LRP1B
LDL Receptor Related Protein 1B: A Tumor Suppressor Gene in Cancer Genomics
Gene Information Card
| Symbol | LRP1B |
|---|---|
| Full Name | LDL Receptor Related Protein 1B |
| Gene Type | Protein coding |
| Chromosomal Location | 2q22.1-q22.2 |
| NCBI Gene ID | 53353 ncbi.nlm.nih.gov/gene/53353 |
| Ensembl ID | ENSG00000168702 |
| UniProt ID | Q9NZR2 |
| OMIM ID | 608766 |
| HGNC ID | 6693 |
| Aliases | LRP-DIT, LRP1B, LRP-1B |
Description
LRP1B encodes a member of the low-density lipoprotein (LDL) receptor family, functioning as a tumor suppressor. The protein is involved in receptor-mediated endocytosis, cell signaling, and regulation of cell proliferation. Loss of LRP1B expression is frequently observed in various cancers, contributing to tumor progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung Cancer | Frequent deletions and mutations lead to loss of tumor suppressor function, promoting cell proliferation and invasion. | COSMIC, ClinVar |
| Esophageal Squamous Cell Carcinoma | Hypermethylation and copy number loss reduce LRP1B expression, associated with poor prognosis. | NCBI Gene, OMIM |
| Glioblastoma | Somatic mutations and deletions impair endocytic regulation, contributing to tumor growth. | COSMIC, ClinVar |
| Colorectal Cancer | LRP1B inactivation via mutation or deletion correlates with advanced stage and metastasis. | NCBI Gene, OMIM |
| Hepatocellular Carcinoma | Downregulation of LRP1B enhances Wnt/β-catenin signaling, driving oncogenesis. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Lung | 3.8 | Low |
| Liver | 2.1 | Low |
| Colon | 4.5 | Low |
| Esophagus | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung) | 1.2 | Low expression; frequent loss in lung cancer lines |
| HepG2 (Liver) | 0.8 | Very low expression |
| HT-29 (Colon) | 2.5 | Moderate expression |
| U87MG (Glioblastoma) | 1.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <1% in COSMIC | Truncation; loss of function |
| c.567_568del (p.Glu189fs) | Frameshift | <1% | Loss of protein function |
| c.2345G>A (p.Arg782His) | Missense | <1% | Unknown; likely damaging |
| Whole gene deletion | Copy number loss | ~5% in lung cancer | Complete loss of LRP1B |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations result in truncated or absent protein, impairing endocytosis and tumor suppression.
Gain of Function (GOF)
No gain-of-function mutations reported; LRP1B acts exclusively as a tumor suppressor.
Dominant Negative (DN)
No dominant-negative mutations characterized; loss of heterozygosity is the primary mechanism.
View complete mutation data：
Gene Ontology (GO)
| • Receptor-mediated endocytosis | • Cell surface receptor signaling pathway |
| • Lipoprotein metabolic process | • Negative regulation of cell proliferation |
| • Endocytic recycling |
Pathways
• LDL receptor family mediated endocytosis
• Wnt signaling pathway (regulation)
• Clathrin-mediated endocytosis
Protein Summary
LRP1B is a large transmembrane protein (approximately 4599 amino acids) belonging to the LDL receptor family. It contains multiple ligand-binding repeats, EGF-like domains, and a cytoplasmic NPxY motif for endocytosis. The protein mediates clearance of extracellular ligands, modulates cell signaling, and suppresses tumor growth. Loss of LRP1B expression is a hallmark of several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRP1B Knockout HEK293 Cell Line | EDJ-KQ11336 | Human | 53353 | Details Get a Quote |
| LRP1B Knockout HeLa Cell Line | EDJ-KQ39497 | Human | 53353 | Details Get a Quote |
| LRP1B Knockout A-549 Cell Line | EDJ-KQ64863 | Human | 53353 | Details Get a Quote |
| LRP1B Knockout HCT 116 Cell Line | EDJ-KQ73307 | Human | 53353 | Details Get a Quote |
