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FLASH GENE
Symbol PGM3 contributors: mct - updated : 26-08-2014
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
    Physical map
    SH3BGRL2 6q13-15 SH3 domain binding glutamic acid-rich protein like 2 ELOVL4 6q14 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4 LOC391944 6 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) TTK 6q12-q21 TTK protein kinase LOC285786 6q14.3 similar to KIAA1424 protein LOC389412 6 similar to Rho GTPase activating protein 21; Rho-GTPase activating protein 10 BCKDHB 6p22-p21 branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease) LOC391945 6 similar to 60S ribosomal protein L17 (L23) LOC340171 6q14.3 hypothetical LOC340171 LOC153956 6q14.3 similar to citrate (si)-synthase (EC 4.1.3.7) precursor - pig C6orf37 6q14 chromosome 6 open reading frame 37 LOC389413 6 LOC389413 IBTK 6q14.3 inhibitor of Bruton agammaglobulinemia tyrosine kinase TPBG 6q14-q15 trophoblast glycoprotein C6orf157 6q15 chromosome 6 open reading frame 157 KIAA1117 6q15 chromosome 6 open reading frame 157 PGM3 6q14.1-q15 phosphoglucomutase 3 RWDD2 6q15 RWD domain containing 2 ME1 6q12 malic enzyme 1, NADP(+)-dependent, cytosolic C6orf158 6q15 chromosome 6 open reading frame 158 SNAP91 6q13 synaptosomal-associated protein, 91kDa homolog (mouse) C6orf159 6q15 chromosome 6 open reading frame 159 NCB5OR 6pter-q22.33 NADPH cytochrome B5 oxidoreductase C6orf117 6q14.3 chromosome 6 open reading frame 117 C6orf84 6pter-q16.1 chromosome 6 open reading frame 84 LOC346033 6q15 similar to SWI/SNF-related matrix-associated actin-dependent regulator of chromatin e1 TBX18 6p14-q15 T-box 18 LOC391946 6 similar to ribosomal protein L31 LOC391947 6 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LOC391948 6 similar to Translationally controlled tumor protein (TCTP) (p23) (Histamine-releasing factor) (HRF) NT5E 6q14-q15 5'-nucleotidase, ecto (CD73) SNX14 6q15 sorting nexin 14 SYNCRIP 6q14-q15 synaptotagmin binding, cytoplasmic RNA interacting protein LOC389414 6 LOC389414 LOC391949 6 similar to 60S ribosomal protein L7 LOC134686 6q15 similar to NADH-ubiquinone oxidoreductase 13 kDa-B subunit (Complex I-13Kd-B) (CI-13Kd-B) (Complex I subunit B13)
    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
    Cardiovascularheart    
    Digestiveliver    
    Endocrinepancreas   highly
    Reproductivemale systemtestis   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    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
  • 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