Gene
psat1
- ID
- ZDB-GENE-030131-5723
- Name
- phosphoserine aminotransferase 1
- Symbol
- psat1 Nomenclature History
- Previous Names
-
- fi15b02
- wu:fi15b02
- zgc:55738
- zgc:77622
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to have O-phospho-L-serine:2-oxoglutarate aminotransferase activity. Predicted to be involved in L-serine biosynthetic process. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in Neu-Laxova syndrome 2 and PSAT deficiency. Is expressed in immature eye; myotome; nervous system; and pigment cell. Orthologous to human PSAT1 (phosphoserine aminotransferase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:55738 (11 images)
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 |
|---|---|---|---|
| Neu-Laxova syndrome 2 | Alliance | Neu-Laxova syndrome 2 | 616038 |
| PSAT deficiency | Alliance | Phosphoserine aminotransferase deficiency | 610992 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR020578 | Aminotransferase class-V, pyridoxal-phosphate binding site |
| Domain | IPR000192 | Aminotransferase class V domain |
| Family | IPR022278 | Phosphoserine aminotransferase |
| Homologous_superfamily | IPR015421 | Pyridoxal phosphate-dependent transferase, major domain |
| Homologous_superfamily | IPR015422 | Pyridoxal phosphate-dependent transferase, small domain |
| Homologous_superfamily | IPR015424 | Pyridoxal phosphate-dependent transferase |
Domain Details Per Protein
| Protein | Length | Aminotransferase class V domain | Aminotransferase class-V, pyridoxal-phosphate binding site | Phosphoserine aminotransferase | Pyridoxal phosphate-dependent transferase | Pyridoxal phosphate-dependent transferase, major domain | Pyridoxal phosphate-dependent transferase, small domain |
|---|---|---|---|---|---|---|---|
|
UniProtKB:Q803I7
|
368 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available