APOL3: Apolipoprotein L3
A member of the apolipoprotein L family involved in lipid metabolism and innate immunity
Gene Information Card
| Symbol | APOL3 |
|---|---|
| Full Name | Apolipoprotein L3 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q12.3 |
| NCBI Gene ID | 80833 ncbi.nlm.nih.gov/gene/80833 |
| Ensembl ID | ENSG00000128284 |
| UniProt ID | O95236 |
| OMIM ID | 607256 |
| HGNC ID | 619 |
| Aliases | APOL-III, APOL3a, APOL3b |
Description
APOL3 (Apolipoprotein L3) is a protein-coding gene located on chromosome 22q12.3. It belongs to the apolipoprotein L family, which encodes proteins involved in lipid transport and metabolism. APOL3 is also implicated in innate immune responses, particularly against intracellular pathogens such as Trypanosoma brucei. The protein is expressed in various tissues, with highest levels in the pancreas, liver, and kidney. Variants in APOL3 have been associated with susceptibility to chronic kidney disease and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic Kidney Disease (CKD) | APOL3 variants may contribute to podocyte injury and renal fibrosis | ClinVar, OMIM |
| Trypanosomiasis resistance | APOL3 mediates lysis of Trypanosoma brucei via pore formation in the lysosomal membrane | UniProt, PubMed |
| Pancreatic cancer | Altered expression of APOL3 in pancreatic tumors suggests a role in tumor progression | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 45.2 | High |
| Liver | 32.8 | High |
| Kidney | 28.1 | High |
| Lung | 12.4 | Medium |
| Heart | 8.9 | Medium |
| Brain | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.6 | Cervical cancer cell line |
| HepG2 | 38.4 | Hepatocellular carcinoma cell line |
| A549 | 22.1 | Lung adenocarcinoma cell line |
| MCF7 | 9.8 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.442G>A (p.Gly148Arg) | Missense | 0.02% (gnomAD) | Unknown functional impact |
| c.1003C>T (p.Arg335Trp) | Missense | 0.01% (gnomAD) | Associated with CKD risk in some populations |
| c.1285_1286insA (p.Thr429AsnfsTer2) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr429AsnfsTer2) lead to truncated protein and loss of pore-forming activity.
Gain of Function (GOF)
Not well characterized; some missense variants may enhance cytotoxic activity.
Dominant Negative (DN)
Not reported for APOL3.
View complete mutation data：
Gene Ontology (GO)
| • lipid transport | • immune response |
| • pore formation | • apolipoprotein binding |
| • lysosomal membrane |
Pathways
• Lipid metabolism and transport
• Innate immune response to protozoan parasites
Protein Summary
The APOL3 protein is a 398-amino acid apolipoprotein that contains a signal peptide and a pore-forming domain. It is secreted and can associate with high-density lipoproteins (HDL). APOL3 exhibits lytic activity against Trypanosoma brucei by forming pores in the lysosomal membrane, leading to parasite death. In humans, it is expressed in multiple tissues and may play a role in lipid homeostasis and cellular defense.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APOL3 Knockout HEK293 Cell Line | EDJ-KQ2922 | Human | 80833 | Details Get a Quote |
| APOL3 Knockout HeLa Cell Line | EDJ-KQ24019 | Human | 80833 | Details Get a Quote |
| APOL3 Knockout A-549 Cell Line | EDJ-KQ65858 | Human | 80833 | Details Get a Quote |
| APOL3 Knockout HCT 116 Cell Line | EDJ-KQ74284 | Human | 80833 | Details Get a Quote |
