Gene
phgdh
- ID
- ZDB-GENE-030131-647
- Name
- phosphoglycerate dehydrogenase
- Symbol
- phgdh Nomenclature History
- Previous Names
-
- fb38f06
- wu:fb38f06
- zgc:65956 (1)
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have phosphoglycerate dehydrogenase activity. Predicted to be involved in cellular amino acid metabolic process. Human ortholog(s) of this gene implicated in Neu-Laxova syndrome 1; PHGDH deficiency; and amino acid metabolic disorder. Orthologous to human PHGDH (phosphoglycerate dehydrogenase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- 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 |
|---|---|---|---|
| Neu-Laxova syndrome 1 | Alliance | Neu-Laxova syndrome 1 | 256520 |
| PHGDH deficiency | Alliance | Phosphoglycerate dehydrogenase deficiency | 601815 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR029752 | D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1 |
| Domain | IPR006139 | D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain |
| Domain | IPR006140 | D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain |
| Domain | IPR045626 | D-3-phosphoglycerate dehydrogenase, ASB domain |
| Family | IPR006236 | D-3-phosphoglycerate dehydrogenase |
| Homologous_superfamily | IPR029009 | Allosteric substrate binding domain superfamily |
| Homologous_superfamily | IPR036291 | NAD(P)-binding domain superfamily |
Domain Details Per Protein
| Protein | Length | Allosteric substrate binding domain superfamily | D-3-phosphoglycerate dehydrogenase | D-3-phosphoglycerate dehydrogenase, ASB domain | D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain | D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain | D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1 | NAD(P)-binding domain superfamily |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1QEY8
|
528 |
Interactions and Pathways
No data available
Plasmids
No data available