InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DNAJB6

Summary

InnateDB Protein

IDBP-387600.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DNAJB6

Protein Name

DnaJ (Hsp40) homolog, subfamily B, member 6

Synonyms

DJ4; DnaJ; HHDJ1; HSJ-2; HSJ2; LGMD1D; LGMD1E; MRJ; MSJ-1;

Species

Homo sapiens

Ensembl Protein

ENSP00000397556

InnateDB Gene

IDBG-50846 (DNAJB6)

Protein Structure

UniProt Annotation

Function

Plays an indispensable role in the organization of KRT8/KRT18 filaments. Acts as an endogenous molecular chaperone for neuronal proteins including huntingtin. Suppresses aggregation and toxicity of polyglutamine-containing, aggregation-prone proteins. Isoform B but not isoform A inhibits huntingtin aggregation. Has a stimulatory effect on the ATPase activity of HSP70 in a dose-dependent and time-dependent manner and hence acts as a co-chaperone of HSP70. Also reduces cellular toxicity and caspase-3 activity. {ECO:0000269PubMed:10954706, ECO:0000269PubMed:11896048, ECO:0000269PubMed:20159555, ECO:0000269PubMed:22366786}.

Subcellular Localization

Cytoplasm, perinuclear region. Nucleus. Cytoplasm, myofibril, sarcomere, Z line.

Disease Associations

Limb-girdle muscular dystrophy 1E (LGMD1E) [MIM:603511]: An autosomal dominant myopathy characterized by adult onset of proximal muscle weakness, beginning in the hip girdle region and later progressing to the shoulder girdle region. {ECO:0000269PubMed:22334415, ECO:0000269PubMed:22366786}. Note=The disease is caused by mutations affecting the gene represented in this entry. There is evidence that LGMD1E is caused by dysfunction of isoform B (PubMed:22366786). {ECO:0000269PubMed:22366786}.

Tissue Specificity

Widely expressed. Highest levels in testis and brain, and lower levels in heart, spleen, intestine, ovary, placenta, lung, kidney, pancreas, thymus, prostate, skeletal muscle, liver and leukocytes. In testis, expressed in germ cells in the earlier stages of differentiation pathway as well as in spermatids. In brain, expressed at a higher level in hippocampus and thalamus and a lower level in amygdala, substantia nigra, corpus callosum and caudate nucleus. {ECO:0000269PubMed:10319584, ECO:0000269PubMed:11896048, ECO:0000269PubMed:22366786, ECO:0000269PubMed:9915854}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 42 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.

Experimentally validated
Total	42 [view]
Protein-Protein	42 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	6 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001671	ATPase activator activity
GO:0005515	protein binding
GO:0031072	heat shock protein binding
GO:0051082	unfolded protein binding
GO:0051087	chaperone binding

Biological Process

GO:0006457	protein folding
GO:0032781	positive regulation of ATPase activity
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0045109	intermediate filament organization
GO:0090084	negative regulation of inclusion body assembly