APOL6: Apolipoprotein L6
A member of the apolipoprotein L family implicated in lipid metabolism and cellular signaling
Gene Information Card
| Symbol | APOL6 |
|---|---|
| Full Name | Apolipoprotein L6 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q12.3 |
| NCBI Gene ID | 80830 ncbi.nlm.nih.gov/gene/80830 |
| Ensembl ID | ENSG00000100221 |
| UniProt ID | Q9BWW8 |
| OMIM ID | 607256 |
| HGNC ID | 14871 |
| Aliases | APOL-VI, APOL6a, APOL6b |
Description
APOL6 (Apolipoprotein L6) is a protein-coding gene located on chromosome 22q12.3. It belongs to the apolipoprotein L family, which is involved in lipid transport, metabolism, and innate immunity. The encoded protein contains a signal peptide and a Bcl-2 homology domain, suggesting roles in apoptosis and cellular stress responses. APOL6 is expressed in various tissues, with highest levels in the placenta, lung, and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic kidney disease | APOL6 variants may contribute to podocyte injury and renal fibrosis, similar to APOL1 risk alleles. | ClinVar, literature |
| Pre-eclampsia | Altered APOL6 expression in placental tissue may affect trophoblast function and vascular remodeling. | NCBI Gene, literature |
| Cancer (multiple types) | APOL6 expression changes observed in breast, lung, and ovarian cancers; potential role in tumor progression. | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.5 | High |
| Lung | 8.3 | Medium |
| Kidney | 7.1 | Medium |
| Liver | 5.9 | Medium |
| Heart | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cells |
| A549 | 7.8 | Lung carcinoma cells |
| HepG2 | 6.5 | Hepatocellular carcinoma cells |
| MCF7 | 4.3 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.442G>A (p.Glu148Lys) | Missense | 0.02% (gnomAD) | Unknown functional impact |
| c.1003C>T (p.Arg335Trp) | Missense | 0.01% (gnomAD) | Predicted damaging by SIFT |
| c.1250_1251insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants likely lead to truncated protein and loss of function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not established for APOL6.
View complete mutation data：
Gene Ontology (GO)
| • lipid transport (GO:0006869) | • protein heterodimerization activity (GO:0046982) |
| • apoptotic process (GO:0006915) | • identical protein binding (GO:0042802) |
| • cytoplasm (GO:0005737) |
Pathways
• Lipid metabolism and transport
• Apoptosis signaling
• Innate immune response
Protein Summary
Apolipoprotein L6 is a 359-amino acid protein with a predicted molecular weight of ~41 kDa. It contains a signal peptide (residues 1-23) and a Bcl-2 homology domain (BH3), which is characteristic of pro-apoptotic proteins. APOL6 is localized to the cytoplasm and may be secreted. It is involved in lipid binding and transport, and may modulate apoptosis and cellular stress responses. Expression is regulated by cytokines and hypoxia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APOL6 Knockout HEK293 Cell Line | EDJ-KQ9582 | Human | 80830 | Details Get a Quote |
| APOL6 Knockout A-549 Cell Line | EDJ-KQ36408 | Human | 80830 | Details Get a Quote |
| APOL6 Knockout HeLa Cell Line | EDJ-KQ57351 | Human | 80830 | Details Get a Quote |
| APOL6 Knockout HCT 116 Cell Line | EDJ-KQ74281 | Human | 80830 | Details Get a Quote |
