HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CD1E
CD1e molecule
Chromosome 1 · 1q23.1
NCBI Gene: 913Ensembl: ENSG00000158488.17HGNC: HGNC:1638UniProt: A2RRL5
40PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Golgi apparatusexogenous lipid antigen bindinglipopeptide bindingpositive regulation of T cell mediated cytotoxicityneurodegenerative diseaseGuillain-Barre syndromelung adenocarcinomaCOVID-19
✦AI Summary

CD1E encodes a specialized antigen-presenting molecule that functions in glycolipid recognition and presentation to immune cells. Unlike other CD1 family members, CD1E remains predominantly intracellular, accumulating in the Golgi apparatus of immature dendritic cells and late endosomes of mature dendritic cells, where it is cleaved to generate a soluble form 1. The soluble CD1E binds diacetylated lipids, including phosphatidyl inositides and sulfoglycolipids, which is essential for presenting these non-peptidic glycolipid antigens to CD1-restricted T cells 2. CD1E polymorphisms, particularly in exon 2, show significant ethnic variation and associate with autoimmune disease susceptibility. The CD1E*02/02 genotype correlates with increased risk of multiple sclerosis (OR 2.45) 2 and celiac disease (OR 2.93) 3, likely due to altered immune responses to lipid antigens. However, CD1E polymorphisms were not associated with Guillain-Barré syndrome susceptibility in Bangladeshi populations 4. Notably, the CD1E*02 allele is highly prevalent in Sub-Saharan Africans (87%) but rare in Europeans (36%), suggesting population-specific disease associations 5. CD1E expression positively correlates with dendritic cell populations and predicts favorable immunotherapy responses in cancer patients 6, indicating clinical relevance in both autoimmune and oncologic contexts.

Sources cited
1
CD1E remains intracellular in Golgi and late endosomes where it is cleaved to soluble form
PMID: 12671734
2
CD1E presents glycolipid antigens to T cells; CD1E*02/02 increases MS risk (OR 2.45)
PMID: 21496400
3
CD1E*02/02 homozygous genotype increases celiac disease susceptibility (OR 2.93)
PMID: 32467040
4
CD1E polymorphisms not associated with Guillain-Barré syndrome in Bangladeshi population
PMID: 29301656
5
CD1E*02 allele frequency is 87% in Sub-Saharan Africans versus 36% in Europeans
PMID: 30576703
6
CD1E expression correlates with dendritic cells and predicts anti-PD1 immunotherapy response
PMID: 40404793
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
Guillain-Barre syndromeOpen Targets
0.07Suggestive
lung adenocarcinomaOpen Targets
0.06Suggestive
COVID-19Open Targets
0.04Suggestive
Decreased total leukocyte countOpen Targets
0.04Suggestive
adolescent idiopathic scoliosisOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
posterior cortical atrophyOpen Targets
0.01Suggestive
myeloid sarcomaOpen Targets
0.01Suggestive
dilated cardiomyopathyOpen Targets
0.01Suggestive
multiple sclerosisOpen Targets
0.01Suggestive
ovarian cancerOpen Targets
0.01Suggestive
adrenal cortex carcinomaOpen Targets
0.01Suggestive
Ischemic strokeOpen Targets
0.01Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
Primary amenorrheaOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
psoriatic arthritisOpen Targets
0.01Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
Tetralogy of FallotOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CD8AProtein interaction100%CD5Protein interaction100%CD40LGProtein interaction98%IL4Protein interaction97%CD80Protein interaction96%CD86Protein interaction96%
Tissue Expression6 tissues
Lung
100%
Heart
70%
Liver
32%
Ovary
5%
Brain
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CD1ECD8ACD5CD40LGIL4CD80CD86
PROTEIN STRUCTURE
Preparing viewer…
PDB3S6C · 2.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.52LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.21 [0.97–1.52]
RankingsWhere CD1E stands among ~20K protein-coding genes
  • #10,143of 20,598
    Most Researched40
  • #15,256of 17,882
    Most Constrained (LOEUF)1.52
Genes detectedCD1E
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CD1 gene polymorphism and susceptibility to celiac disease: Association of CD1E*02/02 in Moroccans.
PMID: 32467040
Hum Immunol · 2020
1.00
2
CD1A and CD1E gene polymorphisms are associated with susceptibility to multiple sclerosis.
PMID: 21496400
Int J Immunopathol Pharmacol · 2011
0.90
3
CD1A and CD1E gene polymorphisms are not associated with susceptibility to Guillain-Barré syndrome in the Bangladeshi population.
PMID: 29301656
J Neuroimmunol · 2018
0.80
4
Ethnic differences in CD1E, but not CD1A, gene polymorphisms between Sub-Saharan Africans, West Asians and Europeans.
PMID: 30576703
Hum Immunol · 2019
0.70
5
Polymorphism of human CD1a, CD1d, and CD1e in exon 2 in Chinese Han and She ethnic populations.
PMID: 20136774
Tissue Antigens · 2010
0.60