DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6 [Homo sapiens] - Gene

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Summary

Official Symbol: DNAJB6provided by HGNC
Official Full Name: DnaJ (Hsp40) homolog, subfamily B, member 6provided by HGNC
Primary source: HGNC:14888
See related: Ensembl:ENSG00000105993; HPRD:07107; MIM:611332; Vega:OTTHUMG00000157242
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: DJ4; MRJ; DnaJ; HSJ2; HHDJ1; HSJ-2; MSJ-1; LGMD1E; MGC1152; FLJ42837; MGC117297; DKFZp566D0824
Summary: This gene encodes a member of the DNAJ protein family. 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. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 7q36.3

Sequence :: Chromosome: 7; NC_000007.13 (157129710..157210133)

See DNAJB6 in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Mutations within the Pro96Arg domain of DNAJB6 are a novel cause of dominantly-inherited myopathy.
Title: Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.
the interaction between urokinase receptor and heat shock protein MRJ enhances cell adhesion
Title: Interaction between urokinase receptor and heat shock protein MRJ enhances cell adhesion.
DNAJB6 induces degradation of beta-catenin and causes partial reversal of mesenchymal phenotype
Title: DNAJB6 induces degradation of beta-catenin and causes partial reversal of mesenchymal phenotype.
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.
we report the up-regulation of Mrj protein in M-phase of HeLa cells implicating its role in mitosis related activities.
Title: Cell cycle specific expression and nucleolar localization of human J-domain containing co-chaperone Mrj.
DnaJB6 is necessary for translocation of Slfn1 into the nucleus, where Slfn1 down-regulates cyclin D1, induces cell-cycle arrest and programmes a quiescent state of T-cells
Title: The Hsp40 family chaperone protein DnaJB6 enhances Schlafen1 nuclear localization which is critical for promotion of cell-cycle arrest in T-cells.
Large isoform of MRJ(L), DNAJB6, is a nuclear protein that is lost in breast cancer, that regulates several key players in tumor formation and metastasis, and that is functionally able to retard tumor growth.
Title: Large isoform of MRJ (DNAJB6) reduces malignant activity of breast cancer.
msj-1 gene might be conserved among vertebrates and might exert fundamental functions in reproduction.
Title: Structure of msj-1 gene in mice and humans: a possible role in the regulation of male reproduction.
MRJ has a relevant functional role in neurons.
Title: Characterization of a brain-enriched chaperone, MRJ, that inhibits Huntingtin aggregation and toxicity independently.
Role of Hsp40 co-chaperone Hdj-1 in CFTR turnover with HSP70
Title: The human DnaJ homologue (Hdj)-1/heat-shock protein (Hsp) 40 co-chaperone is required for the in vivo stabilization of the cystic fibrosis transmembrane conductance regulator by Hsp70.

Submit: New GeneRIF Correction See all (11)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Muscular dystrophy, limb-girdle, type 1E

MIM: 603511

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Products	Interactant	Other Gene	Source	Pubs	Description
O75190	Q9HCU9	BRMS1	HPRD	PubMed
O75190	P05783	KRT18	HPRD	PubMed
O75190	P40818	USP8	HPRD	PubMed
BioGRID:115360	BioGRID:114372	ALKBH1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:115360	BioGRID:971788	EBNA-LP	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115360	BioGRID:115106	HDAC4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:115360	BioGRID:115330	HDAC6	BioGRID	PubMed	Affinity Capture-Western
BioGRID:115360	BioGRID:110073	KRT18	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:115360	BioGRID:110694	MYC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115360	BioGRID:111308	PIK3CA	BioGRID	PubMed	Two-hybrid
BioGRID:115360	BioGRID:116593	SIRT2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:115360	BioGRID:113010	TP53	BioGRID	PubMed	Affinity Capture-Western
BioGRID:115360	BioGRID:114181	TP63	BioGRID	PubMed	Affinity Capture-Western
BioGRID:115360	BioGRID:113014	TP73	BioGRID	PubMed	Affinity Capture-Western
BioGRID:115360	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
ATPase activator activity	IDA Inferred from Direct Assay more info	PubMed
chaperone binding	IDA Inferred from Direct Assay more info	PubMed
heat shock protein binding	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
unfolded protein binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
intermediate filament organization	IDA Inferred from Direct Assay more info	PubMed
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
positive regulation of ATPase activity	IDA Inferred from Direct Assay more info	PubMed
protein folding	IDA Inferred from Direct Assay more info	PubMed
response to unfolded protein	NAS Non-traceable Author Statement more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
NOT nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: dnaJ homolog subfamily B member 6

Names: dnaJ homolog subfamily B member 6; DnaJ-like 2 protein; heat shock protein J2

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NCBI Reference Sequences (RefSeq)

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

NG_032573.1 RefSeqGene

Range

5001..85424

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005494.2 → NP_005485.1 dnaJ homolog subfamily B member 6 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' coding region and has a distinct 3' UTR, compared to transcript variant 1. The resulting isoform (b) is shorter and distinct, compared to isoform a.

Source sequence(s)

AL136707

Consensus CDS

CCDS47755.1

UniProtKB/Swiss-Prot

O75190

Related

ENSP00000397556, OTTHUMP00000211815, ENST00000429029, OTTHUMT00000348120

Conserved Domains (1) summary

cd06257
Location:3 – 58
Blast Score: 237

DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
NM_058246.3 → NP_490647.1 dnaJ homolog subfamily B member 6 isoform a

Status: REVIEWED

Description

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

Source sequence(s)

BC002446

Consensus CDS

CCDS5946.1

UniProtKB/Swiss-Prot

O75190

Related

ENSP00000262177, OTTHUMP00000211814, ENST00000262177, OTTHUMT00000348119

Conserved Domains (1) summary

cd06257
Location:3 – 58
Blast Score: 244

DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of...

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000007.13 Reference GRCh37.p5 Primary Assembly

Range

157129710..157210133

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

150859705..150940410

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

156359018..156439320

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC006372.2	AAS07521.1
genomic	AC079306.7	AAS07392.1
		AAS07393.1
genomic	CH236954.1	EAL23923.1
		EAL23924.1
genomic	CH471149.1	EAX04570.1
		EAX04571.1
mRNA	AB014888.1	BAA32209.1
mRNA	AB015798.1	BAA88769.1
mRNA	AB015799.1	BAA88770.1
mRNA	AB209859.1	BAD93096.1
mRNA	AF060703.1	AAF21257.1
mRNA	AF075601.1	AAD43194.1
mRNA	AK055429.1	None
mRNA	AK093837.1	None
mRNA	AK124827.1	None
mRNA	AK223601.1	BAD97321.1
mRNA	AK291953.1	BAF84642.1
mRNA	AK293025.1	BAF85714.1
mRNA	AK297497.1	BAG59911.1
mRNA	AK297796.1	BAG60135.1
mRNA	AK297989.1	BAG60297.1
mRNA	AK301152.1	BAG62743.1
mRNA	AL136707.1	CAB66642.1
mRNA	AL832124.1	None
mRNA	BC000177.2	AAH00177.1
mRNA	BC002446.2	AAH02446.1
mRNA	BC018175.1	None
mRNA	BC043270.1	AAH43270.1
mRNA	BC110289.1	None
mRNA	CR533498.1	CAG38529.1
mRNA	EU075177.1	ABU54861.1
other-genetic	AM392548.1	CAL37426.1
other-genetic	AM392741.1	CAL37619.1
other-genetic	AM393348.1	CAL38226.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
O75190.2	GenPept	UniProtKB/Swiss-Prot:O75190
Q49A72	GenPept	UniProtKB/TrEMBL:Q49A72
Q75MP3	GenPept	UniProtKB/TrEMBL:Q75MP3