LRP3 Gene - LDL Receptor Related Protein 3
Comprehensive genomic and proteomic analysis of LRP3, a member of the low-density lipoprotein receptor family involved in endocytosis and signaling.
Gene Information Card
| Symbol | LRP3 |
|---|---|
| Full Name | LDL Receptor Related Protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.11 |
| NCBI Gene ID | 4037 ncbi.nlm.nih.gov/gene/4037 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | O75074 |
| OMIM ID | 603159 |
| HGNC ID | 6696 |
| Aliases | LRP-3, LRP3_HUMAN |
Description
LRP3 (LDL Receptor Related Protein 3) is a protein-coding gene belonging to the low-density lipoprotein (LDL) receptor family. The encoded protein functions as a receptor for endocytosis of ligands, including lipoproteins and proteases, and may play roles in cellular signaling and lipid metabolism. LRP3 is expressed in various tissues and is implicated in several diseases, including cancer and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer Disease | LRP3 may modulate amyloid-beta clearance via endocytic pathways; altered expression linked to disease risk. | ClinVar, NCBI GeneRIF |
| Coronary Artery Disease | Polymorphisms in LRP3 associated with lipid metabolism and atherosclerosis susceptibility. | NCBI GeneRIF, OMIM |
| Hepatocellular Carcinoma | LRP3 overexpression correlates with tumor progression and poor prognosis. | COSMIC, NCBI GeneRIF |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Brain | 6.1 | Low |
| Lung | 4.7 | Low |
| Heart | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.8 | Hepatocellular carcinoma cell line; high expression |
| HEK293 | 9.4 | Embryonic kidney cells; moderate expression |
| SH-SY5Y | 5.1 | Neuroblastoma cell line; low expression |
| A549 | 3.6 | Lung carcinoma cell line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | <0.01% | Altered ligand binding; potential loss of function |
| c.2045C>T (p.Pro682Leu) | Missense | <0.01% | Unknown functional effect |
| c.2789_2790insA | Frameshift | <0.01% | Predicted loss of function via nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, impairing endocytic function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • low-density lipoprotein particle receptor activity (GO:0005041) | • receptor-mediated endocytosis (GO:0006898) |
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
| • steroid metabolic process (GO:0008202) |
Pathways
• Endocytosis (KEGG: hsa04144)
• Lipoprotein metabolism (Reactome: R-HSA-174824)
Protein Summary
LRP3 encodes a 770-amino acid transmembrane protein with multiple ligand-binding repeats, a transmembrane domain, and a cytoplasmic tail containing endocytosis signals. The protein is involved in receptor-mediated endocytosis of various ligands, including lipoproteins and proteases, and may participate in cellular signaling pathways. It is expressed in liver, kidney, brain, and other tissues, with highest levels in liver. Mutations in LRP3 are rare but may contribute to altered lipid metabolism and disease susceptibility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NLRP3 Knockout MARC145 Cell Line | EDJ-KQ78172 | African green monkey | 114548 | Details Get a Quote |
| Nlrp3 Knockout BV-2 Cell Line | EDC90056 | Mouse | 216799 | Details Get a Quote |
| LRP3 Knockout HEK293 Cell Line | EDJ-KQ2379 | Human | 4037 | Details Get a Quote |
| NLRP3 Knockout HEK293 Cell Line | EDJ-KQ17888 | Human | 114548 | Details Get a Quote |
| LRP3 Knockout A-549 Cell Line | EDJ-KQ22848 | Human | 4037 | Details Get a Quote |
| LRP3 Knockout HCT 116 Cell Line | EDJ-KQ22849 | Human | 4037 | Details Get a Quote |
| LRP3 Knockout HeLa Cell Line | EDJ-KQ22850 | Human | 4037 | Details Get a Quote |
| NLRP3 Knockout THP-1 Cell Line | EDJ-KZ367 | Human | 114548 | Details Get a Quote |
| NLRP3 Knockout HeLa Cell Line | EDJ-KQ57921 | Human | 114548 | Details Get a Quote |
| NLRP3 Knockout A-549 Cell Line | EDJ-KQ66411 | Human | 114548 | Details Get a Quote |
| NLRP3 Knockout HCT 116 Cell Line | EDJ-KQ74837 | Human | 114548 | Details Get a Quote |
Displaying Records 1 To 11 Of 11 Records
