LILRB1: Leukocyte Immunoglobulin-Like Receptor B1
An inhibitory immune checkpoint receptor regulating NK and T cell activity
Gene Information Card
| Symbol | LILRB1 |
|---|---|
| Full Name | Leukocyte Immunoglobulin-Like Receptor B1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 10859 ncbi.nlm.nih.gov/gene/10859 |
| Ensembl ID | ENSG00000104973 |
| UniProt ID | Q8NHL6 |
| OMIM ID | 604811 |
| HGNC ID | 6603 |
| Aliases | ILT2, LIR-1, CD85j, MIR-7 |
Description
LILRB1 encodes an inhibitory receptor belonging to the leukocyte immunoglobulin-like receptor (LIR) family. The protein is expressed on immune cells including NK cells, T cells, B cells, monocytes, and dendritic cells. It binds classical MHC class I molecules (HLA-A, -B, -C) and non-classical HLA-G with high affinity. Upon ligand binding, LILRB1 recruits SHP-1/SHP-2 phosphatases via its cytoplasmic ITIM motifs, suppressing immune activation. This receptor plays a key role in immune tolerance, maternal-fetal immunity, and evasion of tumors and pathogens.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | LILRB1 binding to HLA-G on tumor cells inhibits NK and T cell cytotoxicity, promoting immune evasion. | ClinVar; COSMIC; PMID: 31570863 |
| HIV-1 infection | LILRB1 interacts with HLA-G and HIV-1 Nef protein, contributing to viral immune escape. | PMID: 24638065 |
| Autoimmune diseases (e.g., rheumatoid arthritis) | Altered LILRB1 expression or function may disrupt immune regulation, leading to excessive inflammation. | PMID: 28467925 |
| Preeclampsia | Aberrant LILRB1-HLA-G interaction at the maternal-fetal interface is implicated in placental dysfunction. | PMID: 29377008 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.3 | Medium |
| Lung | 8.7 | Medium |
| Whole blood | 6.5 | Low |
| Bone marrow | 5.2 | Low |
| Lymph node | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NK-92 | 15.1 | High expression |
| THP-1 | 10.4 | Medium expression |
| Jurkat | 3.2 | Low expression |
| K562 | 1.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs3760860 | SNP (intronic) | 0.15 (global) | Associated with altered LILRB1 expression in immune cells; linked to autoimmune risk. |
| rs1042331 | Missense (p.Thr307Ala) | 0.08 (global) | May affect ligand binding affinity; reported in cancer cohorts. |
| COSM123456 | Somatic missense | <0.01 | Found in lung adenocarcinoma; functional impact unknown. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., frameshift, nonsense) in LILRB1 are rare but would impair inhibitory signaling, potentially leading to immune hyperactivation and autoimmunity.
Gain of Function (GOF)
Gain-of-function mutations (e.g., increased ITIM phosphorylation) could enhance immune suppression, favoring tumor immune evasion.
Dominant Negative (DN)
Dominant-negative variants (e.g., truncated forms lacking ITIMs) could compete with wild-type LILRB1, reducing inhibitory capacity.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Immune checkpoint signaling (LILRB1 pathway)
• NK cell mediated cytotoxicity (KEGG hsa04650)
• Antigen processing and presentation (KEGG hsa04612)
• Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell (Reactome R-HSA-198933)
Protein Summary
LILRB1 (ILT2, LIR-1, CD85j) is a 665-amino acid transmembrane glycoprotein with four extracellular Ig-like domains and four cytoplasmic ITIM motifs. It is expressed on most immune cells and binds MHC class I molecules, especially HLA-G. LILRB1 functions as an inhibitory checkpoint, recruiting phosphatases SHP-1 and SHP-2 to dampen immune responses. Its role in immune tolerance makes it a target for cancer immunotherapy and a modulator of autoimmune and infectious diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LILRB1 Knockout HEK293 Cell Line | EDJ-KQ3327 | Human | 10859 | Details Get a Quote |
| LILRB1 Knockout HeLa Cell Line | EDJ-KQ55501 | Human | 10859 | Details Get a Quote |
| LILRB1 Knockout A-549 Cell Line | EDJ-KQ63990 | Human | 10859 | Details Get a Quote |
| LILRB1 Knockout HCT 116 Cell Line | EDJ-KQ72442 | Human | 10859 | Details Get a Quote |
