CD1E Gene Summary [Human]

This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes within Golgi compartments, endosomes, and lysosomes, and is cleaved into a stable soluble form. The soluble form is required for the intracellular processing of some glycolipids into a form that can be presented by other CD1 family members. Many alternatively spliced transcript variants encoding different isoforms have been described. Additional transcript variants have been found; however, their biological validity has not been determined. [provided by RefSeq, Jun 2010]

Details

Type
Protein Coding
Official Symbol
CD1E
Official Name
CD1e molecule [Source:HGNC Symbol;Acc:HGNC:1638]
Ensembl ID
ENSG00000158488
Bio databases IDs NCBI: 913 Ensembl: ENSG00000158488
Aliases CD1e molecule
Synonyms CD1A, CD1e antigen, CD1e molecule, R2
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CD1E often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • MHC-I family domain
  • Immunoglobulin C1-set domain
  • immunoglobulin domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • diabetic nephropathy
regulated by
  • ENDOGLYCOSIDASE H
  • lipopolysaccharide
  • IL13
  • TNF
  • bafilomycin A1
  • Influenza A virus (A/Bangkok/RX73(H3N2))
  • chloroquine
  • mir-34 (includes others)
  • TAL1
  • ammonium chloride
regulates
  • lipid
  • mannosidase
  • glycolipid
  • phosphatidyl-myo-inositol hexamannoside
role in cell
  • activation
  • antigen presentation in
  • processing in
  • recognition in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • intracellular compartment
  • intracellular space
  • cellular membrane
  • Golgi Apparatus
  • Endoplasmic Reticulum
  • trans Golgi network
  • nucleoli
  • early endosomes
  • late endosomes

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CD1E gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • immune response
  • adaptive immune response
  • antigen processing and presentation, exogenous lipid antigen via MHC class Ib
  • antigen processing and presentation, endogenous lipid antigen via MHC class Ib
  • positive regulation of T cell mediated cytotoxicity

Cellular Component

Where in the cell the gene product is active
  • early endosome
  • extracellular space
  • external side of plasma membrane
  • late endosome
  • lysosomal lumen
  • Golgi membrane
  • Golgi apparatus
  • nucleolus
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • exogenous lipid antigen binding
  • endogenous lipid antigen binding
  • lipopeptide binding

Gene-Specific Assays for Results You Can Trust

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