AASDHPPT Gene Summary [Human]
The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate. It has been suggested that defects in the human gene result in pipecolic acidemia. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | AASDHPPT |
| Official Name | aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase [Source:HGNC Symbol;Acc:HGNC:14235] |
| Ensembl ID | ENSG00000149313 |
| Bio databases IDs | |
| Aliases | aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase, holo ACP synthase, holo-[acyl-carrier-protein] synthase |
| Synonyms | 2010309J24Rik, 2810407B07Rik, AASD-PPT, ACPS, AD010, aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase, CGI-80, LYS2, LYS5 |
| 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 AASDHPPT often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- L-aminoadipate-semialdehyde dehydrogenase
- enzyme
- protein binding
- holo-[acyl-carrier-protein] synthase
- magnesium ion binding
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
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AASDHPPT gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- pantothenate metabolic process
- 10-formyltetrahydrofolate catabolic process
- protein maturation
- lysine biosynthetic process via aminoadipic acid
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytosol
Molecular Function
What the gene product does at the molecular level
- magnesium ion binding
- protein binding
- holo-[acyl-carrier-protein] synthase activity