CD1B Gene: CD1b Molecule
A key antigen-presenting molecule for lipid-based immunity
Gene Information Card
| Symbol | CD1B |
|---|---|
| Full Name | CD1b molecule |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.1 |
| NCBI Gene ID | 910 ncbi.nlm.nih.gov/gene/910 |
| Ensembl ID | ENSG00000158485 |
| UniProt ID | P29016 |
| OMIM ID | 188360 |
| HGNC ID | 1635 |
| Aliases | CD1, CD1A, R1 |
Description
The CD1B gene encodes the CD1b protein, a member of the CD1 family of transmembrane glycoproteins. CD1b is expressed on the surface of antigen-presenting cells and is specialized in presenting lipid and glycolipid antigens to T cells, playing a critical role in the immune response against microbial pathogens, particularly mycobacteria.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Tuberculosis | CD1b presents mycobacterial lipid antigens (e.g., mycolic acid) to CD1b-restricted T cells, contributing to host defense. | PMID: 10799847 |
| Leprosy | CD1b-mediated lipid presentation influences T-cell responses in Mycobacterium leprae infection. | PMID: 10917520 |
| Autoimmune diseases | Altered CD1b expression may contribute to aberrant lipid antigen presentation in autoimmune conditions. | PMID: 14662845 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.3 | Medium |
| Spleen | 10.8 | Medium |
| Lung | 6.5 | Low |
| Skin | 4.2 | Low |
| Blood | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 15.2 | High expression |
| U937 (histiocytic lymphoma) | 12.8 | High expression |
| Jurkat (T-cell) | 1.5 | Low expression |
| HeLa (cervical carcinoma) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245G>A (p.Arg82His) | Missense | <0.01% | Unknown functional impact |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in CD1B.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CD1B.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in CD1B.
View complete mutation data：
Gene Ontology (GO)
| • antigen binding (GO:0003823) | • cytokine receptor activity (GO:0004896) |
| • antigen processing and presentation (GO:0019882) | • plasma membrane (GO:0005886) |
| • cell surface (GO:0009986) |
Pathways
• Lipid antigen presentation via CD1 (Reactome: R-HSA-1236974)
• Adaptive immune system (Reactome: R-HSA-1280218)
Protein Summary
CD1b is a 333-amino-acid transmembrane glycoprotein with a heavy chain and associated beta-2-microglobulin. It has a deep, hydrophobic antigen-binding groove that accommodates long-chain lipids and glycolipids. CD1b is primarily expressed on dendritic cells, macrophages, and B cells, where it surveys endosomal compartments for lipid antigens and presents them to T-cell receptors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD1B Knockout HEK293 Cell Line | EDJ-KQ4208 | Human | 910 | Details Get a Quote |
| CD1B Knockout HeLa Cell Line | EDJ-KQ52807 | Human | 910 | Details Get a Quote |
| CD1B Knockout A-549 Cell Line | EDJ-KQ61278 | Human | 910 | Details Get a Quote |
| CD1B Knockout HCT 116 Cell Line | EDJ-KQ69773 | Human | 910 | Details Get a Quote |
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