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FLASH GENE
Symbol PGM1 contributors: mct - updated : 24-02-2016
HGNC name phosphoglucomutase 1
HGNC id 8905
DNA
TYPE functioning gene
STRUCTURE 66.97 kb     11 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
Map pter - RH - (C8A C8A - D1S2 ) - PGM1 - cen pter - D1S19 - PGM1 - D1S22 - ACADM ACADM - cen
Authors Pakstis (89), CEPH (91), Hoyheim (91)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 2487 - 562 - 1999 10738524
11 - 2573 - 580 - 1999 10738524
11 - 2364 - 365 - 1999 10738524
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestivesalivary gland    
 stomach    
Reproductivefemale systemuteruscervix  
 female systemovary   
Skin/Tegumentskin    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscular    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer monomer
HOMOLOGY
Homologene
FAMILY phosphohexose mutase family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION extracellular
    intracellular
intracellular,cytoplasm,cytosolic
basic FUNCTION
  • participating in both the breakdown and synthesis of glucose
  • catalyzes the reversible conversion reaction between glucose-1-phosphate (G-1-P) and glucose-6-phosphate (G-6-P)
  • is likely required for sustained cell growth during nutritional changes, probably through regulating the balance of G-1-P and G-6-P in order to satisfy the cellular demands during nutritional stress
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    magnesium
    protein
  • PGM1 bound to LDB3 at the domains encoded by exons 4 and 10, and LDB3 anchors PGM1 to Z-disc under conditions of stress
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDG1T
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS