CD1E Gene: Function, Expression, and Disease Associations | Biomedical SEO

The CD1E gene encodes the CD1e protein, a member of the CD1 family of transmembrane glycoproteins. Unlike other CD1 proteins that present lipid antigens to T cells at the cell surface, CD1e is primarily expressed intracellularly in the Golgi apparatus and late endosomes/lysosomes of antigen-presenting cells. It functions as a lipid transfer protein, facilitating the processing and loading of complex glycolipid antigens onto CD1b molecules for presentation to T cells. CD1e is essential for the immune response against mycobacterial lipids and plays a role in the regulation of lipid antigen presentation.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Antigen processing and presentation (KEGG hsa04612)

• Tuberculosis (KEGG hsa05152)

• Leishmaniasis (KEGG hsa05140)

• Phagosome (KEGG hsa04145)

The CD1e protein is a 333-amino-acid type I transmembrane glycoprotein with a molecular weight of approximately 37 kDa (unglycosylated). It consists of three extracellular domains (alpha1, alpha2, alpha3) and a short cytoplasmic tail. Unlike CD1a, CD1b, and CD1c, CD1e is not expressed on the cell surface but resides in the Golgi and late endosomes. It is synthesized as a proprotein that is cleaved into a soluble form by proteases in acidic compartments. The soluble CD1e binds glycolipids and facilitates their loading onto CD1b by acting as a lipid transfer protein. CD1e is essential for the presentation of complex mycobacterial lipids, such as mycolic acids and lipoarabinomannan, to T cells. Its expression is restricted to antigen-presenting cells, including dendritic cells, macrophages, and B cells, and is regulated by microbial stimuli and inflammatory cytokines.