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FLASH GENE
Symbol ST3GAL5 contributors: mct/npt - updated : 29-03-2014
HGNC name ST3 beta-galactoside alpha-2,3-sialyltransferase 5
HGNC id 10872
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two sialyl motifs L in the center and S in the C terminal region
  • a single short transmembrane doamin
    • HOMOLOGY
    interspecies homolog to murine Siat9
    Homologene
    FAMILY
  • glycosyltransferase family 29
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    text
  • type II transmembrane protein
  • anchored to the lumenal side of the Golgi membrane
    • basic FUNCTION
  • having alpha-2,3-sialyltransferase activity and catalyzing the formation of ganglioside GM3
  • playing a key role in the biosynthesis of all complex gangliosides
  • primary glycosyltransferase responsible for the biosynthesis of ganglio-series gangliosides
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    glycosphingolipid biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CAV1 was identified as a GM3-interacting protein in ST3GAL5 overexpressing cells
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EIOS , SAPS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    point mutation almost completely depletes human fibroblast cellular gangliosides, dampens membrane EGFR activation, and modulates related critical cell functions such as proliferation and migration
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    miscelleaneousurinary 
    is a new anti-cystic therapeutic target
    ANIMAL & CELL MODELS
  • Gm3-deficient jck mice displayed milder PKD, revealing a pivotal role for ganglioside GM3, and loss of GM3 synthase gene, is protective against murine nephronophthisis-related polycystic kidney disease (PMID;
  • defect of hearing ability of St3gal5 null mice could be attributed to the functional disorganization of the organ of Corti, and the expression of gangliosides, especially GM3, during the early part of the functional maturation of the cochlea could be essential for the acquisition and maintenance of hearing function