AQP3: Aquaporin 3 (Gill Blood Group)
Gene encoding a water and glycerol channel protein involved in skin hydration, renal function, and tumor biology.
Gene Information Card
| Symbol | AQP3 |
|---|---|
| Full Name | Aquaporin 3 (Gill blood group) |
| Gene Type | protein-coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 360 ncbi.nlm.nih.gov/gene/360 |
| Ensembl ID | ENSG00000165272 |
| UniProt ID | Q92482 |
| OMIM ID | 600170 |
| HGNC ID | 636 |
| Aliases | GIL, AQP-3, aquaglyceroporin-3 |
Description
AQP3 encodes a member of the aquaporin family of water-selective membrane channels. This protein functions as a water and glycerol channel, facilitating transport across cell membranes. It is expressed in multiple tissues including kidney, skin, lung, and gastrointestinal tract, and plays roles in renal water reabsorption, skin hydration, and cell migration. Mutations in AQP3 are associated with the Gill blood group system.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gill blood group system | Loss of AQP3 function on erythrocytes leads to absence of the GIL antigen; individuals are GIL-negative but healthy. | OMIM #600170; ClinVar |
| Psoriasis | Upregulation of AQP3 in keratinocytes contributes to epidermal hyperplasia and altered water/glycerol homeostasis. | NCBI Gene; PubMed |
| Non-melanoma skin cancer | Increased AQP3 expression promotes cell proliferation and migration in squamous cell carcinoma and basal cell carcinoma. | COSMIC; PubMed |
| Colorectal cancer | AQP3 overexpression correlates with tumor progression and poor prognosis via enhanced glycerol uptake and ATP production. | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 28.5 | High |
| Skin | 22.1 | High |
| Lung | 15.3 | Medium |
| Colon | 12.7 | Medium |
| Prostate | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.2 | Embryonic kidney cells; high expression |
| HaCaT | 25.6 | Keratinocyte cell line; high expression |
| A549 | 14.1 | Lung carcinoma; moderate expression |
| HCT 116 | 11.3 | Colorectal carcinoma; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.433C>T (p.Arg145Cys) | Missense | Rare | Loss of water channel activity; associated with GIL-negative phenotype |
| c.488G>A (p.Arg163Gln) | Missense | Rare | Reduced glycerol permeability; reported in blood group variant |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of protein expression; GIL-null |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations that impair water/glycerol transport or abolish protein expression (e.g., p.Arg145Cys, p.Met1Val).
Gain of Function (GOF)
Not well documented; overexpression in cancers may be due to transcriptional upregulation rather than activating mutations.
Dominant Negative (DN)
No dominant-negative mutations reported for AQP3.
View complete mutation data：
Gene Ontology (GO)
| • water channel activity (GO:0015250) | • glycerol transmembrane transporter activity (GO:0015168) |
| • plasma membrane (GO:0005886) | • integral component of membrane (GO:0016021) |
| • water transport (GO:0006833) | • glycerol transport (GO:0015793) |
| • lung development (GO:0030324) | • epidermis development (GO:0008544) |
Pathways
• Aquaporin-mediated transport (Reactome: R-HSA-445717)
• Glycerophospholipid biosynthesis (Reactome: R-HSA-1483206)
• Transmembrane transport of small molecules (Reactome: R-HSA-382551)
Protein Summary
AQP3 is a 292-amino acid integral membrane protein with six transmembrane helices and two hemipores forming a central pore. It functions as a homotetramer, each monomer acting as an independent channel for water and glycerol. The protein is glycosylated and localized to the plasma membrane. Its glycerol transport activity is critical for skin hydration, renal medullary osmolyte balance, and energy metabolism in proliferating cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AQP3 Knockout HEK293 Cell Line | EDJ-KQ2030 | Human | 360 | Details Get a Quote |
| AQP3 Knockout A-549 Cell Line | EDJ-KQ23437 | Human | 360 | Details Get a Quote |
| AQP3 Knockout HCT 116 Cell Line | EDJ-KQ23439 | Human | 360 | Details Get a Quote |
| AQP3 Knockout HeLa Cell Line | EDJ-KQ23440 | Human | 360 | Details Get a Quote |
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