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FLASH GENE
Symbol CD33 contributors: mct/pgu - updated : 11-03-2015
HGNC name CD33 molecule
HGNC id 1659
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage immature cells of the myelomonocytic lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one Ig-like domain and a cytoplasmic tail
  • two immunoreceptor tyrosine based inhibitory motifs (ITIM)
  • two sites of serine phosphorylation in its cytoplasmic domain, catalyzed by protein kinase C (PKC)
    • conjugated GlycoP , PhosphoP
    HOMOLOGY
    Homologene
    FAMILY
  • immunoglobulin superfamily
  • SIGLEC (sialic acid binding Ig-like lectin) family
    • CATEGORY adhesion , antigen , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • myeloid specific inhibitory receptor that may regulate FcgammaRI signal transduction
  • functioning as a sialic acid-specific lectin and a cell adhesion molecule
  • may act as an inhibitory receptor upon ligand induced tyrosine phosphorylation, by recruiting cytoplasmic phosphatases that block signal transduction through dephosphorylation of signaling molecules
  • enables via its ITIM motifs, the ubiquityaltion of an inhibitory cell surface receptor
  • act as endocytic receptors, mediating endocytosis through a mechanism independent of clathrin
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule other,
  • preferentially binds to alpha-2,6-linked sialic acid
    • protein
  • interacting with PTPN6, PTNN11 upon phosphorylation
  • CD14 is an endogenous ligand for CD33 and ligation of CD33 with CD14 modulates with the presentation of LPS from CD14 to TLR4, leading to down-regulation of TLR4-mediated signaling
    • cell & other
    REGULATION
    Other phosphorylation regulated by PKC downstream of cytokine stimulation, and its phosphorylation is cross-regulated with its lectin activity
    up-regulated by CEBPA
    down-regulated by IL6 activation, that upregulates MYC, followed by the down-regulation of CEBPA expression, and thus downregulation of CD33
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    expressed in multinuclear osteoclast-like cells in giant cell tumor of bone
    Susceptibility to Alzheimer disease
    Variant & Polymorphism SNP
  • strongly associated with Alzheimer disease
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS