DNAJB8 DnaJ heat shock protein family (Hsp40) member B8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAJB8provided by HGNC
Official Full Name: DnaJ heat shock protein family (Hsp40) member B8provided by HGNC
Primary source: HGNC:HGNC:23699
See related: Ensembl:ENSG00000179407 MIM:611337; AllianceGenome:HGNC:23699
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: DJ6; CT156
Summary: The protein encoded by this gene belongs to the DNAJ/HSP40 family of proteins that regulate chaperone activity. This family member suppresses aggregation and toxicity of polyglutamine proteins, and the C-terminal tail is essential for this activity. It has been implicated as a cancer-testis antigen and as a cancer stem-like cell antigen involved in renal cell carcinoma. [provided by RefSeq, Jun 2012]
Expression: Restricted expression toward testis (RPKM 16.6) See more
Orthologs: mouse all
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Genomic context

Location:: 3q21.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (128462437..128466890, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (131204036..131208509, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (128181280..128185733, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

DNAJB8 oligomerization is mediated by an aromatic-rich motif that is dispensable for substrate activity.
Title: DNAJB8 oligomerization is mediated by an aromatic-rich motif that is dispensable for substrate activity.
DNAJB8 in small extracellular vesicles promotes Oxaliplatin resistance through TP53/MDR1 pathway in colon cancer.
Title: DNAJB8 in small extracellular vesicles promotes Oxaliplatin resistance through TP53/MDR1 pathway in colon cancer.
Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth.
Title: Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth.
Regulatory inter-domain interactions influence Hsp70 recruitment to the DnaJB8 chaperone.
Title: Regulatory inter-domain interactions influence Hsp70 recruitment to the DnaJB8 chaperone.
DNAJB8 is a central and versatile player in the protein aggregation and degradation system.DNAJB8 protein keeps Parkin C289G mutant protein in a soluble, degradation-competent form.
Title: Versatile members of the DNAJ family show Hsp70 dependent anti-aggregation activity on RING1 mutant parkin C289G.
Results show that DNAJB8 expression is induced by heat shock stress which increases side population cells and cancer stem-like cells.
Title: Cellular stress induces cancer stem-like cells through expression of DNAJB8 by activation of heat shock factor 1.
Taken together, the results indicate that DNAJB8 is expressed and has role in CRC CSC/CIC and that DNAJB8 is a novel target of CRC CSC/CIC-targeting immunotherapy.
Title: Heat shock protein DNAJB8 is a novel target for immunotherapy of colon cancer-initiating cells.
The mechanism of DNAJB6 and DNAJB8 is suppression of polyQ protein aggregation by directly binding the polyQ tract.
Title: The DNAJB6 and DNAJB8 protein chaperones prevent intracellular aggregation of polyglutamine peptides.
Cancer stem-like cell (CSC) maintenance and that it offers a candidate for CSC-targeting immunotherapy in renal cell carcinoma
Title: HSP DNAJB8 controls tumor-initiating ability in renal cancer stem-like cells.
DNAJB6b and DNAJB8 are superior suppressors of aggregation and toxicity of disease-associated polyglutamine proteins.
Title: A DNAJB chaperone subfamily with HDAC-dependent activities suppresses toxic protein aggregation.

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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
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Hsp70 protein binding	IEA Inferred from Electronic Annotation more info
enables protein folding chaperone	IBA Inferred from Biological aspect of Ancestor more info
enables protein folding chaperone	IDA Inferred from Direct Assay 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
enables unfolded protein binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in chaperone-mediated protein folding	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within chaperone-mediated protein folding	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of inclusion body assembly	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: dnaJ homolog subfamily B member 8

Names: DnaJ (Hsp40) homolog, subfamily B, member 8; testicular tissue protein Li 56

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_153330.6 → NP_699161.1 dnaJ homolog subfamily B member 8

See identical proteins and their annotated locations for NP_699161.1

Status: REVIEWED

Source sequence(s)

AC080005, KF459586

Consensus CDS

CCDS3048.1

UniProtKB/Swiss-Prot

B3KWV7, Q8NHS0

UniProtKB/TrEMBL

A0A140VJI2

Related

ENSP00000316053.3, ENST00000319153.4

Conserved Domains (1) summary

COG0484
Location:3 → 106

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