COASY Gene Summary [Human]
Coenzyme A (CoA) functions as a carrier of acetyl and acyl groups in cells and thus plays an important role in numerous synthetic and degradative metabolic pathways in all organisms. In eukaryotes, CoA and its derivatives are also involved in membrane trafficking and signal transduction. This gene encodes the bifunctional protein coenzyme A synthase (CoAsy) which carries out the last two steps in the biosynthesis of CoA from pantothenic acid (vitamin B5). The phosphopantetheine adenylyltransferase domain of this bifunctional protein catalyzes the conversion of 4'-phosphopantetheine into dephospho-coenzyme A (dpCoA) while its dephospho-CoA kinase domain completes the final step by phosphorylating dpCoA to form CoA. Mutations in this gene are associated with neurodegeneration with brain iron accumulation (NBIA). Alternative splicing results in multiple isoforms. [provided by RefSeq, Apr 2014]
Details
| Type | Processed Transcript |
| Official Symbol | COASY |
| Official Name | Coenzyme A synthase [Source:HGNC Symbol;Acc:HGNC:29932] |
| Ensembl ID | ENSG00000068120 |
| Bio databases IDs | |
| Aliases | Coenzyme A synthase, bifunctional Coenzyme A synthase |
| Synonyms | 1300003G02Rik, CoA synthase, Coenzyme A synthase, DPCK, Naglu, NBIA6, NBP, PCH12, pOV-2, PPAT, PPAT/DPCK, UKR1 |
| 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 COASY often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- alpha-N-acetylglucosaminidase
- dephospho-CoA kinase
- Cytidylyltransferase-like
- Cytidylate kinase-like family
- NK
- cytidyltransferase-like domain
- pantetheine-phosphate adenylyltransferase
- enzyme
- protein binding
- nucleotidyl transferase superfamily
- AAA domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neurodegeneration with brain iron accumulation 6
- pontocerebellar hypoplasia type 12
- neurodegeneration with brain iron accumulation
- myopathy with abnormal lipid metabolism
- aortic valve calcification
- infection by HIV-1
regulates
- coenzyme A
role in cell
- function
- function in
- cisplatin sensitivity
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 matrix
- mitochondrial outer membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human COASY gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- coenzyme A biosynthetic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- mitochondrial matrix
- mitochondrial outer membrane
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- dephospho-CoA kinase activity
- pantetheine-phosphate adenylyltransferase activity