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FLASH GENE
Symbol POMGNT1 contributors: mct/npt - updated : 06-10-2016
HGNC name protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase
HGNC id 19139
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a cytoplasmic tail
  • a transmembrane domain
  • one STEM domain
  • the catalytic domain with the enzyme binding region and the substrate -specific region
    • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Pomgnt1
    Homologene
    FAMILY
  • glycosyltransferase 13 family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic,microsome
    text
  • typical type II membrane protein, which is localized in the Golgi apparatus
    • basic FUNCTION
  • participating in O-mannosyl glycan synthesis
  • catalyzing the transfer of GlcNAc to O-mannose of glycoproteins
  • promotes Glioblastoma multiforme (GBM) progression via activation of CTNNB1
  • is a Golgi glycosyltransferase that catalyzes the formation of the N-acetylglucosamine (GlcNAc) beta1&
    • 8594;2Man linkage of O-mannosyl glycan
  • is glycosylated by mucin-type O-glycans
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS locomotion
    PATHWAY
    metabolism other
    signaling
    glycosylation
    a component
  • forms a complex with FKTN that may modulate its enzymatic activity
    • INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • Mn2+
    • protein
  • DAG1 and LARGE for a convergent post-translational processing pathway during the biosynthesis of dystroglycan in the muscle
  • alpha-dystroglycan, a substrate of POMGNT1, is concentrated around the blood vessels, in the outer plexiform layer (OPL), and in the inner limiting membrane (ILM) of the retina
  • interacting with FKTN
  • GOLPH3 was found to bind to POMGNT1 which is involved in O-mannosylation of alpha-dystroglycan (novel role for GOLPH3 in mediating the Golgi localization of POMGNT1)
  • POMGNT1 stem region modulates O-mannosylation sites of DAG1, by its carbohydrate-binding domain
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) WLKWS4 , MDDGC3 , MDDGB3 , RP76
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • prognostic factor for glioma patient survival
    • Therapy target
    SystemTypeDisorderPubmed
    cancerbrainglioma/neuroblstoma
    novel molecular target for anticancer therapy in malignant glioma
    ANIMAL & CELL MODELS
  • altered glycosylation of Alpha-dystroglycan may be responsible for the reactive gliosis and reticular fibrosis in the retina, and the subsequent developments of retinal dysplasia, abnormal ERGs, and retinal detachment in the mutant mice