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    DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 [ Homo sapiens (human) ]

    Gene ID: 134218, updated on 3-Nov-2024

    Summary

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    Official Symbol
    DNAJC21provided by HGNC
    Official Full Name
    DnaJ heat shock protein family (Hsp40) member C21provided by HGNC
    Primary source
    HGNC:HGNC:27030
    See related
    Ensembl:ENSG00000168724 MIM:617048; AllianceGenome:HGNC:27030
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GS3; JJJ1; BMFS3; DNAJA5
    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]
    Expression
    Ubiquitous expression in testis (RPKM 12.7), placenta (RPKM 6.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DNAJC21 in Genome Data Viewer
    Location:
    5p13.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (34929559..34958964)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (35176588..35205995)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (34929664..34959069)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 23 like Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr5:34915193-34915798 and GRCh37_chr5:34915799-34916404 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:34922818-34924017 Neighboring gene uncharacterized LOC124900961 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:34930148-34930793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15968 Neighboring gene RAD1 checkpoint DNA exonuclease Neighboring gene biogenesis of ribosomes BRX1 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:34955801-34955974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22470 Neighboring gene alanine--glyoxylate aminotransferase 2 Neighboring gene NANOG hESC enhancer GRCh37_chr5:35089574-35090075 Neighboring gene prolactin receptor Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:35117544-35118743 Neighboring gene Sharpr-MPRA regulatory region 5567

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Refining the phenotype associated with biallelic DNAJC21 mutations. D'Amours G, et al. Clin Genet, 2018 Aug. PMID 29700810
    2. Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome. Warren AJ. Adv Biol Regul, 2018 Jan. PMID 28942353, Free PMC Article
    3. Cloning and characterization of a novel human cDNA encoding a J-domain protein (DNAJA5) from the fetal brain. Chen J, et al. Int J Mol Med, 2004 May. PMID 15067379
    4. Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. Dhanraj S, et al. Blood, 2017 Mar 16. PMID 28062395
    5. DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation. Tummala H, et al. Am J Hum Genet, 2016 Jul 7. PMID 27346687, Free PMC Article

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
      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.
    2. 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
      Title: Refining the phenotype associated with biallelic DNAJC21 mutations.
    3. Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.
      Title: Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.
    4. 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
      Title: DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.
    5. molecular cloning
      Title: Cloning and characterization of a novel human cDNA encoding a J-domain protein (DNAJA5) from the fetal brain.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Bone marrow failure syndrome 3
    MedGen: C4310744 OMIM: 617052 GeneReviews: Not available
    		not available
    Shwachman syndrome
    MedGen: C0272170 GeneReviews: Shwachman-Diamond Syndrome
    		not available
    Shwachman-Diamond syndrome 1
    MedGen: C4692625 OMIM: 260400 GeneReviews: Shwachman-Diamond Syndrome, Pancreatitis Overview
    		not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-10-14)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2020-10-14)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein folding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in ribosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    dnaJ homolog subfamily C member 21
    Names
    DnaJ (Hsp40) homolog, subfamily C, member 21
    DnaJ homology subfamily A member 5
    JJJ1 DnaJ domain protein homolog
    dnaJ homolog subfamily A member 5

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_052822.1 RefSeqGene

      Range
      5020..34425
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1214

    mRNA and Protein(s)

    1. NM_001012339.3 → NP_001012339.2  dnaJ homolog subfamily C member 21 isoform 2

      See identical proteins and their annotated locations for NP_001012339.2

      Status: REVIEWED

      Description
      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.
      Source sequence(s)
      AC008795, AC026801, AY258422, BC065745
      Consensus CDS
      CCDS34144.1
      UniProtKB/Swiss-Prot
      Q3B7J9, Q5F1R6, Q6P086, Q6ZS43, Q86VC6
      Related
      ENSP00000497410.1, ENST00000648817.1
      Conserved Domains (4) summary
      sd00020
      Location:316 → 338
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00226
      Location:3 → 66
      DnaJ; DnaJ domain
      pfam12171
      Location:314 → 339
      zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
      pfam13892
      Location:181 → 243
      DBINO; DNA-binding domain

    2. NM_001348420.2 → NP_001335349.1  dnaJ homolog subfamily C member 21 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 3, which is shorter than isoform 1.
      Source sequence(s)
      AC008795, AC026801, AY258422, BC065745, BC107577
      Consensus CDS
      CCDS87294.1
      UniProtKB/Swiss-Prot
      Q5F1R6
      Related
      ENSP00000496545.1, ENST00000642851.1
      Conserved Domains (4) summary
      sd00020
      Location:316 → 338
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12171
      Location:314 → 339
      zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
      cl26511
      Location:167 → 381
      Neuromodulin_N; Gap junction protein N-terminal region
      cl28246
      Location:2 → 79
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    3. NM_194283.4 → NP_919259.3  dnaJ homolog subfamily C member 21 isoform 1

      See identical proteins and their annotated locations for NP_919259.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC008795, AC026801, AK127749, BC050472, BC065745, BX648765
      Consensus CDS
      CCDS3907.2
      UniProtKB/Swiss-Prot
      Q5F1R6
      Related
      ENSP00000371451.2, ENST00000382021.2
      Conserved Domains (4) summary
      sd00020
      Location:316 → 338
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00226
      Location:3 → 66
      DnaJ; DnaJ domain
      pfam12171
      Location:314 → 339
      zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
      pfam13892
      Location:181 → 243
      DBINO; DNA-binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      34929559..34958964
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513965.3 → XP_011512267.2  dnaJ homolog subfamily C member 21 isoform X1

    2. XM_011513966.3 → XP_011512268.2  dnaJ homolog subfamily C member 21 isoform X2

    3. XM_005248250.4 → XP_005248307.2  dnaJ homolog subfamily C member 21 isoform X4

    4. XM_047416719.1 → XP_047272675.1  dnaJ homolog subfamily C member 21 isoform X3

    5. XM_047416720.1 → XP_047272676.1  dnaJ homolog subfamily C member 21 isoform X5

      Related
      ENST00000512136.2

    6. XM_047416722.1 → XP_047272678.1  dnaJ homolog subfamily C member 21 isoform X6

      UniProtKB/TrEMBL
      A0A2R8Y4Q0
      Related
      ENSP00000493883.1, ENST00000642285.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      35176588..35205995
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351617.1 → XP_054207592.1  dnaJ homolog subfamily C member 21 isoform X1

    2. XM_054351618.1 → XP_054207593.1  dnaJ homolog subfamily C member 21 isoform X2

    3. XM_054351620.1 → XP_054207595.1  dnaJ homolog subfamily C member 21 isoform X4

    4. XM_054351619.1 → XP_054207594.1  dnaJ homolog subfamily C member 21 isoform X3

    5. XM_054351621.1 → XP_054207596.1  dnaJ homolog subfamily C member 21 isoform X5

    6. XM_054351622.1 → XP_054207597.1  dnaJ homolog subfamily C member 21 isoform X6

      UniProtKB/TrEMBL
      A0A2R8Y4Q0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5F1R6.2 GenPept UniProtKB/Swiss-Prot:Q5F1R6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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