Gene
aass
- ID
- ZDB-GENE-061220-8
- Name
- aminoadipate-semialdehyde synthase
- Symbol
- aass Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to enable saccharopine dehydrogenase activity. Predicted to be involved in L-lysine catabolic process to acetyl-CoA via saccharopine. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in hyperlysinemia. Orthologous to human AASS (aminoadipate-semialdehyde synthase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hyperlysinemia | Alliance | Hyperlysinemia | 238700 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR005097 | Saccharopine dehydrogenase, NADP binding domain |
| Domain | IPR007698 | Alanine dehydrogenase/pyridine nucleotide transhydrogenase, NAD(H)-binding domain |
| Domain | IPR007886 | Alanine dehydrogenase/pyridine nucleotide transhydrogenase, N-terminal |
| Domain | IPR032095 | Saccharopine dehydrogenase-like, C-terminal |
| Family | IPR051168 | Alpha-aminoadipic semialdehyde synthase |
| Homologous_superfamily | IPR036291 | NAD(P)-binding domain superfamily |
Domain Details Per Protein
| Protein | Length | Alanine dehydrogenase/pyridine nucleotide transhydrogenase, NAD(H)-binding domain | Alanine dehydrogenase/pyridine nucleotide transhydrogenase, N-terminal | Alpha-aminoadipic semialdehyde synthase | NAD(P)-binding domain superfamily | Saccharopine dehydrogenase-like, C-terminal | Saccharopine dehydrogenase, NADP binding domain |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PYE1
|
531 | ||||||
|
UniProtKB:E7FD66
|
935 |
Interactions and Pathways
No data available
Plasmids
No data available