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    DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 [ Homo sapiens (human) ]

    Gene ID: 25822, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DNAJB5provided by HGNC
    Official Full Name
    DnaJ heat shock protein family (Hsp40) member B5provided by HGNC
    Primary source
    HGNC:HGNC:14887
    See related
    Ensembl:ENSG00000137094 MIM:611328; AllianceGenome:HGNC:14887
    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
    Hsc40
    Summary
    This gene encodes a member of the DNAJ heat shock protein 40 family of co-chaperone proteins. The encoded protein contains an N-terminal DNAJ domain and a C-terminal substrate binding domain but lacks the cysteine-rich domain found in other DNAJ family members. In mice, a multi-protein complex containing this protein, thioredoxin 1, and histone deacetylase 4, serves as a master negative regulator of cardiac hypertrophy. [provided by RefSeq, Mar 2017]
    Expression
    Broad expression in heart (RPKM 17.5), brain (RPKM 13.1) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DNAJB5 in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (34989745..34998900)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (35008927..35018082)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (34989742..34998897)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene PHD finger protein 24 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:34926275-34926796 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:34926797-34927317 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19857 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28316 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:34989927-34990856 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:34990857-34991786 Neighboring gene Sharpr-MPRA regulatory region 8519 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:34992717-34993646 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:34994577-34995506 Neighboring gene DNAJB5 divergent transcript Neighboring gene SPATA31 subfamily D member 1 pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:35003321-35003821 Neighboring gene SYF2 pre-mRNA splicing factor pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Levels of DNAJB family members (HSP40) correlate with disease onset in patients with spinocerebellar ataxia type 3. Zijlstra MP, et al. Eur J Neurosci, 2010 Sep. PMID 20726892
    2. Critical role of zebrafish dnajb5 in myocardial proliferation and regeneration. Pang M, et al. J Genet Genomics, 2020 Aug. PMID 33191150
    3. Human DNAJ in cancer and stem cells. Sterrenberg JN, et al. Cancer Lett, 2011 Dec 22. PMID 21925790
    4. Hsc40, a new member of the hsp40 family, exhibits similar expression profile to that of hsc70 in mammalian cells. Chen MS, et al. Gene, 1999 Oct 1. PMID 10570961
    5. A DNAJB chaperone subfamily with HDAC-dependent activities suppresses toxic protein aggregation. Hageman J, et al. Mol Cell, 2010 Feb 12. PMID 20159555

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Critical role of zebrafish dnajb5 in myocardial proliferation and regeneration.
      Title: Critical role of zebrafish dnajb5 in myocardial proliferation and regeneration.
    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

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables unfolded protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in chaperone cofactor-dependent protein refolding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to unfolded protein IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    dnaJ homolog subfamily B member 5
    Names
    DnaJ (Hsp40) homolog, subfamily B, member 5
    heat shock cognate 40
    heat shock protein Hsp40-2
    heat shock protein Hsp40-3
    heat shock protein cognate 40

    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_053054.1 RefSeqGene

      Range
      5377..14060
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135004.3 → NP_001128476.3  dnaJ homolog subfamily B member 5 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. Variants 2 and 6 encode the same isoform (2), which is shorter than isoform 1.
      Source sequence(s)
      AL355377
      Consensus CDS
      CCDS47960.3
      UniProtKB/TrEMBL
      A0A7I2RN43
      Related
      ENSP00000404079.4, ENST00000453597.8
      Conserved Domains (1) summary
      COG0484
      Location:34 → 377
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    2. NM_001135005.3 → NP_001128477.1  dnaJ homolog subfamily B member 5 isoform 1

      See identical proteins and their annotated locations for NP_001128477.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AA434108, AK023253, AK299647, AL355377
      Consensus CDS
      CCDS47959.1
      UniProtKB/Swiss-Prot
      O75953
      Related
      ENSP00000413684.2, ENST00000454002.6
      Conserved Domains (1) summary
      COG0484
      Location:72 → 415
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    3. NM_001349723.3 → NP_001336652.1  dnaJ homolog subfamily B member 5 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Both variants 1 and 4 encode the same isoform (1).
      Source sequence(s)
      AL355377
      Consensus CDS
      CCDS47959.1
      Related
      ENSP00000507741.1, ENST00000682809.1
      Conserved Domains (1) summary
      COG0484
      Location:72 → 415
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    4. NM_001349724.2 → NP_001336653.1  dnaJ homolog subfamily B member 5 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses an alternate translation initiation codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1. Both variants 3 and 5 encode the same isoform (3).
      Source sequence(s)
      AI122943, AL355377
      Consensus CDS
      CCDS35007.1
      UniProtKB/Swiss-Prot
      B3KN14, B4DSA6, J3KQM9, J3KR08, O75953, Q5T656, Q8TDR7, Q96EM4
      Related
      ENSP00000441999.1, ENST00000545841.5
      Conserved Domains (1) summary
      COG0484
      Location:1 → 343
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    5. NM_001349725.2 → NP_001336654.2  dnaJ homolog subfamily B member 5 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. Variants 2 and 6 encode the same isoform (2), which is shorter than isoform 1.
      Source sequence(s)
      AL355377
      Consensus CDS
      CCDS47960.3
      UniProtKB/TrEMBL
      A0A7I2RN43
      Conserved Domains (1) summary
      COG0484
      Location:34 → 377
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    6. NM_012266.6 → NP_036398.3  dnaJ homolog subfamily B member 5 isoform 3

      See identical proteins and their annotated locations for NP_036398.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translation initiation codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1. Both variants 3 and 5 encode the same isoform (3).
      Source sequence(s)
      AA434108, AK023253, AK314671, AL355377
      Consensus CDS
      CCDS35007.1
      UniProtKB/Swiss-Prot
      B3KN14, B4DSA6, J3KQM9, J3KR08, O75953, Q5T656, Q8TDR7, Q96EM4
      Related
      ENSP00000312517.5, ENST00000312316.9
      Conserved Domains (1) summary
      COG0484
      Location:1 → 343
      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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      34989745..34998900
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423160.1 → XP_047279116.1  dnaJ homolog subfamily B member 5 isoform X1

      UniProtKB/TrEMBL
      A0A7I2RN43

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      35008927..35018082
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75953.1 GenPept UniProtKB/Swiss-Prot:O75953

    Gene LinkOut

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

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