CD1A Gene: CD1a Molecule
Key regulator of lipid antigen presentation in the immune system
Gene Information Card
| Symbol | CD1A |
|---|---|
| Full Name | CD1a molecule |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.1 |
| NCBI Gene ID | 909 ncbi.nlm.nih.gov/gene/909 |
| Ensembl ID | ENSG00000158477 |
| UniProt ID | P06126 |
| OMIM ID | 188370 |
| HGNC ID | 1634 |
| Aliases | CD1, R4, T6 |
Description
The CD1A gene encodes CD1a, a transmembrane glycoprotein belonging to the CD1 family of MHC class I-like molecules. CD1a is primarily expressed on cortical thymocytes, Langerhans cells, and dendritic cells. It functions in the presentation of lipid and glycolipid antigens to T-cell receptors on CD1-restricted T cells, playing a critical role in immune responses against microbial pathogens, particularly mycobacteria. CD1a is also implicated in autoimmune and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Langerhans cell histiocytosis | CD1a overexpression on pathological Langerhans cells; aberrant immune activation | ClinVar; PMID: 25485634 |
| Mycobacterial infections (e.g., tuberculosis) | CD1a presents mycobacterial lipid antigens to T cells, facilitating immune recognition | NCBI Gene; PMID: 10647931 |
| Atopic dermatitis | Altered CD1a expression on Langerhans cells may contribute to skin inflammation | OMIM; PMID: 21963299 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Skin | 8.3 | Medium |
| Spleen | 6.1 | Low |
| Thymus | 4.7 | Low |
| Lung | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MUTZ-3 (dendritic cell line) | 15.2 | High expression; model for Langerhans cells |
| THP-1 (monocyte) | 0.8 | Low baseline; inducible |
| K562 (erythroleukemia) | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; functional impact unknown |
| c.200C>T (p.Thr67Ile) | missense | <0.01% | Rare variant; no known disease association |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in CD1A.
Gain of Function (GOF)
No gain-of-function mutations described.
Dominant Negative (DN)
No dominant-negative variants documented.
View complete mutation data：
Gene Ontology (GO)
Pathways
• CD1-mediated lipid antigen presentation (Reactome: R-HSA-1236974)
• Adaptive immune system (Reactome: R-HSA-1280218)
Protein Summary
CD1a is a 327-amino-acid type I transmembrane protein with three extracellular domains (α1, α2, α3) and a short cytoplasmic tail. It non-covalently associates with β2-microglobulin. The α1 and α2 domains form a deep hydrophobic groove that accommodates lipid antigens. CD1a is expressed on the surface of antigen-presenting cells and is internalized via clathrin-mediated endocytosis for lipid antigen loading. It is a key marker for Langerhans cells and is used diagnostically in Langerhans cell histiocytosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD1A Knockout HEK293 Cell Line | EDJ-KQ4207 | Human | 909 | Details Get a Quote |
| CD1A Knockout HeLa Cell Line | EDJ-KQ52806 | Human | 909 | Details Get a Quote |
| CD1A Knockout A-549 Cell Line | EDJ-KQ61277 | Human | 909 | Details Get a Quote |
| CD1A Knockout HCT 116 Cell Line | EDJ-KQ69772 | Human | 909 | Details Get a Quote |
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