AASS Gene Summary [Human]
This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | AASS |
| Official Name | aminoadipate-semialdehyde synthase [Source:HGNC Symbol;Acc:HGNC:17366] |
| Ensembl ID | ENSG00000008311 |
| Bio databases IDs | |
| Aliases | aminoadipate-semialdehyde synthase, alpha-aminoadipic semialdehyde synthase, lysine ketoglutarate reductase/saccharopine dehydrogenase |
| Synonyms | aminoadipate-semialdehyde synthase, LKR, LKRSDH, LKR/SDH, LOR, LORSDH, LOR/SDH, SDH |
| 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 AASS often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- histone binding
- saccharopine dehydrogenase (NAD, L-lysine-forming)
- Saccharopine dehydrogenase C-terminal domain
- Alanine dehydrogenase/PNT, N-terminal domain
- transcription co-repressor
- enzyme
- Saccharopine dehydrogenase NADP binding domain
- saccharopine dehydrogenase (NADP, L-lysine-forming)
- Alanine dehydrogenase/PNT, C-terminal domain
- saccharopine dehydrogenase (NAD, L-glutamate-forming)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- alpha-aminoadipic semialdehyde deficiency
- luminal B breast cancer
- basal-like breast cancer
- luminal A breast cancer
- HER2-positive breast cancer
- infiltrating ductal breast carcinoma
- invasive ductal breast cancer
- hyperlysinemia
- productive infection by HIV-1
regulates
- L-lysine
- saccharopine
role in cell
- development
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
- intracellular membrane-bounded organelle
- Nucleus
- Mitochondria
- cytosol
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AASS gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- lysine catabolic process
- lysine biosynthetic process via aminoadipic acid
- L-lysine catabolic process to acetyl-CoA via saccharopine
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- mitochondrial matrix
- intracellular membrane-bounded organelle
- mitochondrion
- cytosol
Molecular Function
What the gene product does at the molecular level
- saccharopine dehydrogenase (NAD+, L-lysine-forming) activity
- saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity
- saccharopine dehydrogenase (NADP+, L-lysine-forming) activity
- transcription corepressor activity
- histone binding
- saccharopine dehydrogenase activity