AQP1 Gene - Aquaporin 1
Water channel protein regulating fluid homeostasis and implicated in tumor angiogenesis
Gene Information Card
| Symbol | AQP1 |
|---|---|
| Full Name | Aquaporin 1 (Colton blood group) |
| Gene Type | protein-coding |
| Chromosomal Location | 7p14.3 |
| NCBI Gene ID | 358 ncbi.nlm.nih.gov/gene/358 |
| Ensembl ID | ENSG00000240583 |
| UniProt ID | P29972 |
| OMIM ID | 107776 |
| HGNC ID | 633 |
| Aliases | CHIP28, CO, AQP-1, aquaporin-CHIP |
Description
AQP1 encodes aquaporin 1, a water channel protein that facilitates rapid osmotic water transport across cell membranes. It is expressed in erythrocytes, kidney proximal tubules, choroid plexus, and vascular endothelium. AQP1 also functions as a CO2 and nitric oxide gas channel and is involved in cell migration, angiogenesis, and tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colton blood group system | AQP1 carries the Colton (Co) blood group antigens; null alleles cause Co(a-b-) phenotype | ClinVar, OMIM |
| Congenital nephrogenic diabetes insipidus (NDI) | Loss-of-function mutations impair water reabsorption in kidney collecting duct | ClinVar, OMIM |
| Lung cancer | AQP1 overexpression promotes tumor angiogenesis and metastasis | COSMIC, NCBI |
| Breast cancer | AQP1 upregulation correlates with poor prognosis and increased cell migration | COSMIC, NCBI |
| Cerebral edema | AQP1 expression in choroid plexus contributes to cerebrospinal fluid production and edema formation | NCBI, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 123.4 | High |
| Lung | 45.6 | Medium |
| Brain | 32.1 | Medium |
| Heart | 18.9 | Low |
| Liver | 5.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 78.3 | High expression in transfected cells |
| A549 (lung cancer) | 56.7 | Endogenous expression |
| MCF7 (breast cancer) | 42.1 | Moderate expression |
| HUVEC (endothelial) | 89.5 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.525C>T (p.Arg175Cys) | Missense | Rare | Loss of water channel function; associated with Colton null phenotype |
| c.127G>A (p.Gly43Arg) | Missense | Rare | Impaired trafficking to plasma membrane; NDI |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of protein; Colton null |
| c.456_458del (p.Phe152del) | Deletion | Rare | Folding defect; reduced water permeability |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations that disrupt water channel activity or membrane trafficking (e.g., p.Arg175Cys, p.Gly43Arg) are loss-of-function.
Gain of Function (GOF)
Not reported for AQP1.
Dominant Negative (DN)
No dominant-negative mutations have been described; AQP1 functions as a homotetramer but heterozygotes are usually asymptomatic.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Water transport (Reactome: R-HSA-445717)
• Aquaporin-mediated transport (Reactome: R-HSA-445733)
• Vasopressin-regulated water reabsorption (KEGG: hsa04962)
Protein Summary
Aquaporin 1 (AQP1) is a 28.5 kDa integral membrane protein that forms homotetramers, each monomer functioning as an independent water pore. It is the archetypal member of the aquaporin family, first identified as CHIP28. AQP1 is essential for rapid water movement in erythrocytes, kidney proximal tubules, and choroid plexus. It also facilitates CO2 and NO permeation and promotes cell migration and angiogenesis. Mutations cause Colton blood group null phenotypes and, rarely, nephrogenic diabetes insipidus. Overexpression in various cancers correlates with tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AQP10 Knockout HEK293 Cell Line | EDJ-KQ10529 | Human | 89872 | Details Get a Quote |
| AQP12B Knockout HEK293 Cell Line | EDJ-KQ11673 | Human | 653437 | Details Get a Quote |
| AQP11 Knockout HEK293 Cell Line | EDJ-KQ12401 | Human | 282679 | Details Get a Quote |
| AQP12A Knockout HEK293 Cell Line | EDJ-KQ12402 | Human | 375318 | Details Get a Quote |
| AQP11 Knockout A-549 Cell Line | EDJ-KQ41289 | Human | 282679 | Details Get a Quote |
| AQP11 Knockout HCT 116 Cell Line | EDJ-KQ41290 | Human | 282679 | Details Get a Quote |
| AQP11 Knockout HeLa Cell Line | EDJ-KQ41291 | Human | 282679 | Details Get a Quote |
| AQP1 Knockout HEK293 Cell Line | EDJ-KQ50127 | Human | 358 | Details Get a Quote |
| AQP1 Knockout HeLa Cell Line | EDJ-KQ52644 | Human | 358 | Details Get a Quote |
| AQP10 Knockout HeLa Cell Line | EDJ-KQ57747 | Human | 89872 | Details Get a Quote |
| AQP12A Knockout HeLa Cell Line | EDJ-KQ59920 | Human | 375318 | Details Get a Quote |
| AQP12B Knockout HeLa Cell Line | EDJ-KQ60646 | Human | 653437 | Details Get a Quote |
| AQP1 Knockout A-549 Cell Line | EDJ-KQ61117 | Human | 358 | Details Get a Quote |
| AQP10 Knockout A-549 Cell Line | EDJ-KQ66242 | Human | 89872 | Details Get a Quote |
| AQP12A Knockout A-549 Cell Line | EDJ-KQ68382 | Human | 375318 | Details Get a Quote |
Displaying Records 1 To 15 Of 20 Records
