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FLASH GENE
Symbol PGM1 contributors: mct - updated : 24-02-2016
HGNC name phosphoglucomutase 1
HGNC id 8905
Corresponding disease
CDG1T congenital disorder of glycosylation, type 1T
Location 1p31.3      Physical location : 64.058.946 - 64.125.914
Synonym symbol(s) GSD14
EC.number 5.4.2.2
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)
Physical map
HOOK1 1p32.1 hook homolog 1 (Drosophila) CYP2J2 1p31.3-p31.2 cytochrome P450, family 2, subfamily J, polypeptide 2 MGC34837 1p32.1 hypothetical protein MGC34837 NFIA 1p31.3-p31.2 nuclear factor I/A BBP 1p32.1 beta-amyloid binding protein precursor INADL 1p32.1-p31.3 beta-amyloid binding protein precursor FLJ10884 1p32.1 hypothetical protein FLJ10884 LOC388637 1 similar to LOC163782 protein USP1 1p32.1-p31.3 ubiquitin specific protease 1 ANGPTL3 1p31 angiopoietin-like 3 AUTL1 1p31.3 AUT-like 1, cysteine endopeptidase (S. cerevisiae) LOC199897 1p32.1 hypothetical LOC199897 LOC388638 1 LOC388638 FOXD3 1p32-p31 forkhead box D3 ALG6 1p31.3 forkhead box D3 ITGB3BP 1p31.3 integrin beta 3 binding protein (beta3-endonexin) KIAA1799 1p31.3 KIAA1799 protein PGM1 1p22.3 phosphoglucomutase 1 ROR1 1p32-p31 receptor tyrosine kinase-like orphan receptor 1 MGC35130 1p31.3 hypothetical protein MGC35130 KIAA1573 1p31.3 KIAA1573 protein KIAA1579 1p31.3 hypothetical protein FLJ10770 JAK1 1p31.3 Janus kinase 1 (a protein tyrosine kinase) LOC391045 1 similar to Solute carrier family 2, facilitated glucose transporter, member 3 (Glucose transporter type 3, brain) MRPS21P1 1p31.3 mitochondrial ribosomal protein S21 pseudogene AK3 1p31 adenylate kinase 3 DNAJC6 1pter-q31.3 DnaJ (Hsp40) homolog, subfamily C, member 6 LEPR 1p31 leptin receptor PDE4B 1p31 phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila) DKFZp761D221 1p31.3 hypothetical protein DKFZp761D221 FLJ40873 1p31.3 hypothetical protein FLJ40873 INSL5 1p31.1-p22.3 insulin-like 5 FLJ23129 1p31.3 hypothetical protein FLJ23129 MI-ER1 1p31.3 mesoderm induction early response 1 SLC35D1 1p32-p31 solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 IL23R 1p31.3-p31.2 interleukin-23 receptor IL12RB2 1p31.3-p31.2 interleukin 12 receptor, beta 2 PAI-RBP1 1p31-p22 PAI-1 mRNA-binding protein LOC391046 1 similar to heterogeneous nuclear ribonucleoprotein C isoform b; nuclear ribonucleoprotein particle C1 protein; nuclear ribonucleoprotein particle C2 protein
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