DNAJB1 DnaJ heat shock protein family (Hsp40) member B1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAJB1provided by HGNC
Official Full Name: DnaJ heat shock protein family (Hsp40) member B1provided by HGNC
Primary source: HGNC:HGNC:5270
See related: Ensembl:ENSG00000132002 MIM:604572; AllianceGenome:HGNC:5270
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: Hdj1; Sis1; HSPF1; Hsp40; RSPH16B
Summary: This gene encodes a member of the DnaJ or Hsp40 (heat shock protein 40 kD) family of proteins. 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. The encoded protein is a molecular chaperone that stimulates the ATPase activity of Hsp70 heat-shock proteins in order to promote protein folding and prevent misfolded protein aggregation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Expression: Ubiquitous expression in esophagus (RPKM 87.8), adrenal (RPKM 84.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.12

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (14514769..14560391, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (14641477..14655999, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (14625581..14640083, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Increased Protein Kinase A Activity Induces Fibrolamellar Hepatocellular Carcinoma Features Independent of DNAJB1.
Title: Increased Protein Kinase A Activity Induces Fibrolamellar Hepatocellular Carcinoma Features Independent of DNAJB1.
DNAJB1-PRKACA in HEK293T cells induces LINC00473 overexpression that depends on PKA signaling.
Title: DNAJB1-PRKACA in HEK293T cells induces LINC00473 overexpression that depends on PKA signaling.
DNAJB11 predicts a poor prognosis and is associated with immune infiltration in thyroid carcinoma: a bioinformatics analysis.
Title: DNAJB11 predicts a poor prognosis and is associated with immune infiltration in thyroid carcinoma: a bioinformatics analysis.
Defective internal allosteric network imparts dysfunctional ATP/substrate-binding cooperativity in oncogenic chimera of protein kinase A.
Title: Defective internal allosteric network imparts dysfunctional ATP/substrate-binding cooperativity in oncogenic chimera of protein kinase A.
HSP40 proteins use class-specific regulation to drive HSP70 functional diversity.
Title: HSP40 proteins use class-specific regulation to drive HSP70 functional diversity.
Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock Proteins.
Title: Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock Proteins.
DNAJB1-PRKACA fusions occur in oncocytic pancreatic and biliary neoplasms and are not specific for fibrolamellar hepatocellular carcinoma.
Title: DNAJB1-PRKACA fusions occur in oncocytic pancreatic and biliary neoplasms and are not specific for fibrolamellar hepatocellular carcinoma.
Dimeric Hdj1 then facilitates dimerization of Hsp70 and formation of a heterotetrameric Hsp70-Hsp40 complex. Our results provide a kinetic view of the conformational cycle of Hsp70 and reveal the importance of the dynamic nature of Hsp70 for its function.
Title: Kinetics of the conformational cycle of Hsp70 reveals the importance of the dynamic and heterogeneous nature of Hsp70 for its function.
The expression levels of TPD52 and DNAJB1 were elevated in cholangiocarcinoma (CCA) cell lines, tissues and bile samples, suggesting that these proteins may contribute to tumor pathogenesis. In addition, the expression levels of TPD52 and DNAJB1 were found to be closely associated with the clinical parameters and prognosis of patients with CCA.
Title: Identification of TPD52 and DNAJB1 as two novel bile biomarkers for cholangiocarcinoma by iTRAQ‑based quantitative proteomics analysis.
The DI/VF sequence motif of BDAJB6 acts as a crucial switch that determines the state of the entire Hsp40-Hsp70 machine and eventually chaperone activity and cell death or survival.
Title: Unraveling the structure and dynamics of the human DNAJB6b chaperone by NMR reveals insights into Hsp40-mediated proteostasis.

Submit: New GeneRIF Correction See all GeneRIFs (60)

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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of DnaJ (Hsp40) homolog, subfamily B, member 1 (DNAJB1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	HIV-1 Subtype C Nef upregulates the expression of Hsp40 in HIV-1 infected CEM cells and enhances the increased translocation of Hsp40 into the nucleus	PubMed
	nef	HIV-1 subtype C Nef interacts with Hsp40 in immunoprecipitation and immunofluorescence staining experiments	PubMed
	nef	HIV-1 Nef interacts with Hsp40, leading to increased Hsp40 translocation to the nucleus of infected cells and facilitation of viral gene expression by complex formation of Hsp40 with the cdk9-associated transcription complex	PubMed
Tat	tat	HIV-1 Tat specifically associates with DNAJB1 promoter to upregulate DNAJB1 expression in T cells	PubMed
capsid	gag	HSP40B1 (DNAJB1) inhibits HIV-1 production as measured by the level of viral p24 capsid in the culture supernatant	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-11979 (e-PCR)
- UniSTS:38555

RH11583 (e-PCR)
- UniSTS:19653

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 ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables Hsp70 protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables Hsp70 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables cadherin binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein folding chaperone	IEA Inferred from Electronic Annotation more info
enables protein-folding chaperone binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription corepressor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription corepressor activity	IDA Inferred from Direct Assay more info	PubMed
enables transcription regulator inhibitor activity	IDA Inferred from Direct Assay 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 cellular response to heat	IDA Inferred from Direct Assay more info	PubMed
involved_in chaperone cofactor-dependent protein refolding	IBA Inferred from Biological aspect of Ancestor more info
involved_in chaperone cofactor-dependent protein refolding	IDA Inferred from Direct Assay more info	PubMed
involved_in forebrain development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of inclusion body assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ATP-dependent activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cellular response to heat	TAS Traceable Author Statement more info
involved_in response to unfolded protein	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	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 dendritic spine	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	HDA more info	PubMed
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
located_in sperm head	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dnaJ homolog subfamily B member 1

Names: DnaJ (Hsp40) homolog, subfamily B, member 1; dnaJ protein homolog 1; heat shock 40 kDa protein 1; human DnaJ protein 1; radial spoke 16 homolog B

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)

NM_001300914.2 → NP_001287843.1 dnaJ homolog subfamily B member 1 isoform 2

See identical proteins and their annotated locations for NP_001287843.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate 5' terminal exon, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same isoform (2).

Source sequence(s)

AC012318, BC013157, D49547, DA377896

Consensus CDS

CCDS74295.1

UniProtKB/TrEMBL

A0A7I2V3K7

Related

ENSP00000471073.2, ENST00000598235.2

Conserved Domains (1) summary

cd10747
Location:62 → 226

DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40
NM_001313964.2 → NP_001300893.1 dnaJ homolog subfamily B member 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains alternate 5' terminal exons, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same isoform (2).

Source sequence(s)

AC009004, AC012318

Consensus CDS

CCDS74295.1

UniProtKB/TrEMBL

A0A7I2V3K7

Related

ENSP00000444212.1, ENST00000396969.8

Conserved Domains (1) summary

cd10747
Location:62 → 226

DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40
NM_006145.3 → NP_006136.1 dnaJ homolog subfamily B member 1 isoform 1

See identical proteins and their annotated locations for NP_006136.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

BC013157, D49547, DB454482

Consensus CDS

CCDS12312.1

UniProtKB/Swiss-Prot

B4DX52, P25685

UniProtKB/TrEMBL

Q6FHS4, Q6FI51

Related

ENSP00000254322.1, ENST00000254322.3

Conserved Domains (1) summary

COG0484
Location:1 → 340

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]