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    Dnajb4 DnaJ heat shock protein family (Hsp40) member B4 [ Mus musculus (house mouse) ]

    Gene ID: 67035, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Dnajb4provided by MGI
    Official Full Name
    DnaJ heat shock protein family (Hsp40) member B4provided by MGI
    Primary source
    MGI:MGI:1914285
    See related
    Ensembl:ENSMUSG00000028035 AllianceGenome:MGI:1914285
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    1700029A20Rik; 2010306G19Rik; 5730460G06Rik
    Summary
    Predicted to enable ATPase activator activity; protein-folding chaperone binding activity; and unfolded protein binding activity. Predicted to be involved in chaperone cofactor-dependent protein refolding and negative regulation of transcription by RNA polymerase II. Predicted to be located in Z disc; nucleoplasm; and plasma membrane. Predicted to be active in cytosol. Used to study distal myopathy. Human ortholog(s) of this gene implicated in congenital myopathy 21. Orthologous to human DNAJB4 (DnaJ heat shock protein family (Hsp40) member B4). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis adult (RPKM 16.1), bladder adult (RPKM 10.9) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Dnajb4 in Genome Data Viewer
    Location:
    3 H3; 3 77.03 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (151887217..151915720, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (152181580..152210432, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene phosphatidylethanolamine binding protein 1 pseudogene Neighboring gene predicted gene, 31881 Neighboring gene GIPC PDZ domain containing family, member 2 Neighboring gene predicted gene, 40179 Neighboring gene STARR-seq mESC enhancer starr_09281 Neighboring gene STARR-seq mESC enhancer starr_09282 Neighboring gene STARR-seq mESC enhancer starr_09283 Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:151866980-151867163 Neighboring gene STARR-positive B cell enhancer ABC_E2101 Neighboring gene predicted gene, 40180 Neighboring gene far upstream element (FUSE) binding protein 1 Neighboring gene STARR-seq mESC enhancer starr_09284 Neighboring gene nexilin Neighboring gene STARR-positive B cell enhancer mm9_chr3:151922476-151922776

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4. Inoue M, et al. Acta Neuropathol, 2023 Feb. PMID 36512060
    2. HLJ1 amplifies endotoxin-induced sepsis severity by promoting IL-12 heterodimerization in macrophages. Luo WJ, et al. Elife, 2022 Aug 19. PMID 35983991, Free PMC Article
    3. Genetic Deletion of HLJ1 Does Not Affect Blood Coagulation in Mice. Hsu MC, et al. Int J Mol Sci, 2022 Feb 13. PMID 35216179, Free PMC Article
    4. Functional proteomics, human genetics and cancer biology of GIPC family members. Katoh M. Exp Mol Med, 2013 Jun 7. PMID 23743496, Free PMC Article
    5. Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure. Weihl CC, et al. Acta Neuropathol, 2023 Jan. PMID 36264506, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4.
      Title: Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4.
    2. Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.
      Title: Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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 MGI

    Function Evidence Code Pubs
    enables ATPase activator activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ATPase activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein-folding chaperone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein-folding chaperone binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein-folding chaperone binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables unfolded protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables unfolded protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in chaperone cofactor-dependent protein refolding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein folding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Z disc ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Z disc ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    dnaJ homolog subfamily B member 4
    Names
    DnaJ (Hsp40) homolog, subfamily B, member 4

    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.

    mRNA and Protein(s)

    1. NM_001356363.2 → NP_001343292.1  dnaJ homolog subfamily B member 4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC123075
      Consensus CDS
      CCDS17915.1
      UniProtKB/Swiss-Prot
      Q3TS92, Q9D832, Q9D9U2
      Conserved Domains (1) summary
      COG0484
      Location:1 → 332
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    2. NM_001356364.2 → NP_001343293.1  dnaJ homolog subfamily B member 4 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC123075
      Conserved Domains (1) summary
      cd10747
      Location:43 → 205
      DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40

    3. NM_025926.6 → NP_080202.1  dnaJ homolog subfamily B member 4 isoform 1

      See identical proteins and their annotated locations for NP_080202.1

      Status: VALIDATED

      Source sequence(s)
      AC123075
      Consensus CDS
      CCDS17915.1
      UniProtKB/Swiss-Prot
      Q3TS92, Q9D832, Q9D9U2
      Related
      ENSMUSP00000053916.7, ENSMUST00000050073.13
      Conserved Domains (1) summary
      COG0484
      Location:1 → 332
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    4. NM_027287.6 → NP_081563.2  dnaJ homolog subfamily B member 4 isoform 1

      See identical proteins and their annotated locations for NP_081563.2

      Status: VALIDATED

      Source sequence(s)
      AC123075
      Consensus CDS
      CCDS17915.1
      UniProtKB/Swiss-Prot
      Q3TS92, Q9D832, Q9D9U2
      Related
      ENSMUSP00000114356.2, ENSMUST00000144950.8
      Conserved Domains (1) summary
      COG0484
      Location:1 → 332
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      151887217..151915720 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036163237.1 → XP_036019130.1  dnaJ homolog subfamily B member 4 isoform X1

      UniProtKB/Swiss-Prot
      Q3TS92, Q9D832, Q9D9U2
      Conserved Domains (1) summary
      COG0484
      Location:1 → 332
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D832.1 GenPept UniProtKB/Swiss-Prot:Q9D832

    Gene LinkOut

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

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