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    DNAJB9 DnaJ heat shock protein family (Hsp40) member B9 [ Homo sapiens (human) ]

    Gene ID: 4189, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DNAJB9provided by HGNC
    Official Full Name
    DnaJ heat shock protein family (Hsp40) member B9provided by HGNC
    Primary source
    HGNC:HGNC:6968
    See related
    Ensembl:ENSG00000128590 MIM:602634; AllianceGenome:HGNC:6968
    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
    MDG1; ERdj4; MDG-1; MST049; MSTP049
    Summary
    This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. This gene is a member of the type 2 subgroup of DnaJ proteins. The encoded protein is localized to the endoplasmic reticulum. This protein is induced by endoplasmic reticulum stress and plays a role in protecting stressed cells from apoptosis. [provided by RefSeq, Dec 2010]
    Expression
    Ubiquitous expression in thyroid (RPKM 55.6), adrenal (RPKM 35.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DNAJB9 in Genome Data Viewer
    Location:
    7q31.1; 14q24.2-q24.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (108569874..108574850)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (109894482..109899458)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (108210318..108215294)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene patatin like phospholipase domain containing 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26503 Neighboring gene uncharacterized LOC124901722 Neighboring gene THAP domain containing 5 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:108209746-108210473 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:108219440-108219950 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:108219951-108220459 Neighboring gene MPRA-validated peak6685 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:108233899-108234540 Neighboring gene uncharacterized LOC105375448 Neighboring gene sorbitol dehydrogenase pseudogene

    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. Assignment of the microvascular endothelial differentiation gene 1 (MDG1) to human chromosome band 14q24.2-->q24.3 by fluorescence in situ hybridization. Pröls F, et al. Cytogenet Cell Genet, 1997. PMID 9533036
    2. Expression of DNAJB9 and some other genes is more sensitive to SWCNTs in normal human astrocytes than glioblastoma cells. Minchenko DO, et al. Endocr Regul, 2023 Jan 1. PMID 37561833
    3. Pharmacogenomics and analogues of the antitumour agent N6-isopentenyladenosine. Colombo F, et al. Int J Cancer, 2009 May 1. PMID 19123479
    4. Serum levels of DNAJB9 are elevated in fibrillary glomerulonephritis patients. Nasr SH, et al. Kidney Int, 2019 May. PMID 31010480
    5. New developments in the diagnosis of fibrillary glomerulonephritis. Nasr SH, et al. Kidney Int, 2019 Sep. PMID 31227146

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expression of DNAJB9 and some other genes is more sensitive to SWCNTs in normal human astrocytes than glioblastoma cells.
      Title: Expression of DNAJB9 and some other genes is more sensitive to SWCNTs in normal human astrocytes than glioblastoma cells.
    2. DNAJB9 suppresses the metastasis of triple-negative breast cancer by promoting FBXO45-mediated degradation of ZEB1.
      Title: DNAJB9 suppresses the metastasis of triple-negative breast cancer by promoting FBXO45-mediated degradation of ZEB1.
    3. DNAJB9-positive monotypic fibrillary glomerulonephritis is not associated with monoclonal gammopathy in the vast majority of patients.
      Title: DNAJB9-positive monotypic fibrillary glomerulonephritis is not associated with monoclonal gammopathy in the vast majority of patients.
    4. Clinicopathological characteristics and outcome of patients with fibrillary glomerulonephritis: DNAJB9 is a valuable histologic marker.
      Title: Clinicopathological characteristics and outcome of patients with fibrillary glomerulonephritis: DNAJB9 is a valuable histologic marker.
    5. Hepatic DNAJB9 Drives Anabolic Biasing to Reduce Steatosis and Obesity.
      Title: Hepatic DNAJB9 Drives Anabolic Biasing to Reduce Steatosis and Obesity.
    6. Long non-coding RNA SNHG5 regulates chemotherapy resistance through the miR-32/DNAJB9 axis in acute myeloid leukemia.
      Title: Long non-coding RNA SNHG5 regulates chemotherapy resistance through the miR-32/DNAJB9 axis in acute myeloid leukemia.
    7. New developments in the diagnosis of fibrillary glomerulonephritis.
      Title: New developments in the diagnosis of fibrillary glomerulonephritis.
    8. Targeting DNAJB9, a novel ER luminal co-chaperone, to rescue DeltaF508-CFTR.
      Title: Targeting DNAJB9, a novel ER luminal co-chaperone, to rescue ΔF508-CFTR.
    9. these observations support a competition model whereby waning ER stress passively partitions ERdj4 and BiP to IRE1(LD) to initiate active repression of UPR signalling.
      Title: Unstructured regions in IRE1α specify BiP-mediated destabilisation of the luminal domain dimer and repression of the UPR.
    10. Study detected a 4-fold higher abundance of serum DNAJB9 in fibrillary glomerulonephritis (FGN) patients when compared to controls, including patients with other glomerular diseases. Serum DNAJB9 levels were also negatively associated with estimated glomerular filtration rate in patients with FGN.
      Title: Serum levels of DNAJB9 are elevated in fibrillary glomerulonephritis patients.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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
    Large-scale genome-wide association study of Asian population reveals genetic factors in FRMD4A and other loci influencing smoking initiation and nicotine dependence.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp564F1862

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Hsp70 protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables misfolded protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables misfolded 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 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein-folding chaperone binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in ERAD pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ERAD pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of IRE1-mediated unfolded protein response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of immunoglobulin production ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to endoplasmic reticulum stress ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to unfolded protein IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum lumen IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in nucleolus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    dnaJ homolog subfamily B member 9
    Names
    DnaJ (Hsp40) homolog, subfamily B, member 9
    ER-resident protein ERdj4
    endoplasmic reticulum DNA J domain-containing protein 4
    endoplasmic reticulum DnaJ homolog 4
    microvascular endothelial differentiation gene 1 protein

    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_012328.3 → NP_036460.1  dnaJ homolog subfamily B member 9 precursor

      See identical proteins and their annotated locations for NP_036460.1

      Status: REVIEWED

      Source sequence(s)
      AB026908, DA202575
      Consensus CDS
      CCDS5752.1
      UniProtKB/Swiss-Prot
      Q9UBS3
      UniProtKB/TrEMBL
      Q6FIF1
      Related
      ENSP00000249356.3, ENST00000249356.4
      Conserved Domains (1) summary
      cl28246
      Location:26 → 136
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      108569874..108574850
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      109894482..109899458
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UBS3.1 GenPept UniProtKB/Swiss-Prot:Q9UBS3

    Gene LinkOut

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

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