ttggctggct gccaggagga ggtggaaggt cttgcctgtc
     3121 cttcctcccc tgcctgctag ccctgagtaa ggttcaggta aaggctacag agagtagcaa
     3181 ggattcttag gggctgagca caagctgtga aggggtggag cccatcaatg atcaggagga
     3241 gcaatgtagg cgccctccct agtgccttaa agctcagctt tagccaggca aagtatcacg
     3301 agcctatagt tccagctact gaggctgagg tgggaggatc gcttgaggtg ggaggagttt
     3361 gaggctgcag tgagccatga ttgcaccact gcactccagc ctgggtgaca gagtgagact
     3421 ccatttcaaa aaaacaaaac aaaataaaca tgtaaatgaa agaagccaga ctcagatcac
     3481 attaccacag aaaggtaatt agtggttatc tagggctgag ggacttgggg gaaatcaaga
     3541 gtgtctgcca gtgggtacag ggtttccttt tggggtatta gaaatgttct aaaactgatt
     3601 atggtgatgg ttgcacaact ctgagtacac taaagaaaca acaacactga attgtacact
     3661 ttaaatcaaa gaatttatgg tatgcacatt acatatcaat aaagccatat cttttaagaa
     3721 a
//
