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

Gene ID: 25822, updated on 5-Mar-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
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Genomic context

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Location:
9p13.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (34989745..34998900)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (35008927..35018082)
105.20220307 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: 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. 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 (29) 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)

Genotypes

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_2023_10

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

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