CD1C Gene: CD1c Molecule
Antigen-presenting glycoprotein of the CD1 family, involved in lipid antigen presentation to T cells.
Gene Information Card
| Symbol | CD1C |
|---|---|
| Full Name | CD1c molecule |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.1 |
| NCBI Gene ID | 911 ncbi.nlm.nih.gov/gene/911 |
| Ensembl ID | ENSG00000158481 |
| UniProt ID | P29017 |
| OMIM ID | 188340 |
| HGNC ID | 1637 |
| Aliases | CD1, CD1A, R7 |
Description
The CD1C gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to major histocompatibility complex (MHC) molecules and function in the presentation of lipid and glycolipid antigens to T cells. CD1c is expressed primarily on cortical thymocytes, a subset of B cells, and dendritic cells. It plays a key role in the immune response against microbial lipids.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Langerhans cell histiocytosis | Aberrant CD1c expression on Langerhans cells; potential role in pathogenesis. | PMID: 25605271 |
| Mycobacterium tuberculosis infection | CD1c presents mycobacterial lipid antigens to T cells, contributing to host defense. | PMID: 10647931 |
| Leukemia (B-cell chronic lymphocytic leukemia) | CD1c expression on malignant B cells may influence disease progression. | PMID: 10706799 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Blood | 8.9 | Medium |
| Bone marrow | 6.3 | Low |
| Thymus | 15.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocytic leukemia) | 14.7 | High expression |
| MOLT-4 (T-cell lymphoblastic) | 2.1 | Low expression |
| K-562 (chronic myelogenous leukemia) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown functional effect |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) likely abolish protein expression.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • antigen binding (GO:0003823) | • plasma membrane (GO:0005886) |
| • antigen processing and presentation (GO:0019882) | • peptide antigen binding (GO:0042605) |
Pathways
• Lipid antigen presentation via CD1 (Reactome: R-HSA-1236974)
• Adaptive immune system (Reactome: R-HSA-1280218)
Protein Summary
CD1c is a 333-amino-acid transmembrane glycoprotein with a molecular weight of approximately 37 kDa. It consists of three extracellular domains (α1, α2, α3) and a short cytoplasmic tail. The α1 and α2 domains form a deep hydrophobic groove that accommodates lipid antigens. CD1c is expressed on the cell surface and recycles through endosomal compartments to load lipid antigens.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD1C Knockout HEK293 Cell Line | EDJ-KQ4211 | Human | 911 | Details Get a Quote |
| CD1C Knockout HeLa Cell Line | EDJ-KQ52808 | Human | 911 | Details Get a Quote |
| CD1C Knockout A-549 Cell Line | EDJ-KQ61279 | Human | 911 | Details Get a Quote |
| CD1C Knockout HCT 116 Cell Line | EDJ-KQ69774 | Human | 911 | Details Get a Quote |
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