PHGDH Gene Summary [Human]
This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011]
Details
| Type | Protein Coding |
| Official Symbol | PHGDH |
| Official Name | phosphoglycerate dehydrogenase [Source:HGNC Symbol;Acc:HGNC:8923] |
| Ensembl ID | ENSG00000092621 |
| Bio databases IDs | |
| Aliases | phosphoglycerate dehydrogenase, D-3-phosphoglycerate dehydrogenase |
| Synonyms | 3-PGDH, 3-phosphoglycerate dehydrogenase, 4930479N23, A10, HEL-S-113, LOC105378936, NLS, NLS1, PDG, PGAD, PGD, PGDH, PGDH3, PHGDHD, phosphoglycerate dehydrogenase, SERA |
| 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 PHGDH 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
- electron carrier
- D-3-phosphoglycerate dehydrogenase
- enzyme
- protein binding
- D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain
- D-isomer specific 2-hydroxyacid dehydrogenase, NAD binding domain
- phosphoglycerate dehydrogenase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- latent tuberculosis
- epithelial cancer
- cancer
- metastasis
- Neu-Laxova syndrome type 1
- phosphoglycerate dehydrogenase deficiency
- gout
- idiopathic pulmonary fibrosis
- hypoplasia
role in cell
- survival
- apoptosis
- growth
- cell viability
- binding in
- production in
- expression in
- proliferation
- synthesis in
- accumulation in
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
- myelin enriched fraction
- detergent resistant lipid raft fraction
- actin bundles
- cytosol
- mitochondrial inner membrane
- cytoplasmic droplets
- membrane processes
- perikaryon
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PHGDH gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neural tube development
- neuron projection development
- glutamine metabolic process
- L-serine biosynthetic process
- brain development
- glial cell development
- gamma-aminobutyric acid metabolic process
- spinal cord development
- glycine metabolic process
- threonine metabolic process
- regulation of gene expression
- G1 to G0 transition
- taurine metabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytosol
Molecular Function
What the gene product does at the molecular level
- L-malate dehydrogenase activity
- NAD binding
- electron carrier activity
- phosphoglycerate dehydrogenase activity