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FLASH GENE
Symbol GMPPB contributors: mct - updated : 14-09-2013
HGNC name GDP-mannose pyrophosphorylase B
HGNC id 22932
Corresponding disease
MDDGA14 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14
MDDGB14 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14
MDDGC14 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
Location 3p21.31      Physical location : 49.758.931 - 49.761.384
Synonym name
  • GDP-mannose pyrophosphorylase B, isoform 2
  • mannose-1-phosphate guanyltransferase beta
    • Synonym symbol(s) KIAA1851, MDDGA14, MDDGB14, MDDGC14
    EC.number 2.7.7.22/2.7.7.13
    DNA
    TYPE functioning gene
    STRUCTURE 2.50 kb     8 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
    8 - 1688 - 387 - 2000 11082198
    GMPPb I1
    9 - 1607 - 360 - 2000 11082198
    GMPPB I2
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    intraspecies paralog to GMPPA
    Homologene
    FAMILY transferase hexapeptide repeat family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    text
  • localizes to the cytosol, in agreement with its role in cytosolic synthesis of nucleotide sugars
    • basic FUNCTION
  • catalyzing the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides
  • may be involved in the regulation of cell cycle progression
  • catalyzes the formation of GDP-mannose from mannose-1-phosphate and GTP, and is required in four glycosylation pathways
    • CELLULAR PROCESS cell cycle, progression
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component beta subunit of GMPP heterodimerizing with an alpha subunit
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MDDGC14 , MDDGB14 , MDDGA14
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS