LOCUS       NP_001012339             531 aa            linear   PRI 06-OCT-2024
DEFINITION  dnaJ homolog subfamily C member 21 isoform 2 [Homo sapiens].
ACCESSION   NP_001012339
VERSION     NP_001012339.2
DBSOURCE    REFSEQ: accession NM_001012339.3
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  (residues 1 to 531)
  AUTHORS   Morini,J., Nacci,L., Babini,G., Cesaro,S., Valli,R., Ottolenghi,A.,
            Nicolis,E., Pintani,E., Maserati,E., Cipolli,M., Danesino,C.,
            Scotti,C. and Minelli,A.
  TITLE     Whole exome sequencing discloses heterozygous variants in the
            DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients
            with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations
  JOURNAL   Br J Haematol 185 (3), 627-630 (2019)
   PUBMED   30198570
  REMARK    GeneRIF: Whole exome sequencing discloses heterozygous variants in
            the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients
            with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.
REFERENCE   2  (residues 1 to 531)
  AUTHORS   D'Amours,G., Lopes,F., Gauthier,J., Saillour,V., Nassif,C.,
            Wynn,R., Alos,N., Leblanc,T., Capri,Y., Nizard,S., Lemyre,E.,
            Michaud,J.L., Pelletier,V.A., Pastore,Y.D. and Soucy,J.F.
  TITLE     Refining the phenotype associated with biallelic DNAJC21 mutations
  JOURNAL   Clin Genet 94 (2), 252-258 (2018)
   PUBMED   29700810
  REMARK    GeneRIF: We suggest that DNAJC21-related diseases constitute a
            distinct Inherited bone marrow failure syndromes (IBMFS) , with
            features overlapping Shwachman-Diamond syndrome and Dyskeratosis
            congenita, and additional characteristics that are specific to
            DNAJC21 mutations
REFERENCE   3  (residues 1 to 531)
  AUTHORS   Warren,A.J.
  TITLE     Molecular basis of the human ribosomopathy Shwachman-Diamond
            syndrome
  JOURNAL   Adv Biol Regul 67, 109-127 (2018)
   PUBMED   28942353
  REMARK    Review article
REFERENCE   4  (residues 1 to 531)
  AUTHORS   Dhanraj,S., Matveev,A., Li,H., Lauhasurayotin,S., Jardine,L.,
            Cada,M., Zlateska,B., Tailor,C.S., Zhou,J., Mendoza-Londono,R.,
            Vincent,A., Durie,P.R., Scherer,S.W., Rommens,J.M., Heon,E. and
            Dror,Y.
  TITLE     Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome
  JOURNAL   Blood 129 (11), 1557-1562 (2017)
   PUBMED   28062395
  REMARK    GeneRIF: Biallelic mutations in DNAJC21 cause Shwachman-Diamond
            syndrome.
REFERENCE   5  (residues 1 to 531)
  AUTHORS   Tummala,H., Walne,A.J., Williams,M., Bockett,N., Collopy,L.,
            Cardoso,S., Ellison,A., Wynn,R., Leblanc,T., Fitzgibbon,J.,
            Kelsell,D.P., van Heel,D.A., Payne,E., Plagnol,V., Dokal,I. and
            Vulliamy,T.
  TITLE     DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome
            to Corruption in 60S Ribosome Subunit Maturation
  JOURNAL   Am J Hum Genet 99 (1), 115-124 (2016)
   PUBMED   27346687
  REMARK    GeneRIF: findings demonstrate that mutations in DNAJC21 cause a
            cancer-prone bone marrow failure syndrome due to corruption of
            early nuclear rRNA biogenesis and late cytoplasmic maturation of
            the 60S subunit
REFERENCE   6  (residues 1 to 531)
  AUTHORS   Miyamoto-Sato,E., Fujimori,S., Ishizaka,M., Hirai,N., Masuoka,K.,
            Saito,R., Ozawa,Y., Hino,K., Washio,T., Tomita,M., Yamashita,T.,
            Oshikubo,T., Akasaka,H., Sugiyama,J., Matsumoto,Y. and Yanagawa,H.
  TITLE     A comprehensive resource of interacting protein regions for
            refining human transcription factor networks
  JOURNAL   PLoS One 5 (2), e9289 (2010)
   PUBMED   20195357
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 531)
  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   8  (residues 1 to 531)
  AUTHORS   Qiu,X.B., Shao,Y.M., Miao,S. and Wang,L.
  TITLE     The diversity of the DnaJ/Hsp40 family, the crucial partners for
            Hsp70 chaperones
  JOURNAL   Cell Mol Life Sci 63 (22), 2560-2570 (2006)
   PUBMED   16952052
  REMARK    Review article
REFERENCE   9  (residues 1 to 531)
  AUTHORS   Chen,J., Yin,G., Lu,Y., Lou,M., Cheng,H., Ni,X., Hu,G., Luo,C.,
            Ying,K., Xie,Y. and Mao,Y.
  TITLE     Cloning and characterization of a novel human cDNA encoding a
            J-domain protein (DNAJA5) from the fetal brain
  JOURNAL   Int J Mol Med 13 (5), 735-740 (2004)
   PUBMED   15067379
  REMARK    GeneRIF: molecular cloning
REFERENCE   10 (residues 1 to 531)
  AUTHORS   Nelson,A. and Myers,K.
  TITLE     Shwachman-Diamond Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301722
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026801.7, BC065745.1,
            AY258422.1 and AC008795.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 21, 2005 this sequence version replaced NP_001012339.1.
            
            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 precursor 45S ribosomal RNA and may be involved
            in early nuclear ribosomal RNA biogenesis and maturation of the 60S
            ribosomal subunit. Mutations in this gene result in Bone marrow
            failure syndrome 3. Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Feb 2017].
            
            Transcript Variant: This variant (2) lacks an in-frame exon in the
            coding region, as compared to variant 1. The encoded isoform (2)
            lacks an internal segment, as compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1803617.89834.1,
                                           SRR1660809.2077.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000648817.1/
                                                ENSP00000497410.1
            RefSeq Select criteria           :: based on conservation,
                                                expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..531
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.2"
     Protein         1..531
                     /product="dnaJ homolog subfamily C member 21 isoform 2"
                     /note="JJJ1 DnaJ domain protein homolog; dnaJ homolog
                     subfamily C member 21; DnaJ homology subfamily A member 5;
                     dnaJ homolog subfamily A member 5; DnaJ (Hsp40) homolog,
                     subfamily C, member 21"
                     /calculated_mol_wt=61897
     Region          2..>79
                     /region_name="PRK10767"
                     /note="chaperone protein DnaJ; Provisional"
                     /db_xref="CDD:236757"
     Region          4..>267
                     /region_name="ZUO1"
                     /note="Ribosome-associated chaperone zuotin [Translation,
                     ribosomal structure and biogenesis / Posttranslational
                     modification, protein turnover, chaperones]; COG5269"
                     /db_xref="CDD:227594"
     Region          279..311
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5F1R6.2)"
     Site            283
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q5F1R6.2)"
     Site            302
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (Q5F1R6.2)"
     Region          314..339
                     /region_name="zf-C2H2_jaz"
                     /note="Zinc-finger double-stranded RNA-binding; pfam12171"
                     /db_xref="CDD:432381"
     Region          316..338
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     Region          327..474
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5F1R6.2)"
     Site            370
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q5F1R6.2)"
     Region          502..531
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5F1R6.2)"
     Site            511
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q5F1R6.2)"
     CDS             1..531
                     /gene="DNAJC21"
                     /gene_synonym="BMFS3; DNAJA5; GS3; JJJ1"
                     /coded_by="NM_001012339.3:262..1857"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS34144.1"
                     /db_xref="GeneID:134218"
                     /db_xref="HGNC:HGNC:27030"
                     /db_xref="MIM:617048"
ORIGIN      
        1 mkchyealgv rrdaseeelk kayrklalkw hpdknldnaa eaaeqfkliq aaydvlsdpq
       61 erawydnhre allkggfdge yqddsldllr yftvtcysgy gddekgfytv yrnvfemiak
      121 eelesvleee vddfptfgds qsdydtvvhp fyaywqsfct qknfawkeey dtrqasnrwe
      181 kramekenkk irdkarkekn elvrqlvafi rkrdkrvqah rklveeqnae karkaeemrr
      241 qqklkqaklv eqyreqswmt manlekelqe mearyekefg dgsdenemee helkdeedgk
      301 dsdeaedael yddlycpacd ksfktekamk nhekskkhre mvallkqqle eeeenfsrpq
      361 idenplddns eeemedapkq klskkqkkkk qkpaqnyddn fnvngpgegv kvdpedtnln
      421 qdsakeleds pqenvsvtei ikpcddpkse aksvpkpkgk ktkdmkkpvr vpaepqtmsv
      481 liscttchse fpsrnklfdh lkatgharap sssslnsats sqskkekrkn r
//
