APOL5: Apolipoprotein L5
A member of the apolipoprotein L family with roles in lipid metabolism and potential links to kidney disease and cancer.
Gene Information Card
| Symbol | APOL5 |
|---|---|
| Full Name | Apolipoprotein L5 |
| Gene Type | Protein-coding |
| Chromosomal Location | 22q12.3 |
| NCBI Gene ID | 80831 ncbi.nlm.nih.gov/gene/80831 |
| Ensembl ID | ENSG00000100300 |
| UniProt ID | Q9BWW9 |
| OMIM ID | 607256 |
| HGNC ID | 619 |
| Aliases | APOL-V, APOL5a, APOL5b |
Description
APOL5 (Apolipoprotein L5) is a protein-coding gene belonging to the apolipoprotein L family. The encoded protein is involved in lipid transport and metabolism, and may play a role in the innate immune response. APOL5 is expressed in various tissues, with highest levels in the kidney, liver, and placenta. Variants in APOL5 have been associated with susceptibility to kidney disease and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic Kidney Disease | APOL5 variants may alter lipid metabolism in podocytes, contributing to glomerular injury. | PMID: 23431077 |
| Prostate Cancer | APOL5 expression is dysregulated in prostate tumors; potential role in lipid-mediated signaling. | PMID: 25691885 |
| Breast Cancer | APOL5 overexpression linked to poor prognosis; may influence lipid raft dynamics. | PMID: 27323850 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Liver | 8.3 | Medium |
| Placenta | 6.1 | Medium |
| Lung | 3.2 | Low |
| Prostate | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in embryonic kidney cells |
| HepG2 | 9.7 | Liver cancer cell line |
| MCF7 | 4.1 | Breast cancer cell line |
| PC3 | 3.5 | Prostate cancer cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.02% | Unknown functional effect |
| c.205G>A (p.Gly69Ser) | Missense | 0.01% | Reported in kidney disease cohort |
| c.312_313insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift insertion c.312_313insA likely leads to nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not established for APOL5.
View complete mutation data:
Gene Ontology (GO)
| • lipid transport (GO:0006869) | • high-density lipoprotein particle (GO:0034364) |
| • lipoprotein metabolic process (GO:0042157) | • extracellular space (GO:0005615) |
| • cytoplasm (GO:0005737) |
Pathways
• Lipoprotein metabolism (Reactome: R-HSA-174824)
• Innate immune system (Reactome: R-HSA-168249)
Protein Summary
Apolipoprotein L5 is a 342-amino acid protein that belongs to the apolipoprotein L family. It contains a conserved pore-forming domain and is predicted to function in lipid binding and transport. The protein is secreted and may associate with high-density lipoproteins. APOL5 is implicated in cellular lipid homeostasis and immune modulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APOL5 Knockout HEK293 Cell Line | EDJ-KQ3444 | Human | 80831 | Details Get a Quote |
| APOL5 Knockout HeLa Cell Line | EDJ-KQ57352 | Human | 80831 | Details Get a Quote |
| APOL5 Knockout A-549 Cell Line | EDJ-KQ65856 | Human | 80831 | Details Get a Quote |
| APOL5 Knockout HCT 116 Cell Line | EDJ-KQ74282 | Human | 80831 | Details Get a Quote |