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FLASH GENE
Symbol POGLUT1 contributors: mct - updated : 28-01-2014
HGNC name protein O-glucosyltransferase 1
HGNC id 22954
Corresponding disease
DDD3 Dowling-Degos disease 3
Location 3q13.33      Physical location : -
Synonym name
  • CAP10-like 46 kDa protein
  • KDELC family like 1
  • KTEL (Lys-Tyr-Glu-Leu) containing 1
  • myelodysplastic syndromes relative protein
  • Synonym symbol(s) MDS010, C3orf9, CLP46, KDELCL1, KTELC1, MDSRP, Rumi, hCLP46
    DNA
    TYPE functioning gene
    STRUCTURE 25.77 kb     11 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 3552 - 392 - 2011 21949356
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Skin/Tegumentskin     Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningepidermisstratum granulosum  Homo sapiens
    Epithelialbarrier liningepidermisstratum spinosum  Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DDD3
    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