LOCUS       NM_003315               1806 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens DnaJ heat shock protein family (Hsp40) member C7
            (DNAJC7), transcript variant 1, mRNA.
ACCESSION   NM_003315
VERSION     NM_003315.4
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 1806)
  AUTHORS   Wang,S., Zheng,X., Wei,Q., Lin,J., Yang,T., Xiao,Y., Jiang,Q.,
            Li,C. and Shang,H.
  TITLE     Rare DNAJC7 Variants May Play a Minor Role in Chinese Patients with
            ALS
  JOURNAL   Mol Neurobiol 61 (4), 2265-2269 (2024)
   PUBMED   37870677
  REMARK    GeneRIF: Rare DNAJC7 Variants May Play a Minor Role in Chinese
            Patients with ALS.
REFERENCE   2  (bases 1 to 1806)
  AUTHORS   Tohnai,G., Nakamura,R., Atsuta,N., Nakatochi,M., Hayashi,N.,
            Ito,D., Watanabe,H., Watanabe,H., Katsuno,M., Izumi,Y.,
            Taniguchi,A., Kanai,K., Morita,M., Kano,O., Kuwabara,S., Oda,M.,
            Abe,K., Aoki,M., Aiba,I., Okamoto,K., Mizoguchi,K., Ishihara,T.,
            Kawata,A., Yokota,T., Hasegawa,K., Nagano,I., Yabe,I., Tanaka,F.,
            Kuru,S., Hattori,N., Nakashima,K., Kaji,R. and Sobue,G.
  CONSRTM   Japanese Consortium for Amyotrophic Lateral Sclerosis Research
            (JaCALS)
  TITLE     Mutation screening of the DNAJC7 gene in Japanese patients with
            sporadic amyotrophic lateral sclerosis
  JOURNAL   Neurobiol Aging 113, 131-136 (2022)
   PUBMED   35039179
  REMARK    GeneRIF: Mutation screening of the DNAJC7 gene in Japanese patients
            with sporadic amyotrophic lateral sclerosis.
REFERENCE   3  (bases 1 to 1806)
  AUTHORS   Dilliott,A.A., Andary,C.M., Stoltz,M., Petropavlovskiy,A.A.,
            Farhan,S.M.K. and Duennwald,M.L.
  TITLE     DnaJC7 in Amyotrophic Lateral Sclerosis
  JOURNAL   Int J Mol Sci 23 (8), 4076 (2022)
   PUBMED   35456894
  REMARK    GeneRIF: DnaJC7 in Amyotrophic Lateral Sclerosis.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1806)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   5  (bases 1 to 1806)
  AUTHORS   Moffatt,N.S., Bruinsma,E., Uhl,C., Obermann,W.M. and Toft,D.
  TITLE     Role of the cochaperone Tpr2 in Hsp90 chaperoning
  JOURNAL   Biochemistry 47 (31), 8203-8213 (2008)
   PUBMED   18620420
  REMARK    GeneRIF: Data show that Tpr2 associates with Hsp90 and Hsp70
            complexes, promoted the accumulation of Hsp70 in PR heterocomplexes
            in the presence of Hsp90. Thus, Tpr2 has the potential to regulate
            PR chaperoning.
REFERENCE   6  (bases 1 to 1806)
  AUTHORS   Camargo,L.M., Collura,V., Rain,J.C., Mizuguchi,K., Hermjakob,H.,
            Kerrien,S., Bonnert,T.P., Whiting,P.J. and Brandon,N.J.
  TITLE     Disrupted in Schizophrenia 1 Interactome: evidence for the close
            connectivity of risk genes and a potential synaptic basis for
            schizophrenia
  JOURNAL   Mol Psychiatry 12 (1), 74-86 (2007)
   PUBMED   17043677
REFERENCE   7  (bases 1 to 1806)
  AUTHORS   Rush,J., Moritz,A., Lee,K.A., Guo,A., Goss,V.L., Spek,E.J.,
            Zhang,H., Zha,X.M., Polakiewicz,R.D. and Comb,M.J.
  TITLE     Immunoaffinity profiling of tyrosine phosphorylation in cancer
            cells
  JOURNAL   Nat Biotechnol 23 (1), 94-101 (2005)
   PUBMED   15592455
REFERENCE   8  (bases 1 to 1806)
  AUTHORS   Brychzy,A., Rein,T., Winklhofer,K.F., Hartl,F.U., Young,J.C. and
            Obermann,W.M.
  TITLE     Cofactor Tpr2 combines two TPR domains and a J domain to regulate
            the Hsp70/Hsp90 chaperone system
  JOURNAL   EMBO J 22 (14), 3613-3623 (2003)
   PUBMED   12853476
  REMARK    GeneRIF: TPR2 combines two TPR domains and a J domain to regulate
            the Hsp70/Hsp90 chaperone system.
REFERENCE   9  (bases 1 to 1806)
  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   10 (bases 1 to 1806)
  AUTHORS   Murthy,A.E., Bernards,A., Church,D., Wasmuth,J. and Gusella,J.F.
  TITLE     Identification and characterization of two novel tetratricopeptide
            repeat-containing genes
  JOURNAL   DNA Cell Biol 15 (9), 727-735 (1996)
   PUBMED   8836031
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX647209.1, BC011837.2 and
            BQ445927.1.
            
            On Nov 22, 2018 this sequence version replaced NM_003315.3.
            
            Summary: This gene encodes a member of the DNAJ heat shock protein
            40 family of proteins that is characterized by two N-terminal
            tetratricopeptide repeat domains and a C-terminal DNAJ domain. This
            protein binds the chaperone proteins heat shock proteins 70 and 90
            in an ATP-dependent manner and may function as a co-chaperone.
            Pseudogenes of this gene are found on chromosomes 1 and 6.
            Alternate splicing results in multiple transcript
            variants.[provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: SRR3476690.888846.1, BX647209.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000457167.9/ ENSP00000406463.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1146              BX647209.1         215-1360
            1147-1779           BC011837.2         1124-1756
            1780-1806           BQ445927.1         33-59               c
FEATURES             Location/Qualifiers
     source          1..1806
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..1806
                     /gene="DNAJC7"
                     /gene_synonym="DJ11; DJC7; TPR2; TTC2"
                     /note="DnaJ heat shock protein family (Hsp40) member C7"
                     /db_xref="GeneID:7266"
                     /db_xref="HGNC:HGNC:12392"
                     /db_xref="MIM:601964"
     exon            1..100
                     /gene="DNAJC7"
                     /gene_synonym="DJ11; DJC7; TPR2; TTC2"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..1508
                     /gene="DNAJC7"
                     /gene_synonym="DJ11; DJC7; TPR2; TTC2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     tetratricopeptide repeat domain 2; dnaJ homolog subfamily
                     C member 7; TPR repeat protein 2; tetratricopeptide repeat
                     protein 2; DnaJ (Hsp40) homolog, subfamily C, member 7"
                     /codon_start=1
                     /product="dnaJ homolog subfamily C member 7 isoform 1"
                     /protein_id="NP_003306.3"
                     /db_xref="CCDS:CCDS45677.1"
                     /db_xref="GeneID:7266"
                     /db_xref="HGNC:HGNC:12392"
                     /db_xref="MIM:601964"
                     /translation="MAAAAECDVVMAATEPELLDDQEAKREAETFKEQGNAYYAKKDY
                     NEAYNYYTKAIDMCPKNASYYGNRAATLMMLGRFREALGDAQQSVRLDDSFVRGHLRE
                     GKCHLSLGNAMAACRSFQRALELDHKNAQAQQEFKNANAVMEYEKIAETDFEKRDFRK
                     VVFCMDRALEFAPACHRFKILKAECLAMLGRYPEAQSVASDILRMDSTNADALYVRGL
                     CLYYEDCIEKAVQFFVQALRMAPDHEKACIACRNAKALKAKKEDGNKAFKEGNYKLAY
                     ELYTEALGIDPNNIKTNAKLYCNRGTVNSKLRKLDDAIEDCTNAVKLDDTYIKAYLRR
                     AQCYMDTEQYEEAVRDYEKVYQTEKTKEHKQLLKNAQLELKKSKRKDYYKILGVDKNA
                     SEDEIKKAYRKRALMHHPDRHSGASAEVQKEEEKKFKEVGEAFTILSDPKKKTRYDSG
                     QDLDEEGMNMGDFDPNNIFKAFFGGPGGFSFEASGPGNFFFQFG"
     exon            101..189
                     /gene="DNAJC7"
                     /gene_synonym="DJ11; DJC7; TPR2; TTC2"
                     /inference="alignment:Splign:2.1.0"
     exon            190..314
                     /gene="DNAJC7"
                     /gene_synonym="DJ11; DJC7; TPR2; TTC2"
                     /inference="alignment:Splign:2.1.0"
     exon            315..428
                     /gene="DNAJC7"
                     /gene_synonym="DJ11; DJC7; TPR2; TTC2"
                     /inference="alignment:Splign:2.1.0"
     exon            429..503
                     /gene="DNAJC7"
                     /gene_synonym="DJ11; DJC7; TPR2; TTC2"
                     /inference="alignment:Splign:2.1.0"
     exon            504..622
                     /gene="DNAJC7"
                     /gene_synonym="DJ11; DJC7; TPR2; TTC2"
                     /inference="alignment:Splign:2.1.0"
     exon            623..776
                     /gene="DNAJC7"
                     /gene_synonym="DJ11; DJC7; TPR2; TTC2"
                     /inference="alignment:Splign:2.1.0"
     exon            777..941
                     /gene="DNAJC7"
                     /gene_synonym="DJ11; DJC7; TPR2; TTC2"
                     /inference="alignment:Splign:2.1.0"
     exon            942..1033
                     /gene="DNAJC7"
                     /gene_synonym="DJ11; DJC7; TPR2; TTC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1034..1107
                     /gene="DNAJC7"
                     /gene_synonym="DJ11; DJC7; TPR2; TTC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1108..1254
                     /gene="DNAJC7"
                     /gene_synonym="DJ11; DJC7; TPR2; TTC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1255..1407
                     /gene="DNAJC7"
                     /gene_synonym="DJ11; DJC7; TPR2; TTC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1408..1470
                     /gene="DNAJC7"
                     /gene_synonym="DJ11; DJC7; TPR2; TTC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1471..1806
                     /gene="DNAJC7"
                     /gene_synonym="DJ11; DJC7; TPR2; TTC2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1783..1788
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAJC7"
                     /gene_synonym="DJ11; DJC7; TPR2; TTC2"
                     /note="hexamer: AATAAA"
     polyA_site      1806
                     /gene="DNAJC7"
                     /gene_synonym="DJ11; DJC7; TPR2; TTC2"
                     /note="major polyA site"
ORIGIN      
        1 agctctctgg tcccggcggt aagatggcgg ctgccgcgga gtgcgatgtg gtaatggcgg
       61 cgaccgagcc ggagctgctc gacgaccaag aggcgaagag ggaagcagag actttcaagg
      121 aacaaggaaa tgcatactat gccaagaaag attacaatga agcttataat tattatacaa
      181 aagccataga tatgtgtcct aaaaatgcta gctattatgg taatcgagca gccaccttga
      241 tgatgcttgg aaggttccgg gaagctcttg gagatgcaca acagtcagtg aggttggatg
      301 acagttttgt ccggggacat ctacgagagg gcaagtgcca cctctctctg gggaatgcca
      361 tggcagcatg tcgcagcttc cagagagccc tagaactgga tcataaaaat gctcaggcac
      421 aacaagagtt caagaatgct aatgcagtca tggaatatga gaaaatagca gaaacagatt
      481 ttgagaagcg agattttcgg aaggttgttt tctgcatgga ccgtgcccta gaatttgccc
      541 ctgcctgcca tcgcttcaaa atcctcaagg cagaatgttt agcaatgctg ggtcgttatc
      601 cagaagcaca gtctgtggct agtgacattc tacgaatgga ttccaccaat gcagatgctc
      661 tgtatgtacg aggtctttgc ctttattacg aagattgtat tgagaaggca gttcagtttt
      721 tcgtacaggc tctcaggatg gctcctgacc acgagaaggc ctgcattgcc tgcagaaatg
      781 ccaaagcact caaagcaaag aaagaagatg ggaataaagc atttaaggaa ggaaattaca
      841 aactagcata tgaactgtac acagaagccc tggggataga ccccaacaat ataaaaacaa
      901 atgctaaact ctactgtaat cggggtacgg ttaattccaa gcttaggaaa ctagatgatg
      961 caatagaaga ctgcacaaat gcagtgaagc ttgatgacac ttacataaaa gcctacttga
     1021 gaagagctca gtgttacatg gacacagaac agtatgaaga agcagtacga gactatgaaa
     1081 aagtatacca gacagagaaa acaaaagaac acaaacagct cctaaaaaat gcgcagctgg
     1141 aactgaagaa gagtaagagg aaagattact acaagattct aggagtggac aagaatgcct
     1201 ctgaggacga gatcaagaaa gcttatcgga aacgggcctt gatgcaccat ccagatcggc
     1261 atagtggagc cagtgctgag gttcagaagg aggaggagaa gaagttcaag gaagttggag
     1321 aggcctttac tatcctctct gatcccaaga aaaagactcg ctatgacagt ggacaggacc
     1381 tagatgagga gggcatgaat atgggtgatt ttgatccaaa caatatcttc aaggcattct
     1441 ttggcggtcc tggcggcttc agctttgaag catctggtcc agggaatttc ttttttcaat
     1501 ttggctaatg aagggcaacc acccagaacc cagaaaatgc agattcactc agtttaatct
     1561 tgaatgtgga aacagttcac ctcctccctt catcacgtct ccgtgtgctt agagcagttt
     1621 cgttttctca gttggatgcc ctgtgtctct gtgagtgggg tggagcaaag ggaaccaatg
     1681 ccgaagaccg agggcagggg agggaggcgg gggtggacag ggaggcagct tgtgaatttt
     1741 tgttttactg tttaacttta ttaaaaaaga aaaaaaaaag agaataaaat gttttgaccc
     1801 ttcctg
//
