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    DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 [ Homo sapiens (human) ]

    Gene ID: 10049, updated on 6-Jun-2024

    Summary

    Official Symbol
    DNAJB6provided by HGNC
    Official Full Name
    DnaJ heat shock protein family (Hsp40) member B6provided by HGNC
    Primary source
    HGNC:HGNC:14888
    See related
    Ensembl:ENSG00000105993 MIM:611332; AllianceGenome:HGNC:14888
    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
    DJ4; MRJ; DnaJ; HSJ2; HHDJ1; HSJ-2; MSJ-1; LGMD1D; LGMD1E; LGMDD1
    Summary
    This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
    Annotation information
    Note: We recognize that OMIM uses LGMD1E to refer to the locus on chromosome 7. There are many citations, however, including PubMed 8533766, 15316618, 20682716, and 21376592 which define LGMD1D as the locus on chromosome 7. We are retaining the usage of the HUGO Gene Nomenclature Committee (HGNC). [25 Nov 2014]
    Expression
    Ubiquitous expression in testis (RPKM 36.6), bone marrow (RPKM 32.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DNAJB6 in Genome Data Viewer
    Location:
    7q36.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (157337004..157417439)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (158524848..158605388)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (157129698..157210133)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ubiquitin protein ligase E3C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157064509-157065277 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157065278-157066047 Neighboring gene ribosomal protein L36a pseudogene 30 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157074692-157075645 Neighboring gene uncharacterized LOC124901803 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157081913-157082520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157082521-157083126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157084407-157085020 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:157092843-157093017 Neighboring gene Sharpr-MPRA regulatory region 5233 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26924 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157100891-157101432 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157101433-157101972 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157101973-157102514 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr7:157102515-157103054 and GRCh37_chr7:157103055-157103596 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157103597-157104136 Neighboring gene Sharpr-MPRA regulatory region 5385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26926 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157129146-157129648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157129649-157130152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26927 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157133233-157133753 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157141921-157142490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26928 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:157166121-157166319 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157182939-157183539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157193377-157193935 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157194192-157195182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157198555-157199224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157201081-157202080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157202081-157203080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157203081-157204078 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:157220516-157220681 Neighboring gene MPRA-validated peak6870 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157225071-157225580 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:157234065-157234596 Neighboring gene uncharacterized LOC101927914 Neighboring gene Sharpr-MPRA regulatory region 4962 Neighboring gene MPRA-validated peak6872 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26930 Neighboring gene uncharacterized LOC105375610

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
    MedGen: C4721885 OMIM: 603511 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-10-29)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-10-29)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of DnaJ (Hsp40) homolog, subfamily B, member 6 (DNAJB6) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Rev rev The expression of HSP40B6 (DNAJB6) inhibits HIV-1 Rev expression at the posttranscriptional levels, leading to the reduction of HIV-1 RNA accumulation PubMed
    Vpr vpr The nuclear localization of HIV-1 Vpr is facilitated by DNAJB6 (MRJ-L) PubMed
    capsid gag HSP40B6 (DNAJB6) inhibits HIV-1 production as measured by the level of viral p24 capsid in the culture supernatant. The HSP40B6 (1-97) mutant lacking most of the C-terminal portion is more potent in inhibiting HIV-1 production than its wild-type PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC1152, FLJ42837, MGC117297, DKFZp566D0824

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATPase activator activity TAS
    Traceable Author Statement
    more info
     
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables Hsp70 protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables heat shock protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein folding chaperone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein-folding chaperone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein-folding chaperone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein-folding chaperone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables unfolded protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables unfolded protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chaperone-mediated protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chorio-allantoic fusion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chorion development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intermediate filament organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of inclusion body assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of inclusion body assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein folding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein localization to nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cellular response to heat TAS
    Traceable Author Statement
    more info
     
    involved_in regulation of protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in syncytiotrophoblast cell differentiation involved in labyrinthine layer development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in membrane HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    dnaJ homolog subfamily B member 6
    Names
    DnaJ (Hsp40) homolog, subfamily B, member 6
    DnaJ-like 2 protein
    heat shock protein J2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_032573.1 RefSeqGene

      Range
      4989..85424
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001363676.1NP_001350605.1  dnaJ homolog subfamily B member 6 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC006372, AK223601, AK297497, AK301152
      Consensus CDS
      CCDS87571.1
      UniProtKB/TrEMBL
      B4DMJ9, E9PH18
      Related
      ENSP00000396267.1, ENST00000443280.5
      Conserved Domains (1) summary
      COG0484
      Location:2106
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
    2. NM_005494.3NP_005485.1  dnaJ homolog subfamily B member 6 isoform b

      See identical proteins and their annotated locations for NP_005485.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and has a distinct 3' UTR, compared to transcript variant 1. The resulting isoform (b) is shorter and distinct, compared to isoform a.
      Source sequence(s)
      AC079306
      Consensus CDS
      CCDS47755.1
      UniProtKB/TrEMBL
      A7UJ17
      Related
      ENSP00000397556.2, ENST00000429029.6
      Conserved Domains (1) summary
      COG0484
      Location:2106
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
    3. NM_058246.4NP_490647.1  dnaJ homolog subfamily B member 6 isoform a

      See identical proteins and their annotated locations for NP_490647.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript variant and encodes the longer isoform (a).
      Source sequence(s)
      AC006372, AC079306
      Consensus CDS
      CCDS5946.1
      UniProtKB/Swiss-Prot
      A4D232, A8K7D8, A8KAG0, B4DN73, E9PCZ2, O75190, O95806, Q53EN8, Q59EF2, Q6FIC8, Q75MA2, Q9UIK6
      UniProtKB/TrEMBL
      B4DNN5
      Related
      ENSP00000262177.4, ENST00000262177.9
      Conserved Domains (1) summary
      COG0484
      Location:2106
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      157337004..157417439
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715823.3XP_006715886.1  dnaJ homolog subfamily B member 6 isoform X3

      UniProtKB/TrEMBL
      C9J2C4
      Conserved Domains (2) summary
      COG0484
      Location:2106
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
      pfam00226
      Location:366
      DnaJ; DnaJ domain
    2. XM_005249515.4XP_005249572.1  dnaJ homolog subfamily B member 6 isoform X1

      See identical proteins and their annotated locations for XP_005249572.1

      UniProtKB/TrEMBL
      A0A0J9YX62, B4DNN5
      Related
      ENSP00000488263.1, ENST00000459889.5
      Conserved Domains (1) summary
      COG0484
      Location:2106
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
    3. XM_047419698.1XP_047275654.1  dnaJ homolog subfamily B member 6 isoform X2

      UniProtKB/Swiss-Prot
      A4D232, A8K7D8, A8KAG0, B4DN73, E9PCZ2, O75190, O95806, Q53EN8, Q59EF2, Q6FIC8, Q75MA2, Q9UIK6
      UniProtKB/TrEMBL
      B4DNN5
    4. XM_047419696.1XP_047275652.1  dnaJ homolog subfamily B member 6 isoform X2

      UniProtKB/Swiss-Prot
      A4D232, A8K7D8, A8KAG0, B4DN73, E9PCZ2, O75190, O95806, Q53EN8, Q59EF2, Q6FIC8, Q75MA2, Q9UIK6
      UniProtKB/TrEMBL
      B4DNN5
    5. XM_047419697.1XP_047275653.1  dnaJ homolog subfamily B member 6 isoform X2

      UniProtKB/Swiss-Prot
      A4D232, A8K7D8, A8KAG0, B4DN73, E9PCZ2, O75190, O95806, Q53EN8, Q59EF2, Q6FIC8, Q75MA2, Q9UIK6
      UniProtKB/TrEMBL
      B4DNN5
    6. XM_005249516.3XP_005249573.1  dnaJ homolog subfamily B member 6 isoform X1

      See identical proteins and their annotated locations for XP_005249573.1

      UniProtKB/TrEMBL
      A0A0J9YX62, B4DNN5
      Conserved Domains (1) summary
      COG0484
      Location:2106
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
    7. XM_047419695.1XP_047275651.1  dnaJ homolog subfamily B member 6 isoform X1

      UniProtKB/TrEMBL
      A0A0J9YX62, B4DNN5
      Conserved Domains (1) summary
      COG0484
      Location:2106
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
    8. XM_011515704.2XP_011514006.1  dnaJ homolog subfamily B member 6 isoform X1

      See identical proteins and their annotated locations for XP_011514006.1

      UniProtKB/TrEMBL
      A0A0J9YX62, B4DNN5
      Related
      ENSP00000488740.1, ENST00000634080.1
      Conserved Domains (1) summary
      COG0484
      Location:2106
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      158524848..158605388
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356975.1XP_054212950.1  dnaJ homolog subfamily B member 6 isoform X3

      UniProtKB/TrEMBL
      C9J2C4
    2. XM_054356969.1XP_054212944.1  dnaJ homolog subfamily B member 6 isoform X1

      UniProtKB/TrEMBL
      A0A0J9YX62, B4DNN5
    3. XM_054356974.1XP_054212949.1  dnaJ homolog subfamily B member 6 isoform X2

      UniProtKB/Swiss-Prot
      A4D232, A8K7D8, A8KAG0, B4DN73, E9PCZ2, O75190, O95806, Q53EN8, Q59EF2, Q6FIC8, Q75MA2, Q9UIK6
      UniProtKB/TrEMBL
      B4DNN5
    4. XM_054356973.1XP_054212948.1  dnaJ homolog subfamily B member 6 isoform X2

      UniProtKB/Swiss-Prot
      A4D232, A8K7D8, A8KAG0, B4DN73, E9PCZ2, O75190, O95806, Q53EN8, Q59EF2, Q6FIC8, Q75MA2, Q9UIK6
      UniProtKB/TrEMBL
      B4DNN5
    5. XM_054356971.1XP_054212946.1  dnaJ homolog subfamily B member 6 isoform X1

      UniProtKB/TrEMBL
      A0A0J9YX62, B4DNN5
    6. XM_054356970.1XP_054212945.1  dnaJ homolog subfamily B member 6 isoform X1

      UniProtKB/TrEMBL
      A0A0J9YX62, B4DNN5
    7. XM_054356972.1XP_054212947.1  dnaJ homolog subfamily B member 6 isoform X2

      UniProtKB/Swiss-Prot
      A4D232, A8K7D8, A8KAG0, B4DN73, E9PCZ2, O75190, O95806, Q53EN8, Q59EF2, Q6FIC8, Q75MA2, Q9UIK6
      UniProtKB/TrEMBL
      B4DNN5