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 have saccharopine dehydrogenase activity. Predicted to be involved in lysine biosynthetic process via aminoadipic acid. Predicted to localize to 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