DNAJC19 Gene Summary [Human]
The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutaconic aciduria type 5 (MGA5), also known as dilated cardiomyopathy with ataxia (DCMA). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 2, 6, 10, 14 and 19. [provided by RefSeq, Jan 2012]
Details
| Type | Protein Coding |
| Official Symbol | DNAJC19 |
| Official Name | DnaJ heat shock protein family (Hsp40) member C19 [Source:HGNC Symbol;Acc:HGNC:30528] |
| Ensembl ID | ENSG00000205981 |
| Bio databases IDs | |
| Aliases | DnaJ heat shock protein family (Hsp40) member C19, mitochondrial import inner membrane translocase subunit TIM14 |
| Synonyms | 1810055D05Rik, DnaJ heat shock protein family (Hsp40) member C19, LOC683663, PAM18, RGD1560220, TIM14, TIMM14 |
| 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 DNAJC19 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 molecular chaperone homology domain
- protein binding
Pathways
Biological processes and signaling networks where the DNAJC19 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.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DNAJC19 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein targeting to mitochondrion
- regulation of cardiolipin metabolic process
- genitalia development
- protein import into mitochondrial matrix
- intracellular protein transport
- protein folding
- visual perception
Cellular Component
Where in the cell the gene product is active
- mitochondrial inner membrane presequence translocase complex
- mitochondrion
- membrane
- presequence translocase-associated import motor
- macromolecular complex
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- ATPase activator activity