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FLASH GENE
Symbol POGLUT1 contributors: mct - updated : 03-06-2021
HGNC name protein O-glucosyltransferase 1
HGNC id 22954
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal (AAs 1180)
  • a CAP10 domain with two DXD-like motifs
  • a WXGG motif which is essential for the enzymatic activity
  • a KDEL-like ER retention signal at the C terminus , and a C-terminal (AAs 181392) domain that together form a large binding pocket for the substrate UDP-glucose at the domain interfacea signal peptide
  • HOMOLOGY
    interspecies homolog to drosophila Rumi
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • colocalization of the WT POGLUT1 with endoplasmic reticulum (ER)
  • basic FUNCTION
  • regulates the proliferation of U937 cell through CDKN1B-RB signaling pathway, which may be important for the pathogenesis of leukemia
  • enzymatic activity of POGLUT1 is key to its regulatory role in the Notch pathway
  • is likely to have additional important targets during mammalian development
  • soluble, endoplasmic reticulum-retained protein that functions as a protein O-glucosyltransferase
  • catalyze transfer of glucose from UDP-glucose to an EGF repeat from human factor VII
  • primarily regulates Notch signaling through its enzymatic activity, and regulation of Notch signaling by PGLUT1 depends potentially on the addition of O-glucose or O-Xyl to Notch pathway components by POGLUT1
  • enhanced Notch activation
  • having protein O-xylosyltransferase activity
  • POGLUT1 and POFUT1 are essential regulators of Notch activity
  • important for the correct differentiation of the epidermal layer and might emphasize an important role for POGLUT1 in the development of the epidermis
  • is a protein-O-glucosyltransferase that transfers glucose and xylose to the EGF-like domains of Notch and other signaling receptors
  • Poglut1 contributes to myogenesis by regulating Notch signaling and defining, directly or indirectly, the proportion of cells that commit differentiation
  • POGLUT1, POGLUT2, POGLUT3, use uridine diphosphate (UDP)-Glc as a substrate to modify EGF repeats and reside in the endoplasmic reticulum via C-terminal KDEL-like signals, and in addition to O-glucosylation activity, POGLUTs can also perform protein O-xylosylation function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DDD3 , LGMD2Z
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    might be an early event in the pathogenesis ofin T-acute lymphoblastic leukemia and acute myelogenous leukemia
    tumoral     --over  
    in primary acute myelogenous leukaemia, T-acute lymphoblastic leukaemia samples and other leukaemia cell lines
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Rumi(-/-) mouse embryos die before embryonic day 9.5 with posterior axis truncation and severe defects in neural tube development, somitogenesis, cardiogenesis and vascular remodeling