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FLASH GENE

Symbol

CD33

contributors: mct/pgu - updated : 11-03-2015

HGNC name	CD33 molecule
HGNC id	1659

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001082618 6 - 1085 NP_001076087 - 237 - 2006 16380601 isoform 2, CD33m precursor NM_001772 7 - 1466 NP_001763 - 364 - 2006 16380601 isoform 1, CD33M precursor

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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