LRPAP1
LDL Receptor Related Protein Associated Protein 1
Gene Information Card
| Symbol | LRPAP1 |
|---|---|
| Full Name | LDL Receptor Related Protein Associated Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p16.3 |
| NCBI Gene ID | 4043 ncbi.nlm.nih.gov/gene/4043 |
| Ensembl ID | ENSG00000138684 |
| UniProt ID | P30533 |
| OMIM ID | 104225 |
| HGNC ID | 6697 |
| Aliases | RAP, A2RAP, HBP44, MRAP, MYP23 |
Description
LRPAP1 encodes the receptor-associated protein (RAP), a chaperone that binds to members of the LDL receptor family, including LRP1 and LRP2. RAP prevents premature ligand binding during receptor trafficking and is essential for proper folding and transport of these receptors to the cell surface. It is primarily expressed in the liver, kidney, and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | Impaired LRP1-mediated clearance of amyloid-beta; RAP deficiency may reduce receptor function | PMID: 10692421 |
| Myopia 23 (MYP23) | Missense variants in LRPAP1 disrupt RAP chaperone activity, leading to altered scleral remodeling | PMID: 26063662 |
| Hypercholesterolemia | RAP dysfunction can impair hepatic LDL receptor family recycling, affecting lipid homeostasis | PMID: 11717416 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 31.2 | High |
| Kidney | 24.8 | High |
| Brain | 18.5 | Medium |
| Lung | 12.1 | Medium |
| Heart | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 35.6 | Hepatocellular carcinoma cell line |
| HEK293 | 22.4 | Embryonic kidney cells |
| SH-SY5Y | 15.7 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.647C>T (p.Pro216Leu) | Missense | <0.01% | Reduced RAP binding to LRP1; associated with myopia |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Missense or nonsense variants that reduce RAP chaperone activity or protein stability.
Gain of Function (GOF)
Not reported for LRPAP1.
Dominant Negative (DN)
Not reported for LRPAP1.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • extracellular matrix organization (GO:0030198) |
| • receptor complex (GO:0043235) | • unfolded protein binding (GO:0051082) |
| • regulation of vesicle-mediated transport (GO:0060627) |
Pathways
• LDL receptor family endocytosis (Reactome: R-HSA-8856825)
• Lipoprotein metabolism (KEGG: hsa04979)
Protein Summary
The LRPAP1 protein (RAP) is a 39 kDa chaperone that binds to the extracellular domains of LDL receptor family members, preventing premature ligand interaction. It is localized to the endoplasmic reticulum and Golgi, facilitating proper receptor folding and transport. RAP is highly expressed in tissues with active endocytic uptake, such as liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRPAP1 Knockout HEK293 Cell Line | EDJ-KQ5144 | Human | 4043 | Details Get a Quote |
| LRPAP1 Knockout A-549 Cell Line | EDJ-KQ28109 | Human | 4043 | Details Get a Quote |
| LRPAP1 Knockout HCT 116 Cell Line | EDJ-KQ28110 | Human | 4043 | Details Get a Quote |
| LRPAP1 Knockout HeLa Cell Line | EDJ-KQ28111 | Human | 4043 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
