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

Gene ID: 10049, updated on 12-Aug-2018
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; 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; LGMD1D; LGMD1E
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
See DNAJB6 in Genome Data Viewer
Location:
7q36.3
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (157337004..157417439)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (157129692..157210133)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ubiquitin protein ligase E3C Neighboring gene UBX domain protein 2B pseudogene Neighboring gene ribosomal protein L36a pseudogene 30 Neighboring gene uncharacterized LOC101927914 Neighboring gene uncharacterized LOC105375610

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Limb-girdle muscular dystrophy, type 1E 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

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

  • Cellular response to heat stress, organism-specific biosystem (from REACTOME)
    Cellular response to heat stress, organism-specific biosystemIn response to exposure to elevated temperature and certain other proteotoxic stimuli (e.g., hypoxia, free radicals) cells activate a number of cytoprotective mechanisms known collectively as "heat s...
  • Cellular responses to stress, organism-specific biosystem (from REACTOME)
    Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
  • Regulation of HSF1-mediated heat shock response, organism-specific biosystem (from REACTOME)
    Regulation of HSF1-mediated heat shock response, organism-specific biosystemThe ability of HSF1 to respond to cellular stresses is under negative regulation by chaperones, modulation of nucleocytoplasmic shuttling, post-translational modifications and transition from monomer...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC1152, FLJ42837, MGC117297, DKFZp566D0824

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
ATPase activator activity TAS
Traceable Author Statement
more info
 
DNA binding IEA
Inferred from Electronic Annotation
more info
 
chaperone binding IDA
Inferred from Direct Assay
more info
PubMed 
chaperone binding IPI
Inferred from Physical Interaction
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 IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
chorio-allantoic fusion IEA
Inferred from Electronic Annotation
more info
 
chorion development IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
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 
negative regulation of inclusion body assembly IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of inclusion body assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
positive regulation of ATPase activity IEA
Inferred from Electronic Annotation
more info
 
protein folding IDA
Inferred from Direct Assay
more info
PubMed 
protein localization to nucleus IEA
Inferred from Electronic Annotation
more info
 
regulation of cellular response to heat TAS
Traceable Author Statement
more info
 
regulation of protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
syncytiotrophoblast cell differentiation involved in labyrinthine layer development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Z disc IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus HDA PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
dnaJ homolog subfamily B member 6
Names
DnaJ (Hsp40) homolog, subfamily B, member 6
DnaJ-like 2 protein
heat shock protein J2

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_032573.1 RefSeqGene

    Range
    5002..85424
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AC006372, AK223601, AK297497, AK301152
    Consensus CDS
    CCDS87571.1
    Conserved Domains (1) summary
    COG0484
    Location:2106
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
  2. NM_005494.2NP_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)
    AL136707
    Consensus CDS
    CCDS47755.1
    UniProtKB/Swiss-Prot
    O75190
    Related
    ENSP00000397556.2, OTTHUMP00000211815, ENST00000429029.6, OTTHUMT00000348120
    Conserved Domains (1) summary
    COG0484
    Location:2106
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
  3. NM_058246.3NP_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)
    BC002446
    Consensus CDS
    CCDS5946.1
    UniProtKB/Swiss-Prot
    O75190
    Related
    ENSP00000262177.4, OTTHUMP00000211814, ENST00000262177.8, OTTHUMT00000348119
    Conserved Domains (1) summary
    COG0484
    Location:2106
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    157337004..157417439
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011633.1XP_016867122.1  dnaJ homolog subfamily B member 6 isoform X3

    UniProtKB/TrEMBL
    E9PH18
    Related
    ENSP00000396267.1, OTTHUMP00000211817, ENST00000443280.5, OTTHUMT00000348125
    Conserved Domains (1) summary
    COG0484
    Location:2106
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
  2. XM_006715823.2XP_006715886.1  dnaJ homolog subfamily B member 6 isoform X2

    Conserved Domains (2) summary
    COG0484
    Location:2106
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
    pfam00226
    Location:366
    DnaJ; DnaJ domain
  3. XM_005249515.3XP_005249572.1  dnaJ homolog subfamily B member 6 isoform X1

    See identical proteins and their annotated locations for XP_005249572.1

    UniProtKB/TrEMBL
    A0A0J9YX62
    Related
    ENSP00000488263.1, OTTHUMP00000280887, ENST00000459889.5
    Conserved Domains (2) summary
    COG0484
    Location:2106
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
    pfam00226
    Location:366
    DnaJ; DnaJ domain
  4. XM_011515704.1XP_011514006.1  dnaJ homolog subfamily B member 6 isoform X1

    See identical proteins and their annotated locations for XP_011514006.1

    UniProtKB/TrEMBL
    A0A0J9YX62
    Related
    ENSP00000488740.1, OTTHUMP00000280888, ENST00000634080.1, OTTHUMT00000487487
    Conserved Domains (2) summary
    COG0484
    Location:2106
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
    pfam00226
    Location:366
    DnaJ; DnaJ domain
  5. XM_005249516.2XP_005249573.1  dnaJ homolog subfamily B member 6 isoform X1

    See identical proteins and their annotated locations for XP_005249573.1

    UniProtKB/TrEMBL
    A0A0J9YX62
    Conserved Domains (2) summary
    COG0484
    Location:2106
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
    pfam00226
    Location:366
    DnaJ; DnaJ domain
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