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    DNAJC5B DnaJ heat shock protein family (Hsp40) member C5 beta [ Homo sapiens (human) ]

    Gene ID: 85479, updated on 14-Nov-2024

    Summary

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    Official Symbol
    DNAJC5Bprovided by HGNC
    Official Full Name
    DnaJ heat shock protein family (Hsp40) member C5 betaprovided by HGNC
    Primary source
    HGNC:HGNC:24138
    See related
    Ensembl:ENSG00000147570 MIM:613945; AllianceGenome:HGNC:24138
    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
    CSP-beta
    Summary
    This gene encodes a member of the DNAJ heat shock protein 40 family of co-chaperone proteins that is characterized by an N-terminal DNAJ domain, a linker region, and a cysteine-rich C-terminal domain. The encoded protein, together with heat shock protein 70, is thought to regulate the proper folding of other proteins. The orthologous mouse protein is membrane-associated and is targeted to the trans-golgi network. [provided by RefSeq, Mar 2017]
    Expression
    Biased expression in testis (RPKM 18.0), lymph node (RPKM 1.5) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See DNAJC5B in Genome Data Viewer
    Location:
    8q13.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (66014978..66101245)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (66440668..66526936)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (66927213..67013480)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:66753999-66754568 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:66754569-66755137 Neighboring gene MPRA-validated peak7056 silencer Neighboring gene PDE7A divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27465 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:66842558-66843076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:66843077-66843595 Neighboring gene uncharacterized LOC107986950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27467 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27469 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:66862529-66863728 Neighboring gene uncharacterized LOC105375883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27470 Neighboring gene Sharpr-MPRA regulatory region 3041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19250 Neighboring gene Sharpr-MPRA regulatory region 492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27472 Neighboring gene H3K27ac hESC enhancers GRCh37_chr8:67025273-67025924 and GRCh37_chr8:67025925-67026577 Neighboring gene tRNA-Tyr (anticodon GTA) 5-1 Neighboring gene tRNA-Tyr (anticodon GTA) 5-2 Neighboring gene tripartite motif containing 55

    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
    • 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. Down-regulation of HSP40 gene family following OCT4B1 suppression in human tumor cell lines. Mirzaei MR, et al. Iran J Basic Med Sci, 2016 Feb. PMID 27081464, Free PMC Article
    2. Cysteine-string protein isoform beta (Cspbeta) is targeted to the trans-Golgi network as a non-palmitoylated CSP in clonal beta-cells. Boal F, et al. Biochim Biophys Acta, 2007 Feb. PMID 17034881
    3. Heat shock proteins HSPB8 and DNAJC5B have HCV antiviral activity. Braga ACS, et al. PLoS One, 2017. PMID 29182667, Free PMC Article
    4. Human DNAJ in cancer and stem cells. Sterrenberg JN, et al. Cancer Lett, 2011 Dec 22. PMID 21925790
    5. Cysteine string protein beta is prominently associated with nerve terminals and secretory organelles in mouse brain. Gundersen CB, et al. Brain Res, 2010 May 21. PMID 20338151

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. suggest that HSPB8 may act as an intracellular factor against hepatitis C virus replication and that DNAJC5B has the same function, with more relevant results for genotype 3
      Title: Heat shock proteins HSPB8 and DNAJC5B have HCV antiviral activity.
    2. These results suggest a possible correlation between the specific membrane targeting and the palmitoylation level of CSPs.
      Title: Cysteine-string protein isoform beta (Cspbeta) is targeted to the trans-Golgi network as a non-palmitoylated CSP in clonal beta-cells.
    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

    EBI GWAS Catalog

    Description
    Genome-wide study of gene variants associated with differential cardiovascular event reduction by pravastatin therapy.
    EBI GWAS Catalog
    Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC26226

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    dnaJ homolog subfamily C member 5B
    Names
    DnaJ (Hsp40) homolog, subfamily C, member 5 beta
    THE1B/DNAJC5B.1
    beta cysteine string protein
    beta-CSP
    cysteine string protein beta
    dnaJ homolog subfamily C member X
    testicular tissue protein Li 55

    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_053039.1 RefSeqGene

      Range
      11571..91263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001349432.2 → NP_001336361.1  dnaJ homolog subfamily C member 5B

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC084082, AF368276, BG701336, BU627018
      Consensus CDS
      CCDS6183.1
      UniProtKB/Swiss-Prot
      Q969Y8, Q9UF47
      UniProtKB/TrEMBL
      A0A024R7Z1
      Conserved Domains (1) summary
      PRK10767
      Location:21 → 84
      PRK10767; chaperone protein DnaJ; Provisional

    2. NM_033105.6 → NP_149096.2  dnaJ homolog subfamily C member 5B

      See identical proteins and their annotated locations for NP_149096.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the functional protein. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC084082, AF368276, BG701336, BU627018
      Consensus CDS
      CCDS6183.1
      UniProtKB/Swiss-Prot
      Q969Y8, Q9UF47
      UniProtKB/TrEMBL
      A0A024R7Z1
      Related
      ENSP00000276570.5, ENST00000276570.10
      Conserved Domains (1) summary
      PRK10767
      Location:21 → 84
      PRK10767; chaperone protein DnaJ; Provisional

    RNA

    1. NR_146171.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC084082, AL133660

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      66014978..66101245
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517620.3 → XP_011515922.1  dnaJ homolog subfamily C member 5B isoform X1

      Conserved Domains (2) summary
      COG0484
      Location:21 → 88
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
      pfam00226
      Location:20 → 81
      DnaJ; DnaJ domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      66440668..66526936
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361411.1 → XP_054217386.1  dnaJ homolog subfamily C member 5B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UF47.2 GenPept UniProtKB/Swiss-Prot:Q9UF47

    Gene LinkOut

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

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