CD1D Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the CD1D gene, encoding a lipid antigen-presenting protein involved in immune regulation and disease.
Gene Information Card
| Symbol | CD1D |
|---|---|
| Full Name | CD1d molecule |
| Gene Type | protein coding |
| Chromosomal Location | 1q23.1 |
| NCBI Gene ID | 912 ncbi.nlm.nih.gov/gene/912 |
| Ensembl ID | ENSG00000158473 |
| UniProt ID | P15813 |
| OMIM ID | 188410 |
| HGNC ID | 1637 |
| Aliases | CD1A, R3G1 |
Description
The CD1D gene encodes the CD1d protein, a member of the CD1 family of transmembrane glycoproteins. CD1d is expressed on the surface of various antigen-presenting cells and is specialized in presenting lipid and glycolipid antigens to invariant natural killer T (iNKT) cells. This interaction plays a critical role in innate and adaptive immune responses, influencing autoimmunity, infection, and tumor surveillance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic lupus erythematosus (SLE) | Reduced CD1d expression on B cells and dendritic cells may impair iNKT cell activation, leading to altered immune tolerance and autoantibody production. | PMID: 21727135; 23459127 |
| Rheumatoid arthritis (RA) | Altered CD1d expression and iNKT cell function contribute to inflammatory cytokine production and joint damage. | PMID: 19155527 |
| Type 1 diabetes (T1D) | CD1d-mediated iNKT cell activation is protective; reduced CD1d expression may predispose to autoimmune beta-cell destruction. | PMID: 11861607 |
| Infectious diseases (e.g., tuberculosis, malaria) | CD1d presents mycobacterial and parasitic lipid antigens to iNKT cells, contributing to pathogen clearance and immune regulation. | PMID: 15657948; 17277152 |
| Cancer (e.g., hepatocellular carcinoma, multiple myeloma) | Tumor cells often downregulate CD1d to evade iNKT cell-mediated antitumor immunity; restoring CD1d expression may enhance immunotherapy. | PMID: 20534321; 22308364 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 0.8 | Low |
| Spleen | 1.2 | Low |
| Lymph node | 1.5 | Low |
| Bone marrow | 0.5 | Low |
| Thymus | 0.6 | Low |
| Blood | 0.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| B lymphocytes | 0.4 | CD1d expressed on mature B cells |
| Dendritic cells | 0.7 | High expression on myeloid DCs |
| Monocytes | 0.2 | Low expression |
| Hepatocytes | 0.1 | Minimal expression |
| T cells | 0.0 | Not expressed on resting T cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs859299 | SNV | 0.1% (global) | May affect CD1d expression or function; associated with autoimmune risk in some populations. |
| rs2241880 | SNV | 5% (global) | Intronic variant; potential regulatory effect on CD1d expression. |
| c.1A>G (p.Met1Val) | Missense | Rare | Disrupts translation initiation; likely loss of function. |
| c.100C>T (p.Arg34Cys) | Missense | Rare | Alters protein structure; may impair lipid binding. |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce CD1d expression or disrupt lipid antigen binding lead to impaired iNKT cell activation, contributing to autoimmune susceptibility and reduced tumor immunity.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported; overexpression of CD1d may enhance iNKT activation but is not typically pathogenic.
Dominant Negative (DN)
No dominant-negative mutations have been described for CD1D.
View complete mutation data：
Gene Ontology (GO)
| • antigen binding | • lipid binding |
| • beta-2-microglobulin binding | • immune response |
| • antigen processing and presentation of exogenous lipid antigen via MHC class Ib | • positive regulation of T cell activation |
| • innate immune response | • cell surface receptor signaling pathway |
Pathways
• Antigen processing and presentation (KEGG hsa04612)
• Natural killer cell mediated cytotoxicity (KEGG hsa04650)
• T cell receptor signaling pathway (KEGG hsa04660)
• iNKT cell activation (Reactome: R-HSA-1236974)
Protein Summary
The CD1d protein is a 333-amino acid type I transmembrane glycoprotein with a heavy chain that associates with beta-2-microglobulin. It consists of extracellular alpha1 and alpha2 domains forming a hydrophobic groove that accommodates lipid antigens. CD1d is primarily expressed on antigen-presenting cells and thymocytes. Upon lipid antigen presentation, CD1d engages the T cell receptor on iNKT cells, triggering rapid cytokine production and modulating immune responses. CD1d is also involved in the development and function of iNKT cells, and its dysregulation is linked to autoimmune diseases and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD1D Knockout HEK293 Cell Line | EDJ-KQ423 | Human | 912 | Details Get a Quote |
| CD1D Knockout HeLa Cell Line | EDJ-KQ52809 | Human | 912 | Details Get a Quote |
| CD1D Knockout A-549 Cell Line | EDJ-KQ61280 | Human | 912 | Details Get a Quote |
| CD1D Knockout HCT 116 Cell Line | EDJ-KQ69775 | Human | 912 | Details Get a Quote |
| CD1D Overexpression K-562 Stable Cell Line | EDJ-GQ113 | Human | 912 | Details Get a Quote |
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