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FLASH GENE
Symbol PHGDH contributors: mct - updated : 18-06-2016
HGNC name phosphoglycerate dehydrogenase
HGNC id 8923
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly Homo sapiens
Lymphoid/Immunespleen   highly Homo sapiens
Nervousbrain   highly Homo sapiens
Reproductivemale systemtestis  highly Homo sapiens
Urinarykidney   highly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
cell lineage
cell lines
fluid/secretion predominantly in lymph
at STAGE
physiological period fetal
Text highly expressed in all fetal tissues, including brain tissue
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