DNAJC5 Gene Summary [Human]
This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. The encoded protein plays a role in membrane trafficking and protein folding, and has been shown to have anti-neurodegenerative properties. The encoded protein is known to play a role in cystic fibrosis and Huntington's disease. A pseudogene of this gene is located on the short arm of chromosome 8. [provided by RefSeq, Nov 2010]
Details
| Type | Protein Coding |
| Official Symbol | DNAJC5 |
| Official Name | DnaJ heat shock protein family (Hsp40) member C5 [Source:HGNC Symbol;Acc:HGNC:16235] |
| Ensembl ID | ENSG00000101152 |
| Bio databases IDs | |
| Aliases | DnaJ heat shock protein family (Hsp40) member C5 |
| Synonyms | 2610314I24Rik, CLN4, CLN4B, CSP, CSP alpha, CSP α, DNAJC5A, DnaJ heat shock protein family (Hsp40) member C5, mir-941-2, mir-941-3, mir-941-4, mir-941-5, NCL |
| 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 DNAJC5 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
- DnaJ
- DnaJ molecular chaperone homology domain
- ATP-dependent protein binding
- protein binding
- Cysteine string motif
- zDHHC ankyrin repeat binding domain
- cysteine rich domain
Pathways
Biological processes and signaling networks where the DNAJC5 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
- hypertension
- neurodegeneration
- neuronal ceroid lipofuscinosis
- weight loss
- gliosis
- adult neuronal ceroid lipofuscinosis
- autosomal dominant neuronal ceroid lipofuscinosis 4B
- ataxia
- conductive hearing loss
- diabetes mellitus
role in cell
- apoptosis
- expression in
- degradation in
- production in
- exocytosis
- abnormal morphology
- action potential
- degeneration
- assembly 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.
- Plasma Membrane
- vesicle membrane fractions
- membrane fraction
- synaptic vesicle membrane
- intracellular membrane-bounded organelle
- Cytoplasm
- presynaptic regions
- apical compartment
- cellular membrane
- vesicles
- Golgi Apparatus
- Endoplasmic Reticulum
- secretory granule membrane
- granules
- specific granule membrane
- cytosol
- lysosome membrane
- synaptic vesicles
- neuromuscular junctions
- nerve ending
- synaptosomes
- photoreceptor outer segments
- transport vesicles
- dense-core vesicles
- axons
- exosomes
- clathrin-coated vesicles
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DNAJC5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chaperone-mediated protein folding
- regulated secretory pathway
- synaptic vesicle exocytosis
- exocytosis
- neuron apoptotic process
- negative regulation of neuron apoptotic process
Cellular Component
Where in the cell the gene product is active
- clathrin sculpted gamma-aminobutyric acid transport vesicle membrane
- chromaffin granule membrane
- Golgi apparatus
- lysosomal membrane
- plasma membrane
- melanosome
- intracellular membrane-bounded organelle
- membrane
- mitochondrion
- cytosol
- neuromuscular junction
- synaptic vesicle membrane
- azurophil granule membrane
- specific granule membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- ATP-dependent protein binding