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

    Gene ID: 134218, updated on 17-Jun-2019

    Summary

    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
    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

    Genomic context

    See DNAJC21 in Genome Data Viewer
    Location:
    5p13.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (34929540..34958964)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (34929698..34959069)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RAD1 checkpoint DNA exonuclease Neighboring gene biogenesis of ribosomes BRX1 Neighboring gene alanine--glyoxylate aminotransferase 2 Neighboring gene prolactin receptor

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Bone marrow failure syndrome 3
    MedGen: C4310744 OMIM: 617052 GeneReviews: Not available
    Compare labs
    Shwachman syndrome Compare labs

    NHGRI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding HDA PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    protein folding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    ribosome NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    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)

    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_001012339.3NP_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
      Q5F1R6
      Related
      ENSP00000497410.1, ENST00000648817.1
      Conserved Domains (4) summary
      sd00020
      Location:316338
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00226
      Location:366
      DnaJ; DnaJ domain
      pfam12171
      Location:314339
      zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
      pfam13892
      Location:181243
      DBINO; DNA-binding domain
    2. NM_001348420.1NP_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, BX648765
      Consensus CDS
      CCDS87294.1
      UniProtKB/Swiss-Prot
      Q5F1R6
      Related
      ENSP00000496545.1, ENST00000642851.1
      Conserved Domains (4) summary
      sd00020
      Location:316338
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12171
      Location:314339
      zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
      cl26511
      Location:167381
      Neuromodulin_N; Gap junction protein N-terminal region
      cl28246
      Location:279
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
    3. NM_194283.3NP_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, AK127749, BC050472, BC065745, BX648765
      Consensus CDS
      CCDS3907.2
      UniProtKB/Swiss-Prot
      Q5F1R6
      Related
      ENSP00000371451.2, ENST00000382021.2
      Conserved Domains (4) summary
      sd00020
      Location:316338
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00226
      Location:366
      DnaJ; DnaJ domain
      pfam12171
      Location:314339
      zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
      pfam13892
      Location:181243
      DBINO; DNA-binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      34929540..34958964
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

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

    3. XM_005248250.3XP_005248307.2  dnaJ homolog subfamily C member 21 isoform X3

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