APOBR: Apolipoprotein B Receptor
A key receptor for dietary lipid absorption and chylomicron metabolism
Gene Information Card
| Symbol | APOBR |
|---|---|
| Full Name | apolipoprotein B receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 55911 ncbi.nlm.nih.gov/gene/55911 |
| Ensembl ID | ENSG00000103175 |
| UniProt ID | Q8N4F0 |
| OMIM ID | 605708 |
| HGNC ID | 24090 |
| Aliases | APOB100R, MGC150433, MGC150434 |
Description
APOBR (apolipoprotein B receptor) encodes a receptor that binds apolipoprotein B-100 and apolipoprotein B-48, facilitating the hepatic uptake of chylomicron remnants and LDL particles. It plays a critical role in dietary lipid absorption and cholesterol homeostasis. Mutations in APOBR are associated with altered lipid metabolism and hypercholesterolemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypercholesterolemia, familial, modifier of | Loss-of-function variants reduce hepatic clearance of chylomicron remnants, leading to elevated LDL cholesterol | ClinVar, OMIM |
| Hypertriglyceridemia | Impaired APOBR-mediated uptake of triglyceride-rich lipoproteins | NCBI Gene, PubMed |
| Coronary artery disease | Dysfunctional APOBR contributes to atherogenic lipid profile | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Small intestine | 8.3 | Medium |
| Adipose tissue | 5.1 | Low |
| Kidney | 4.7 | Low |
| Heart | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocyte cell line |
| Caco-2 | 9.8 | Intestinal epithelial cell line |
| THP-1 | 6.4 | Monocyte/macrophage cell line |
| HeLa | 2.1 | Cervical cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1058C>T (p.Thr353Ile) | Missense | 0.02% (gnomAD) | Reduced receptor activity; associated with hypercholesterolemia |
| c.1246G>A (p.Gly416Ser) | Missense | 0.01% (gnomAD) | Impaired ligand binding; linked to hypertriglyceridemia |
| c.1435C>T (p.Arg479Trp) | Missense | 0.005% (gnomAD) | Loss of function; reported in familial hypercholesterolemia |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Thr353Ile, p.Arg479Trp) reduce receptor-mediated endocytosis of chylomicron remnants, leading to elevated plasma lipids.
Gain of Function (GOF)
No gain-of-function mutations have been reported for APOBR.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for APOBR.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Chylomicron remnant clearance (Reactome: R-HSA-8963898)
• Lipoprotein metabolism (Reactome: R-HSA-174824)
• Clathrin-mediated endocytosis (Reactome: R-HSA-8856828)
Protein Summary
APOBR is a transmembrane receptor belonging to the LDL receptor family. It is primarily expressed in the liver and small intestine, where it binds apolipoprotein B-100 and B-48 to mediate the endocytosis of chylomicron remnants and LDL particles. The protein contains ligand-binding repeats, an EGF-like domain, and a cytoplasmic tail with NPXY motif for clathrin-mediated internalization. Defects in APOBR impair lipid clearance and contribute to hypercholesterolemia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APOBR Knockout HEK293 Cell Line | EDJ-KQ51481 | Human | 55911 | Details Get a Quote |
| APOBR Knockout HeLa Cell Line | EDJ-KQ56653 | Human | 55911 | Details Get a Quote |
| APOBR Knockout A-549 Cell Line | EDJ-KQ65159 | Human | 55911 | Details Get a Quote |
| APOBR Knockout HCT 116 Cell Line | EDJ-KQ73595 | Human | 55911 | Details Get a Quote |
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