DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAJB6provided by HGNC
Official Full Name: DnaJ heat shock protein family (Hsp40) member B6provided by HGNC
Primary source: HGNC:HGNC:14888
See related: Ensembl:ENSG00000105993 MIM:611332; AllianceGenome:HGNC:14888
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; LGMD1D; LGMD1E; LGMDD1
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]
Annotation information: Note: We recognize that OMIM uses LGMD1E to refer to the locus on chromosome 7. There are many citations, however, including PubMed 8533766, 15316618, 20682716, and 21376592 which define LGMD1D as the locus on chromosome 7. We are retaining the usage of the HUGO Gene Nomenclature Committee (HGNC). [25 Nov 2014]
Expression: Ubiquitous expression in testis (RPKM 36.6), bone marrow (RPKM 32.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q36.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (157337004..157417439)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (158524848..158605388)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (157129698..157210133)

Chromosome 7 - NC_000007.14 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?

Human milk exosome-derived circDNAJB6 improves bronchopulmonary dysplasia model by promoting DNAJB6 gene transcription.
Title: Human milk exosome-derived circDNAJB6 improves bronchopulmonary dysplasia model by promoting DNAJB6 gene transcription.
MUC1 promotes lymph node metastasis in esophageal squamous cell carcinoma by downregulating DNAJB6 expression.
Title: MUC1 promotes lymph node metastasis in esophageal squamous cell carcinoma by downregulating DNAJB6 expression.
The HSP40 family chaperone isoform DNAJB6b prevents neuronal cells from tau aggregation.
Title: The HSP40 family chaperone isoform DNAJB6b prevents neuronal cells from tau aggregation.
The C-terminal domain of the antiamyloid chaperone DNAJB6 binds to amyloid-beta peptide fibrils and inhibits secondary nucleation.
Title: The C-terminal domain of the antiamyloid chaperone DNAJB6 binds to amyloid-β peptide fibrils and inhibits secondary nucleation.
miR-632 Induces DNAJB6 Inhibition Stimulating Endothelial-to-Mesenchymal Transition and Fibrosis in Marfan Syndrome Aortopathy.
Title: miR-632 Induces DNAJB6 Inhibition Stimulating Endothelial-to-Mesenchymal Transition and Fibrosis in Marfan Syndrome Aortopathy.
DNAJB6 suppresses alpha-synuclein induced pathology in an animal model of Parkinson's disease.
Title: DNAJB6 suppresses alpha-synuclein induced pathology in an animal model of Parkinson's disease.
A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy.
Title: A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy.
Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy.
Title: Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy.
Sis1 potentiates the stress response to protein aggregation and elevated temperature.
Title: Sis1 potentiates the stress response to protein aggregation and elevated temperature.
Mutations in the J domain of DNAJB6 cause dominant distal myopathy.
Title: Mutations in the J domain of DNAJB6 cause dominant distal myopathy.

Submit: New GeneRIF Correction See all GeneRIFs (61)

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

Associated conditions

Description	Tests
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) MedGen: C4721885 OMIM: 603511 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-10-29) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-10-29) ClinGen Genome Curation Page

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 6 (DNAJB6) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	The expression of HSP40B6 (DNAJB6) inhibits HIV-1 Rev expression at the posttranscriptional levels, leading to the reduction of HIV-1 RNA accumulation	PubMed
Vpr	vpr	The nuclear localization of HIV-1 Vpr is facilitated by DNAJB6 (MRJ-L)	PubMed
capsid	gag	HSP40B6 (DNAJB6) inhibits HIV-1 production as measured by the level of viral p24 capsid in the culture supernatant. The HSP40B6 (1-97) mutant lacking most of the C-terminal portion is more potent in inhibiting HIV-1 production than its wild-type	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

RH35810 (e-PCR)
- UniSTS:47880

L17763 (e-PCR)
- UniSTS:14881

RH27398 (e-PCR)
- UniSTS:88369

Bda72a07 (e-PCR)
- UniSTS:28285

RH24939 (e-PCR)
- UniSTS:85936

GDB:4585419 (e-PCR)
- UniSTS:725

STS-AA025061 (e-PCR)
- UniSTS:1501

Clone Names

MGC1152, FLJ42837, MGC117297, DKFZp566D0824

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 DNA binding	IEA Inferred from Electronic Annotation more info
enables Hsp70 protein binding	IEA Inferred from Electronic Annotation more info
enables heat shock protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein folding chaperone	IBA Inferred from Biological aspect of Ancestor more info
enables protein-folding chaperone binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein-folding chaperone binding	IDA Inferred from Direct Assay more info	PubMed
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 actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in chaperone-mediated protein folding	IBA Inferred from Biological aspect of Ancestor more info
involved_in chorio-allantoic fusion	IEA Inferred from Electronic Annotation more info
involved_in chorion development	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix organization	IEA Inferred from Electronic Annotation more info
involved_in intermediate filament organization	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cysteine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of inclusion body assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of inclusion body assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein folding	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to nucleus	IEA Inferred from Electronic Annotation more info
involved_in regulation of cellular response to heat	TAS Traceable Author Statement more info
involved_in regulation of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in syncytiotrophoblast cell differentiation involved in labyrinthine layer development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
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 cytosol	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
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
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: dnaJ homolog subfamily B member 6

Names: DnaJ (Hsp40) homolog, subfamily B, member 6; DnaJ-like 2 protein; heat shock protein J2

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

NG_032573.1 RefSeqGene

Range

4989..85424

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001363676.1 → NP_001350605.1 dnaJ homolog subfamily B member 6 isoform d

Status: REVIEWED

Source sequence(s)

AC006372, AK223601, AK297497, AK301152

Consensus CDS

CCDS87571.1

UniProtKB/TrEMBL

B4DMJ9, E9PH18

Related

ENSP00000396267.1, ENST00000443280.5

Conserved Domains (1) summary

COG0484
Location:2 → 106

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
NM_005494.3 → NP_005485.1 dnaJ homolog subfamily B member 6 isoform b

See identical proteins and their annotated locations for NP_005485.1

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)

AC079306

Consensus CDS

CCDS47755.1

UniProtKB/TrEMBL

A7UJ17

Related

ENSP00000397556.2, ENST00000429029.6

Conserved Domains (1) summary

COG0484
Location:2 → 106

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
NM_058246.4 → NP_490647.1 dnaJ homolog subfamily B member 6 isoform a

See identical proteins and their annotated locations for NP_490647.1

Status: REVIEWED

Description

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

Source sequence(s)

AC006372, AC079306

Consensus CDS

CCDS5946.1

UniProtKB/Swiss-Prot

A4D232, A8K7D8, A8KAG0, B4DN73, E9PCZ2, O75190, O95806, Q53EN8, Q59EF2, Q6FIC8, Q75MA2, Q9UIK6

UniProtKB/TrEMBL

B4DNN5

Related

ENSP00000262177.4, ENST00000262177.9

Conserved Domains (1) summary

COG0484
Location:2 → 106

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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

157337004..157417439

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006715823.3 → XP_006715886.1 dnaJ homolog subfamily B member 6 isoform X3

UniProtKB/TrEMBL

C9J2C4

Conserved Domains (2) summary

COG0484
Location:2 → 106

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

pfam00226
Location:3 → 66

DnaJ; DnaJ domain
XM_005249515.4 → XP_005249572.1 dnaJ homolog subfamily B member 6 isoform X1

See identical proteins and their annotated locations for XP_005249572.1

UniProtKB/TrEMBL

A0A0J9YX62, B4DNN5

Related

ENSP00000488263.1, ENST00000459889.5

Conserved Domains (1) summary

COG0484
Location:2 → 106

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
XM_047419698.1 → XP_047275654.1 dnaJ homolog subfamily B member 6 isoform X2

UniProtKB/Swiss-Prot

A4D232, A8K7D8, A8KAG0, B4DN73, E9PCZ2, O75190, O95806, Q53EN8, Q59EF2, Q6FIC8, Q75MA2, Q9UIK6
XM_047419696.1 → XP_047275652.1 dnaJ homolog subfamily B member 6 isoform X2

UniProtKB/Swiss-Prot

A4D232, A8K7D8, A8KAG0, B4DN73, E9PCZ2, O75190, O95806, Q53EN8, Q59EF2, Q6FIC8, Q75MA2, Q9UIK6
XM_047419697.1 → XP_047275653.1 dnaJ homolog subfamily B member 6 isoform X2

UniProtKB/Swiss-Prot

A4D232, A8K7D8, A8KAG0, B4DN73, E9PCZ2, O75190, O95806, Q53EN8, Q59EF2, Q6FIC8, Q75MA2, Q9UIK6
XM_005249516.3 → XP_005249573.1 dnaJ homolog subfamily B member 6 isoform X1

See identical proteins and their annotated locations for XP_005249573.1

UniProtKB/TrEMBL

A0A0J9YX62, B4DNN5

Conserved Domains (1) summary

COG0484
Location:2 → 106

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
XM_047419695.1 → XP_047275651.1 dnaJ homolog subfamily B member 6 isoform X1

UniProtKB/TrEMBL

A0A0J9YX62

Conserved Domains (1) summary

COG0484
Location:2 → 106

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
XM_011515704.2 → XP_011514006.1 dnaJ homolog subfamily B member 6 isoform X1

See identical proteins and their annotated locations for XP_011514006.1

UniProtKB/TrEMBL

A0A0J9YX62, B4DNN5

Related

ENSP00000488740.1, ENST00000634080.1

Conserved Domains (1) summary

COG0484
Location:2 → 106

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