Homo sapiens Protein: PHGDH
Summary
InnateDB Protein IDBP-101524.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PHGDH
Protein Name phosphoglycerate dehydrogenase
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000358417
InnateDB Gene IDBG-101522 (PHGDH)
Protein Structure
UniProt Annotation
Function
Subcellular Localization
Disease Associations Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]: Characterized by congenital microcephaly, psychomotor retardation, and seizures. {ECO:0000269PubMed:11055895, ECO:0000269PubMed:19235232}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 81 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 81 [view]
Protein-Protein 81 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004617 phosphoglycerate dehydrogenase activity
GO:0009055 electron carrier activity
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
GO:0051287 NAD binding
Biological Process
GO:0006541 glutamine metabolic process
GO:0006544 glycine metabolic process
GO:0006563 L-serine metabolic process
GO:0006564 L-serine biosynthetic process
GO:0006566 threonine metabolic process
GO:0007420 brain development
GO:0008152 metabolic process
GO:0008652 cellular amino acid biosynthetic process
GO:0009448 gamma-aminobutyric acid metabolic process
GO:0010468 regulation of gene expression
GO:0019530 taurine metabolic process
GO:0021510 spinal cord development
GO:0021782 glial cell development
GO:0021915 neural tube development
GO:0022008 neurogenesis
GO:0031175 neuron projection development
GO:0034641 cellular nitrogen compound metabolic process
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
GO:0070314 G1 to G0 transition
Cellular Component
GO:0005829 cytosol
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR006139 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain
IPR006140 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain
IPR006236 D-3-phosphoglycerate dehydrogenase
IPR029009 Allosteric substrate binding domain
PFAM PF00389
PF02826
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O43175
PhosphoSite PhosphoSite-O43175
TrEMBL Q9UMY3
UniProt Splice Variant
Entrez Gene 26227
UniGene Hs.487296
RefSeq NP_006614
HUGO HGNC:8923
OMIM 606879
CCDS CCDS904
HPRD 06047
IMGT
EMBL AF006043 AF171235 AF171236 AF171237 AF208733 AF208734 AF208735 AF208736 AK315360 AL139251 AL589734 BC000303 BC001349 BC011262 BC032110 CH471122 CR456795
GenPept AAB88664 AAD51413 AAD51414 AAD51415 AAH00303 AAH01349 AAH11262 AAH32110 AAK60574 AAK60575 AAK60576 AAK60577 BAG37755 CAG33076 CAI22212 CAI22407 EAW56708