DNAJB6 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | DNAJB6 |
| Official Name | DnaJ heat shock protein family (Hsp40) member B6 [Source:HGNC Symbol;Acc:HGNC:14888] |
| Ensembl ID | ENSG00000105993 |
| Bio databases IDs | |
| Aliases | DnaJ heat shock protein family (Hsp40) member B6 |
| Synonyms | DJ4, DnaJ, DnaJ heat shock protein family (Hsp40) member B6, Heat shock protein J2, HHDJ1, HSJ-2, LGMD1D, LGMD1E, LGMDD1, LOC108350642, mDj4, MRJ, MSJ-1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DNAJB6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- DnaJ domain
- ATPase stimulator
- DnaJ
- transcription regulator
- DnaJ molecular chaperone homology domain
- heat shock protein binding
- nuclear localization sequence
- protein binding
- chaperone binding
- identical protein binding
- DNA binding
Pathways
Biological processes and signaling networks where the DNAJB6 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- limb-girdle muscular dystrophy type 1E
- Parkinson disease
- dry eye syndrome
- glioblastoma
- glioblastoma cancer
- Rett syndrome
- infiltrating ductal breast carcinoma
- invasive ductal breast cancer
- late-onset Parkinson disease
role in cell
- phosphorylation in
- expression in
- proliferation
- cell death
- survival
- cell viability
- formation
- aggregation in
- assembly
- transcription in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- perinuclear region
- cytosol
- nucleoplasm
- Z line
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DNAJB6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of protein localization
- regulation of cellular response to heat
- chaperone-mediated protein folding
- syncytiotrophoblast cell differentiation involved in labyrinthine layer development
- protein folding
- negative regulation of inclusion body assembly
- intermediate filament organization
- chorio-allantoic fusion
- negative regulation of transcription, DNA-dependent
- chorion development
- negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
- extracellular matrix organization
- actin cytoskeleton organization
- protein localization to nucleus
Cellular Component
Where in the cell the gene product is active
- nucleus
- Z disc
- perinuclear region of cytoplasm
- cytoplasm
- membrane
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- heat shock protein binding
- protein binding involved in protein folding
- protein binding
- chaperone binding
- unfolded protein binding
- ATPase activator activity
- Hsp70 protein binding