UniProtKB - O75190 (DNJB6_HUMAN)
DnaJ homolog subfamily B member 6
DNAJB6
Functioni
GO - Molecular functioni
- ATPase activator activity Source: UniProtKB
- chaperone binding Source: UniProtKB
- heat shock protein binding Source: UniProtKB
- identical protein binding Source: IntAct
- unfolded protein binding Source: UniProtKB
GO - Biological processi
- intermediate filament organization Source: UniProtKB
- negative regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
- negative regulation of inclusion body assembly Source: UniProtKB
- protein folding Source: UniProtKB
- regulation of cellular response to heat Source: Reactome
- regulation of protein localization Source: ParkinsonsUK-UCL
Keywordsi
Molecular function | Chaperone |
Enzyme and pathway databases
PathwayCommonsi | O75190 |
Reactomei | R-HSA-3371453, Regulation of HSF1-mediated heat shock response |
Names & Taxonomyi
Protein namesi | Recommended name: DnaJ homolog subfamily B member 6Alternative name(s): HHDJ1 Heat shock protein J2 Short name: HSJ-2 MRJ MSJ-1 |
Gene namesi | Name:DNAJB6 Synonyms:HSJ2, MRJ, MSJ1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:14888, DNAJB6 |
MIMi | 611332, gene |
neXtProti | NX_O75190 |
VEuPathDBi | HostDB:ENSG00000105993.14 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Other locations
- perinuclear region 1 Publication
- Z line 1 Publication
Cytosol
- cytosol Source: UniProtKB
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- membrane Source: UniProtKB
- perinuclear region of cytoplasm Source: UniProtKB
- Z disc Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Muscular dystrophy, limb-girdle, autosomal dominant 1 (LGMDD1)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067833 | 89 | F → I in LGMDD1; the mutation results in inefficient inhibition of protein aggregation by isoform B. 1 PublicationCorresponds to variant dbSNP:rs387907150EnsemblClinVar. | 1 | |
Natural variantiVAR_067834 | 93 | F → L in LGMDD1; the mutation results in inefficient inhibition of protein aggregation by isoform B. 2 PublicationsCorresponds to variant dbSNP:rs387907046EnsemblClinVar. | 1 | |
Natural variantiVAR_067835 | 96 | P → R in LGMDD1. 1 PublicationCorresponds to variant dbSNP:rs387907047EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Limb-girdle muscular dystrophyOrganism-specific databases
DisGeNETi | 10049 |
GeneReviewsi | DNAJB6 |
MalaCardsi | DNAJB6 |
MIMi | 603511, phenotype |
OpenTargetsi | ENSG00000105993 |
Orphaneti | 34516, DNAJB6-related limb-girdle muscular dystrophy D1 |
PharmGKBi | PA27418 |
Miscellaneous databases
Pharosi | O75190, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4295674 |
Genetic variation databases
BioMutai | DNAJB6 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | Removed1 Publication | |||
ChainiPRO_0000071025 | 2 – 326 | DnaJ homolog subfamily B member 6Add BLAST | 325 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 135 | Omega-N-methylarginineBy similarity | 1 | |
Modified residuei | 277 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Methylation, PhosphoproteinProteomic databases
EPDi | O75190 |
jPOSTi | O75190 |
MassIVEi | O75190 |
MaxQBi | O75190 |
PaxDbi | O75190 |
PeptideAtlasi | O75190 |
PRIDEi | O75190 |
ProteomicsDBi | 4676 49860 [O75190-1] 49861 [O75190-2] 49862 [O75190-3] |
TopDownProteomicsi | O75190-1 [O75190-1] |
PTM databases
iPTMneti | O75190 |
PhosphoSitePlusi | O75190 |
SwissPalmi | O75190 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000105993, Expressed in cortical plate and 232 other tissues |
ExpressionAtlasi | O75190, baseline and differential |
Genevisiblei | O75190, HS |
Organism-specific databases
HPAi | ENSG00000105993, Low tissue specificity |
Interactioni
Subunit structurei
Homooligomer.
Interacts with BAG3, HSPB8 and STUB1.
Interacts with ALKBH1 (By similarity).
Interacts with HSP70, KRT18 and PTTG. Isoform B interacts with histone deacetylases HDAC4, HDAC6, and SIRT2, HDAC activity is required for antiaggregation.
By similarity3 PublicationsBinary interactionsi
O75190
DNAJB6 - isoform B [O75190-2]
GO - Molecular functioni
- chaperone binding Source: UniProtKB
- heat shock protein binding Source: UniProtKB
- identical protein binding Source: IntAct
- unfolded protein binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 115360, 101 interactors |
IntActi | O75190, 144 interactors |
MINTi | O75190 |
STRINGi | 9606.ENSP00000262177 |
Miscellaneous databases
RNActi | O75190, protein |
Structurei
Secondary structure
3D structure databases
SMRi | O75190 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 2 – 69 | JPROSITE-ProRule annotationAdd BLAST | 68 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 2 – 146 | Interaction with HSP701 PublicationAdd BLAST | 145 | |
Regioni | 119 – 242 | Interaction with KRT181 PublicationAdd BLAST | 124 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 83 – 172 | Gly/Phe-richAdd BLAST | 90 | |
Compositional biasi | 155 – 194 | Ser-richAdd BLAST | 40 |
Domaini
Phylogenomic databases
eggNOGi | KOG0714, Eukaryota |
GeneTreei | ENSGT00940000154205 |
InParanoidi | O75190 |
PhylomeDBi | O75190 |
TreeFami | TF105142 |
Family and domain databases
CDDi | cd06257, DnaJ, 1 hit |
Gene3Di | 1.10.287.110, 1 hit |
InterProi | View protein in InterPro IPR001623, DnaJ_domain IPR018253, DnaJ_domain_CS IPR036869, J_dom_sf |
Pfami | View protein in Pfam PF00226, DnaJ, 1 hit |
PRINTSi | PR00625, JDOMAIN |
SMARTi | View protein in SMART SM00271, DnaJ, 1 hit |
SUPFAMi | SSF46565, SSF46565, 1 hit |
PROSITEi | View protein in PROSITE PS00636, DNAJ_1, 1 hit PS50076, DNAJ_2, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MVDYYEVLGV QRHASPEDIK KAYRKLALKW HPDKNPENKE EAERKFKQVA
60 70 80 90 100
EAYEVLSDAK KRDIYDKYGK EGLNGGGGGG SHFDSPFEFG FTFRNPDDVF
110 120 130 140 150
REFFGGRDPF SFDFFEDPFE DFFGNRRGPR GSRSRGTGSF FSAFSGFPSF
160 170 180 190 200
GSGFSSFDTG FTSFGSLGHG GLTSFSSTSF GGSGMGNFKS ISTSTKMVNG
210 220 230 240 250
RKITTKRIVE NGQERVEVEE DGQLKSLTIN GVADDDALAE ERMRRGQNAL
260 270 280 290 300
PAQPAGLRPP KPPRPASLLR HAPHCLSEEE GEQDRPRAPG PWDPLASAAG
310 320
LKEGGKRKKQ KQREESKKKK STKGNH
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0J9YX62 | A0A0J9YX62_HUMAN | DnaJ homolog subfamily B member 6 | DNAJB6 | 334 | Annotation score: | ||
E9PH18 | E9PH18_HUMAN | DnaJ homolog subfamily B member 6 | DNAJB6 | 211 | Annotation score: | ||
C9J2C4 | C9J2C4_HUMAN | DnaJ homolog subfamily B member 6 | DNAJB6 | 228 | Annotation score: | ||
C9J2P2 | C9J2P2_HUMAN | DnaJ homolog subfamily B member 6 | DNAJB6 | 145 | Annotation score: | ||
C9JB42 | C9JB42_HUMAN | DnaJ homolog subfamily B member 6 | DNAJB6 | 66 | Annotation score: | ||
C9JDR7 | C9JDR7_HUMAN | DnaJ homolog subfamily B member 6 | DNAJB6 | 98 | Annotation score: | ||
C9JDX6 | C9JDX6_HUMAN | DnaJ homolog subfamily B member 6 | DNAJB6 | 125 | Annotation score: | ||
F8WCZ4 | F8WCZ4_HUMAN | DnaJ homolog subfamily B member 6 | DNAJB6 | 129 | Annotation score: | ||
C9JN01 | C9JN01_HUMAN | DnaJ homolog subfamily B member 6 | DNAJB6 | 45 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 128 | G → S in BAD97321 (Ref. 9) Curated | 1 | |
Sequence conflicti | 303 | E → G in BAF85714 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067833 | 89 | F → I in LGMDD1; the mutation results in inefficient inhibition of protein aggregation by isoform B. 1 PublicationCorresponds to variant dbSNP:rs387907150EnsemblClinVar. | 1 | |
Natural variantiVAR_067834 | 93 | F → L in LGMDD1; the mutation results in inefficient inhibition of protein aggregation by isoform B. 2 PublicationsCorresponds to variant dbSNP:rs387907046EnsemblClinVar. | 1 | |
Natural variantiVAR_079428 | 96 | P → L Found in a family with autosomal-dominantly inherited distal-onset myopathy; significant loss of its ability to suppress aggregation of polyglutamine-containing proteins. 1 Publication | 1 | |
Natural variantiVAR_067835 | 96 | P → R in LGMDD1. 1 PublicationCorresponds to variant dbSNP:rs387907047EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_053894 | 1 – 59 | MVDYY…VLSDA → MPHPRILKRP in isoform D. CuratedAdd BLAST | 59 | |
Alternative sequenceiVSP_001289 | 232 – 241 | VADDDALAEE → KEQLLRLDNK in isoform B. 10 Publications | 10 | |
Alternative sequenceiVSP_001290 | 242 – 326 | Missing in isoform B. 10 PublicationsAdd BLAST | 85 | |
Alternative sequenceiVSP_026180 | 301 – 326 | LKEGG…TKGNH → VQREAAVEQAQSETSLGARG QRGHK in isoform C. 4 PublicationsAdd BLAST | 26 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF080569 mRNA Translation: AAD16010.1 Frameshift. AB015798 mRNA Translation: BAA88769.1 AB015799 mRNA Translation: BAA88770.1 AF060703 mRNA Translation: AAF21257.1 AB014888 mRNA Translation: BAA32209.1 AF075601 mRNA Translation: AAD43194.1 CR533498 mRNA Translation: CAG38529.1 AB209859 mRNA Translation: BAD93096.1 Different initiation. AK223601 mRNA Translation: BAD97321.1 AK291953 mRNA Translation: BAF84642.1 AK293025 mRNA Translation: BAF85714.1 AK297796 mRNA Translation: BAG60135.1 AL136707 mRNA Translation: CAB66642.1 AC006372 Genomic DNA No translation available. AC079306 Genomic DNA Translation: AAS07392.1 AC079306 Genomic DNA Translation: AAS07393.1 CH236954 Genomic DNA Translation: EAL23923.1 CH236954 Genomic DNA Translation: EAL23924.1 CH471149 Genomic DNA Translation: EAX04570.1 BC000177 mRNA Translation: AAH00177.1 BC002446 mRNA Translation: AAH02446.1 |
CCDSi | CCDS47755.1 [O75190-2] CCDS5946.1 [O75190-1] |
RefSeqi | NP_005485.1, NM_005494.2 [O75190-2] NP_490647.1, NM_058246.3 [O75190-1] |
Genome annotation databases
Ensembli | ENST00000262177; ENSP00000262177; ENSG00000105993 [O75190-1] ENST00000429029; ENSP00000397556; ENSG00000105993 [O75190-2] |
GeneIDi | 10049 |
KEGGi | hsa:10049 |
UCSCi | uc003wnj.4, human [O75190-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF080569 mRNA Translation: AAD16010.1 Frameshift. AB015798 mRNA Translation: BAA88769.1 AB015799 mRNA Translation: BAA88770.1 AF060703 mRNA Translation: AAF21257.1 AB014888 mRNA Translation: BAA32209.1 AF075601 mRNA Translation: AAD43194.1 CR533498 mRNA Translation: CAG38529.1 AB209859 mRNA Translation: BAD93096.1 Different initiation. AK223601 mRNA Translation: BAD97321.1 AK291953 mRNA Translation: BAF84642.1 AK293025 mRNA Translation: BAF85714.1 AK297796 mRNA Translation: BAG60135.1 AL136707 mRNA Translation: CAB66642.1 AC006372 Genomic DNA No translation available. AC079306 Genomic DNA Translation: AAS07392.1 AC079306 Genomic DNA Translation: AAS07393.1 CH236954 Genomic DNA Translation: EAL23923.1 CH236954 Genomic DNA Translation: EAL23924.1 CH471149 Genomic DNA Translation: EAX04570.1 BC000177 mRNA Translation: AAH00177.1 BC002446 mRNA Translation: AAH02446.1 |
CCDSi | CCDS47755.1 [O75190-2] CCDS5946.1 [O75190-1] |
RefSeqi | NP_005485.1, NM_005494.2 [O75190-2] NP_490647.1, NM_058246.3 [O75190-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6U3R | NMR | - | A | 1-127 | [»] | |
A | 184-231 | [»] | ||||
6U3S | NMR | - | A | 1-127 | [»] | |
A | 184-231 | [»] | ||||
SMRi | O75190 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 115360, 101 interactors |
IntActi | O75190, 144 interactors |
MINTi | O75190 |
STRINGi | 9606.ENSP00000262177 |
Chemistry databases
ChEMBLi | CHEMBL4295674 |
PTM databases
iPTMneti | O75190 |
PhosphoSitePlusi | O75190 |
SwissPalmi | O75190 |
Genetic variation databases
BioMutai | DNAJB6 |
Proteomic databases
EPDi | O75190 |
jPOSTi | O75190 |
MassIVEi | O75190 |
MaxQBi | O75190 |
PaxDbi | O75190 |
PeptideAtlasi | O75190 |
PRIDEi | O75190 |
ProteomicsDBi | 4676 49860 [O75190-1] 49861 [O75190-2] 49862 [O75190-3] |
TopDownProteomicsi | O75190-1 [O75190-1] |
Protocols and materials databases
Antibodypediai | 3316, 304 antibodies |
DNASUi | 10049 |
Genome annotation databases
Ensembli | ENST00000262177; ENSP00000262177; ENSG00000105993 [O75190-1] ENST00000429029; ENSP00000397556; ENSG00000105993 [O75190-2] |
GeneIDi | 10049 |
KEGGi | hsa:10049 |
UCSCi | uc003wnj.4, human [O75190-1] |
Organism-specific databases
CTDi | 10049 |
DisGeNETi | 10049 |
GeneCardsi | DNAJB6 |
GeneReviewsi | DNAJB6 |
HGNCi | HGNC:14888, DNAJB6 |
HPAi | ENSG00000105993, Low tissue specificity |
MalaCardsi | DNAJB6 |
MIMi | 603511, phenotype 611332, gene |
neXtProti | NX_O75190 |
OpenTargetsi | ENSG00000105993 |
Orphaneti | 34516, DNAJB6-related limb-girdle muscular dystrophy D1 |
PharmGKBi | PA27418 |
VEuPathDBi | HostDB:ENSG00000105993.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0714, Eukaryota |
GeneTreei | ENSGT00940000154205 |
InParanoidi | O75190 |
PhylomeDBi | O75190 |
TreeFami | TF105142 |
Enzyme and pathway databases
PathwayCommonsi | O75190 |
Reactomei | R-HSA-3371453, Regulation of HSF1-mediated heat shock response |
Miscellaneous databases
BioGRID-ORCSi | 10049, 177 hits in 886 CRISPR screens |
ChiTaRSi | DNAJB6, human |
GeneWikii | DNAJB6 |
GenomeRNAii | 10049 |
Pharosi | O75190, Tbio |
PROi | PR:O75190 |
RNActi | O75190, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000105993, Expressed in cortical plate and 232 other tissues |
ExpressionAtlasi | O75190, baseline and differential |
Genevisiblei | O75190, HS |
Family and domain databases
CDDi | cd06257, DnaJ, 1 hit |
Gene3Di | 1.10.287.110, 1 hit |
InterProi | View protein in InterPro IPR001623, DnaJ_domain IPR018253, DnaJ_domain_CS IPR036869, J_dom_sf |
Pfami | View protein in Pfam PF00226, DnaJ, 1 hit |
PRINTSi | PR00625, JDOMAIN |
SMARTi | View protein in SMART SM00271, DnaJ, 1 hit |
SUPFAMi | SSF46565, SSF46565, 1 hit |
PROSITEi | View protein in PROSITE PS00636, DNAJ_1, 1 hit PS50076, DNAJ_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DNJB6_HUMAN | |
Accessioni | O75190Primary (citable) accession number: O75190 Secondary accession number(s): A4D232 Q9UIK6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 30, 2000 |
Last sequence update: | October 18, 2001 | |
Last modified: | February 10, 2021 | |
This is version 199 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM