HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
AQP1
aquaporin 1 (Colton blood group)
Chromosome 7 Β· 7p14.3
NCBI Gene: 358Ensembl: ENSG00000240583.15HGNC: HGNC:633UniProt: A0A024RA31
377PubMed Papers
20Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Highly StudiedTrending
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
brush bordercytoplasmnucleuswater transmembrane transporter activityosteoporosisnephrolithiasisbone diseasebone fracture
✦AI Summary

AQP1 is a transmembrane water channel protein that facilitates water transport across cell membranes, maintaining cellular water homeostasis in diverse tissues including endothelial cells, kidney, and lung 123. Beyond water transport, AQP1 exhibits permeability to small solutes including hydrogen peroxide (H2O2), glycerol, ammonia, nitric oxide, and carbon dioxide, functioning as part of a CO2 metabolon linked to anion exchange in erythrocytes 42. In endothelial cells, AQP1 plays a context-dependent role in senescence and angiogenesis: in proliferating cells, AQP1 maintains angiogenic capacity, while in senescent cells, AQP1 overexpression exacerbates H2O2-induced senescence through CaMKII-AMPK-dependent pathways 4. Clinically, AQP1 variants associate with pulmonary arterial hypertension (PAH), with rare sequence variations showing familial segregation with disease 56. Additionally, a common AQP1 promoter variant (rs2075574) correlates with reduced peritoneal ultrafiltration and increased mortality risk in peritoneal dialysis patients 7. These findings establish AQP1 as a multifunctional channel with significant roles in cardiovascular and renal pathophysiology.

Sources cited
1
AQP1 facilitates H2O2 transmembrane transport and differentially regulates endothelial cell senescence through CaMKII-AMPK-dependent signaling
PMID: 39180980
2
Rare AQP1 variants are significantly overrepresented in pulmonary arterial hypertension cases and show familial segregation with disease
PMID: 29650961
3
AQP1 promoter variant rs2075574 associates with decreased peritoneal ultrafiltration and increased mortality in peritoneal dialysis patients
PMID: 34670044
4
AQP1 gene modulation affects BMP/TGF-Ξ² signaling pathway components in pulmonary microvascular endothelial cells relevant to PAH
PMID: 41159679
5
AQP1 is expressed in endothelial cells and vascular smooth muscle cells with roles in cardiovascular function and angiogenesis
PMID: 28258568
6
AQP1 is expressed in the central and peripheral nervous system mediating water flux between CNS compartments
PMID: 28258567
7
AQP1 expression in lung facilitates fluid transport and plays roles in respiratory physiology and pathophysiology
PMID: 28258569
Disease Associationsβ“˜20
osteoporosisOpen Targets
0.49Moderate
nephrolithiasisOpen Targets
0.46Moderate
bone diseaseOpen Targets
0.45Moderate
bone fractureOpen Targets
0.41Moderate
goutOpen Targets
0.41Moderate
bladder calculusOpen Targets
0.41Moderate
urolithiasisOpen Targets
0.37Weak
preeclampsiaOpen Targets
0.34Weak
hemolysisOpen Targets
0.33Weak
ocular hypotensionOpen Targets
0.31Weak
heritable pulmonary arterial hypertensionOpen Targets
0.19Weak
hypertensionOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
acute kidney injuryOpen Targets
0.10Weak
gastric cancerOpen Targets
0.10Suggestive
cervical cancerOpen Targets
0.09Suggestive
nail-patella syndromeOpen Targets
0.09Suggestive
Miyoshi myopathyOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
Pathogenic Variants3
NM_198098.4(AQP1):c.587C>G (p.Ser196Cys)Pathogenic
AQP1-related pulmonary hypertension
β˜…β˜†β˜†β˜†2025β†’ Residue 196
NM_198098.4(AQP1):c.583C>T (p.Arg195Trp)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 195
NM_198098.4(AQP1):c.113C>T (p.Pro38Leu)Pathogenic
Colton-null phenotype
β˜†β˜†β˜†β˜†1994β†’ Residue 38
View on ClinVar β†—
Related Genes
EPB42Protein interaction100%GYPAProtein interaction100%ANK1Protein interaction89%SLC4A1Protein interaction89%RHCEProtein interaction88%AQP12AProtein interaction87%
Tissue Expression6 tissues
Lung
100%
Heart
76%
Bone Marrow
29%
Brain
21%
Liver
6%
Ovary
4%
Gene Interaction Network
Click a node to explore
AQP1EPB42GYPAANK1SLC4A1RHCEAQP12A
PROTEIN STRUCTURE
Preparing viewer…
PDB7UZE Β· 2.40 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.92LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.55 [0.35–0.92]
RankingsWhere AQP1 stands among ~20K protein-coding genes
  • #802of 20,598
    Most Researched377 Β· top 5%
  • #3,906of 5,498
    Most Pathogenic Variants3
  • #8,362of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedAQP1
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
AQP1 differentially orchestrates endothelial cell senescence.
PMID: 39180980
Redox Biol Β· 2024
1.00
2
Water channels.
PMID: 7522911
Curr Opin Nephrol Hypertens Β· 1993
0.92
3
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
PMID: 29650961
Nat Commun Β· 2018
0.90
4
PMID: 34670044
N Engl J Med Β· 2021
0.80
5
Leptin Promotes Vasculogenic Mimicry in Breast Cancer Cells by Regulating Aquaporin-1.
PMID: 38791252
Int J Mol Sci Β· 2024
0.76