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FLASH GENE
Symbol PGM3 contributors: mct - updated : 26-08-2016
HGNC name phosphoglucomutase 3
HGNC id 8907
Corresponding disease
CDG2R congenital disorder of glycosylation, type 2R
Location 6q14.1      Physical location : 83.878.629 - 83.902.935
Synonym name
  • N-acetylglucosamine-phosphate mutase
  • acetylglucosamine-phospho mutase
  • Synonym symbol(s) AGM1, DKFZP434B187, PAGM, IMD23
    EC.number 5.4.2.2, 5.4.2.3
    DNA
    TYPE functioning gene
    STRUCTURE 29.06 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 2092 - 566 - 2000 10721701
    13 - 6243 - 570 ubiquitous, except in lung 2000 10721701
    - - 5905 - 441 ubiquitous, except in lung 2000 10721701
    - - 6107 - 542 - 2000 10721701
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth     Homo sapiens
    Endocrinethyroid   highly Homo sapiens
    Reproductivefemale systemplacenta    Homo sapiens
     male systemtestis  highly Homo sapiens
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four domains
  • active site is made up of one loop from each of the four: the serine loop in domain 1, the metal-binding loop in domain 2, the sugar-binding loop in domain 3, and the phosphate-binding loop in domain 4
  • HOMOLOGY
    Homologene
    FAMILY
  • phosphohexose mutases family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • bifunctional enzyme
  • is an N-acetylglucosamine phosphomutase and participates in hexosamine biosynthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    glycoproteins
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDG2R
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductiveprostate
    is a potential molecular therapeutic target for prostate cancer
    ANIMAL & CELL MODELS
  • Pgm3-/- mice die in early embryogenesis and show a dramatic reduction in UDP-GlcNAc (pMID: 24931394)
  • mice lacking Pgm3 die prior to implantation, animals with less severe reductions in enzyme activity are sterile, exhibit changes in pancreatic architecture, and are anemic, leukopenic, and thrombocytopenic