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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
Corresponding disease
EIOS epilepsy syndrome, infantile-onset, symptomatic
SAPS Salt & Pepper syndrome
Location 2p11.2      Physical location : 86.066.270 - 86.116.157
Synonym name
  • ganglioside GM3 synthase
  • lactosylceramide alpha-2, 3-sialyltransferase
  • sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)
  • Synonym symbol(s) ST3GALV, SIATGM3S, SIAT9, SAT-I
    EC.number 2.4.99.9
    DNA
    TYPE functioning gene
    STRUCTURE 49.89 kb     7 Exon(s)
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure several putative binding sites for transcription factors AP4, MZF1, SP1, ATF/CREB, NFY, IK2 and LYF1
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text two alternative transcripts
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 2397 - 418 - Berselli (2006)
    7 - 2262 - 395 - Berselli (2006)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   highly
    Digestiveliver   lowly
    Nervousbrain   highly
    Reproductivemale systemtestis  highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelial    
    Lymphoid    
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text highly in placenta
    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