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FLASH GENE
Symbol PHGDH contributors: mct - updated : 18-06-2016
HGNC name phosphoglycerate dehydrogenase
HGNC id 8923
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • each monomer comprises three distinct domains
  • a nucleotide-binding domain (residues 108–294)
  • a substrate-binding domain (residues 7–107 and 295–336)
  • a regulatory domain that binds serine (residues 337–533)
    • mono polymer homomer , tetramer
    HOMOLOGY
    interspecies homolog to rattus Phgdh (94.2 pc)
    homolog to murine Phdgh (94.6 pc)
    Homologene
    FAMILY
  • D-isomer specific 2-hydroxyacid dehydrogenase family
    • CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    basic FUNCTION
  • involved in transition of phosphoglycerate to 3- phosphohydroxyglycerate, initiating and rate limiting step in the phosphorylated pathway of serine biosynthesis pathway
  • necessary for serine biosynthesis, which serves as a substrate for protein synthesis
  • catalyzes the first step in L-serine synthesis via the phosphorylated pathway
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , electron transport
    text
  • electron carrier
  • brain development
    • PATHWAY
    metabolism aminoacid
    signaling
    amino-acid biosynthesis (L-serine from 3-phospho-D-glyceric acid)
    a component
  • tetramer consisting of four identical subunits
    • INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • NAD+
    • protein
  • target of HOXA10 regulation in endometrial cells
  • PRKCZ represses the expression of PHGDH and PSAT1, and phosphorylates PHGDH at key residues to inhibit its enzymatic activity
  • PRKCZ acts as a metabolic tumor suppressor by inhibiting PHGDH expression and activity
  • PHGDH promotes pancreatic cancer development through enhancing the translation initiations by interacting with EIF4A1 and EIF4E
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PHGDH , NELAS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in leukemia, lymphoma and carcinoma
    constitutional     --other  
    in cycling endometrial tissue, is relatively high in the proliferative phase in glandular cells and lower in the secretory phase
    constitutional   deletion    
    L-serine deficiency caused by its deletion leads to robust induction of EIF4EBP1 and subsequent repression of translation initiation in the developing central nervous system
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • impaired neurogenesis in embryonic spinal cord of Phgdh knockout mice, a serine deficiency disorder model
  • severe impairment in neurogenesis of the central nervous system of Phgdh knockout (KO) embryos and a reduction in the protein content of their brains