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Gene Review

AQP1  -  aquaporin 1 (Colton blood group)

Homo sapiens

Synonyms: AQP-1, AQP-CHIP, Aquaporin-1, Aquaporin-CHIP, CHIP28, ...
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Disease relevance of AQP1


Psychiatry related information on AQP1

  • Significant increased expression levels of AQP1 (as revealed with two different antibodies) and AQP4 were seen in CJD, but not in advanced AD and DLB cases when compared with controls [5].
  • Are aquaporin water channels the "holy grail" of primary nocturnal enuresis [6]?
  • Here a study is made of how these factors could influence the response of aquaporin to drought. * Methods Three plasma membrane intrinsic proteins (PIPs) or aquaporins were cloned from Phaseolus vulgaris plants and their expression was analysed after 4 d of water deprivation and also 1 d after re-watering [7].

High impact information on AQP1


Chemical compound and disease context of AQP1


Biological context of AQP1

  • Based on these findings, it was possible to convert AQP1 into a cotranslational biogenesis mode similar to that of AQP4 by substituting just two peptide regions at the N terminus of TM2 and the C terminus of TM3 [14].
  • Consistent with experimental data, multi-nanosecond molecular dynamics simulations showed one stable binding site for TEA, but not tetramethyl (TMA), in AQP1, resulting in a nearly 50% water permeability inhibition, which was reduced in AQP1-Y186F due to effects on the TEA inhibitory binding region [15].
  • Using oocytes, externally applied TEA blocked AQP1/AQP2/AQP4 with IC50 values of 1.4, 6.2, and 9.8 microM, respectively [15].
  • Humans are identified with mutations in AQP1 and AQP2 and exhibit contrasting clinical phenotypes [16].
  • AQP1 may play a role in water movement from the amniotic cavity across the placenta into the fetal circulation [17].

Anatomical context of AQP1


Associations of AQP1 with chemical compounds

  • Aquaporin-1 (AQP1) is extremely abundant in the proximal tubule and descending thin limb, where it appears to provide the chief route for proximal nephron water reabsorption [19].
  • Arrhenius activation energies of water transfer were low when AQP1 or P25 were present in oocyte plasma membranes (Ea = 2.29 and 3.01 kcal/mol, respectively, versus Ea = 11.75 kcal/mol for liposome injected oocytes) [20].
  • Furthermore, apical, but not basolateral, application of Hg(2+) significantly reduces the transepithelial osmotic permeability, suggesting that apical AQP1 and AQP5 may contribute significantly to fluid secretion [21].
  • In a recent work, we showed that the aquaporins 1 (AQP1) are permeable to certain small solutes such as glycerol [22].
  • On the other hand, AQP1 mRNA expression did not correlate with D/P4 (r=0.21, p=0.2), MTAC of Cr (r=0.05, p=0.7), or with net UF (r=0.17, p=0.3) [23].

Physical interactions of AQP1

  • We speculate that CFTR may interact with aquaporin to bring about cytoplasmic volume contraction which is an essential feature of spermiogenesis [24].
  • The regulation of AQP1 ion channels could be one of several transport mechanisms that contribute to the decreased CSF secretion in response to endogenous signaling molecules such as atrial natriuretic peptide [25].
  • Jk(a-b-) cells have neither Kidd protein nor HUT11 urea transporter and they are characterized by a selective defect of urea transport whereas water transport and aquaporin-1 associated Colton antigens are normally expressed [26].

Co-localisations of AQP1

  • We found that CAV-1 is present in thymocytes and that this protein co-localizes with a portion of AQP1 in normal (non-apoptotic) thymocytes [27].
  • TRPC1 colocalized with aquaporin-1, a marker for proximal tubule and thin descending limb, but not with aquaporin-2, a marker for connecting tubule and collecting duct cells [28].

Regulatory relationships of AQP1

  • AQP1 was localized to the same cell population expressing glial fibrillary acidic protein (GFAP), but not to the neurons in the plexuses, indicating glial cell-specific expression [18].
  • Image analysis of normal, OA and RA cartilage suggested that AQP1 may be upregulated in RA [29].
  • The perivascular staining around the superficial vessels altered from AQP4 in control retinas to AQP1 in postischemic retinas [30].
  • Vasopressin or AVP regulates water reabsorption by the kidney inner medullary collecting duct (IMCD) through the insertion and removal of aquaporin (AQP) 2 water channels into the IMCD apical membrane [31].
  • To our knowledge, this is the first demonstration that IFN-alpha regulates the gene expression of an aquaporin [32].

Other interactions of AQP1

  • Two aquaporins have been identified so far in the CNS, AQP1 and AQP4 [33].
  • To compare the selectivity of AQP-1 and CK7 as possible markers for differentiated cholangiocytes, liver biopsies of cholestatic disease were also analyzed [34].
  • Western blot analysis of AQP1 and AQP5 expression in the glands revealed that protein abundance decreased in a similar fashion [35].
  • The distribution of the AQP1 and AQP3 proteins was also studied by immunohistochemical staining using affinity-purified polyclonal antibodies [36].
  • The vessels in the dermis showed a high incidence of AQP1 and eNOS [37].

Analytical, diagnostic and therapeutic context of AQP1


  1. Aquaporin 1 and aquaporin 4 expression in human brain after subarachnoid hemorrhage and in peritumoral tissue. Badaut, J., Brunet, J.F., Grollimund, L., Hamou, M.F., Magistretti, P.J., Villemure, J.G., Regli, L. Acta Neurochir. Suppl. (2003) [Pubmed]
  2. In vitro studies of aquaporins 1 and 3 expression in cultured human proximal tubular cells: upregulation by transferrin but not albumin. Tang, S., Leung, J.C., Lam, C.W., Lai, F.M., Chan, T.M., Lai, K.N. Am. J. Kidney Dis. (2001) [Pubmed]
  3. Cardiac aquaporin expression in humans, rats, and mice. Butler, T.L., Au, C.G., Yang, B., Egan, J.R., Tan, Y.M., Hardeman, E.C., North, K.N., Verkman, A.S., Winlaw, D.S. Am. J. Physiol. Heart Circ. Physiol. (2006) [Pubmed]
  4. Expression of aquaporins and PAX-2 compared to CD10 and cytokeratin 7 in renal neoplasms: a tissue microarray study. Mazal, P.R., Stichenwirth, M., Koller, A., Blach, S., Haitel, A., Susani, M. Mod. Pathol. (2005) [Pubmed]
  5. Increased expression of water channel aquaporin 1 and aquaporin 4 in Creutzfeldt-Jakob disease and in bovine spongiform encephalopathy-infected bovine-PrP transgenic mice. Rodr??guez, A., P??rez-Gracia, E., Espinosa, J.C., Pumarola, M., Torres, J.M., Ferrer, I. Acta Neuropathol. (2006) [Pubmed]
  6. Are aquaporin water channels the "holy grail" of primary nocturnal enuresis? Davis, I.D., MacRae Dell, K. J. Urol. (2002) [Pubmed]
  7. Drought, Abscisic Acid and Transpiration Rate Effects on the Regulation of PIP Aquaporin Gene Expression and Abundance in Phaseolus vulgaris Plants. Aroca, R., Ferrante, A., Vernieri, P., Chrispeels, M.J. Ann. Bot. (2006) [Pubmed]
  8. Cellular and molecular biology of the aquaporin water channels. Borgnia, M., Nielsen, S., Engel, A., Agre, P. Annu. Rev. Biochem. (1999) [Pubmed]
  9. Lung epithelial fluid transport and the resolution of pulmonary edema. Matthay, M.A., Folkesson, H.G., Clerici, C. Physiol. Rev. (2002) [Pubmed]
  10. A case of a novel mutant vasopressin receptor-dependent nephrogenic diabetes insipidus with bilateral non-obstructive hydronephrosis in a middle aged man: differentiation from aquaporin-dependent nephrogenic diabetes insipidus by response of factor VII and von Willebrand factor to 1-diamino-8-arginine vasopressin administration. Miyakoshi, M., Kamoi, K., Uchida, S., Sasaki, S. Endocr. J. (2003) [Pubmed]
  11. Induction of aquaporin 1 by dexamethasone in lipid rafts in immortalized brain microvascular endothelial cells. Kobayashi, H., Yokoo, H., Yanagita, T., Satoh, S., Kis, B., Deli, M., Niwa, M., Wada, A. Brain Res. (2006) [Pubmed]
  12. Induction of human aquaporin-1 gene by retinoic acid in human erythroleukemia HEL cells. Umenishi, F., Schrier, R.W. Biochem. Biophys. Res. Commun. (2002) [Pubmed]
  13. Brain edema in acute liver failure. Butterworth, R.F. Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology. (2003) [Pubmed]
  14. Identification of sequence determinants that direct different intracellular folding pathways for aquaporin-1 and aquaporin-4. Foster, W., Helm, A., Turnbull, I., Gulati, H., Yang, B., Verkman, A.S., Skach, W.R. J. Biol. Chem. (2000) [Pubmed]
  15. Quaternary ammonium compounds as water channel blockers. Specificity, potency, and site of action. Detmers, F.J., de Groot, B.L., Müller, E.M., Hinton, A., Konings, I.B., Sze, M., Flitsch, S.L., Grubmüller, H., Deen, P.M. J. Biol. Chem. (2006) [Pubmed]
  16. The aquaporin family of water channels in kidney. Nielsen, S., Agre, P. Kidney Int. (1995) [Pubmed]
  17. Expression and localization of aquaporin 1 and 3 in human fetal membranes. Mann, S.E., Ricke, E.A., Yang, B.A., Verkman, A.S., Taylor, R.N. Am. J. Obstet. Gynecol. (2002) [Pubmed]
  18. Localization of aquaporin-1 water channel in glial cells of the human peripheral nervous system. Gao, H., He, C., Fang, X., Hou, X., Feng, X., Yang, H., Zhao, X., Ma, T. Glia (2006) [Pubmed]
  19. Physiology and pathophysiology of renal aquaporins. Nielsen, S., Kwon, T.H., Christensen, B.M., Promeneur, D., Frøkiaer, J., Marples, D. J. Am. Soc. Nephrol. (1999) [Pubmed]
  20. Incorporation of proteins into (Xenopus) oocytes by proteoliposome microinjection: functional characterization of a novel aquaporin. Le Cahérec, F., Bron, P., Verbavatz, J.M., Garret, A., Morel, G., Cavalier, A., Bonnec, G., Thomas, D., Gouranton, J., Hubert, J.F. J. Cell. Sci. (1996) [Pubmed]
  21. The role of aquaporin water channels in fluid secretion by the exocrine pancreas. Burghardt, B., Nielsen, S., Steward, M.C. J. Membr. Biol. (2006) [Pubmed]
  22. Glycerol permeability of mutant aquaporin 1 and other AQP-MIP proteins: inhibition studies. Abrami, L., Berthonaud, V., Deen, P.M., Rousselet, G., Tacnet, F., Ripoche, P. Pflugers Arch. (1996) [Pubmed]
  23. The relationship between peritoneal transport characteristics and messenger RNA expression of aquaporin in the peritoneal dialysis effluent of CAPD patients. Szeto, C.C., Lai, K.B., Chow, K.M., Szeto, C.Y., Li, P.K. J. Nephrol. (2005) [Pubmed]
  24. Expression of the cystic fibrosis transmembrane conductance regulator in rat spermatids: implication for the site of action of antispermatogenic agents. Gong, X.D., Li, J.C., Cheung, K.H., Leung, G.P., Chew, S.B., Wong, P.Y. Mol. Hum. Reprod. (2001) [Pubmed]
  25. Physiological roles of aquaporins in the choroid plexus. Boassa, D., Yool, A.J. Curr. Top. Dev. Biol. (2005) [Pubmed]
  26. Urea transport and Kidd blood groups. Cartron, J.P., Ripoche, P. Transfusion clinique et biologique : journal de la Société française de transfusion sanguine. (1995) [Pubmed]
  27. The potential role of caveolin-1 in inhibition of aquaporins during the AVD. Jablonski, E.M., Hughes, F.M. Biol. Cell (2006) [Pubmed]
  28. Identification and localization of TRPC channels in the rat kidney. Goel, M., Sinkins, W.G., Zuo, C.D., Estacion, M., Schilling, W.P. Am. J. Physiol. Renal Physiol. (2006) [Pubmed]
  29. Human articular chondrocytes, synoviocytes and synovial microvessels express aquaporin water channels; upregulation of AQP1 in rheumatoid arthritis. Trujillo, E., González, T., Marín, R., Martín-Vasallo, P., Marples, D., Mobasheri, A. Histol. Histopathol. (2004) [Pubmed]
  30. Ischemia-reperfusion alters the immunolocalization of glial aquaporins in rat retina. Iandiev, I., Pannicke, T., Biedermann, B., Wiedemann, P., Reichenbach, A., Bringmann, A. Neurosci. Lett. (2006) [Pubmed]
  31. Modulation of vasopressin-elicited water transport by trafficking of aquaporin2-containing vesicles. Ward, D.T., Hammond, T.G., Harris, H.W. Annu. Rev. Physiol. (1999) [Pubmed]
  32. Interferon-alpha upregulates gene expression of aquaporin-5 in human parotid glands. Smith, J.K., Siddiqui, A.A., Modica, L.A., Dykes, R., Simmons, C., Schmidt, J., Krishnaswamy, G.A., Berk, S.L. J. Interferon Cytokine Res. (1999) [Pubmed]
  33. Aquaporins in the central nervous system. Venero, J.L., Vizuete, M.L., Machado, A., Cano, J. Prog. Neurobiol. (2001) [Pubmed]
  34. Diagnostic significance of aquaporin-1 in liver tumors. Mazal, P.R., Susani, M., Wrba, F., Haitel, A. Hum. Pathol. (2005) [Pubmed]
  35. Downregulation of aquaporins 1 and 5 in nasal gland by osmotic stress in ducklings, Anas platyrhynchos: implications for the production of hypertonic fluid. M??ller, C., Sendler, M., Hildebrandt, J.P. J. Exp. Biol. (2006) [Pubmed]
  36. Immunohistochemical localization of aquaporin 10 in the apical membranes of the human ileum: a potential pathway for luminal water and small solute absorption. Mobasheri, A., Shakibaei, M., Marples, D. Histochem. Cell Biol. (2004) [Pubmed]
  37. AQP1 and AQP3, psoriasin, and nitric oxide synthases 1-3 are inflammatory mediators in erythema toxicum neonatorum. Marchini, G., Ståbi, B., Kankes, K., Lonne-Rahm, S., Østergaard, M., Nielsen, S. Pediatric dermatology. (2003) [Pubmed]
  38. Aquaporin expression in the cerebral cortex is increased at early stages of Alzheimer disease. P??rez, E., Barrachina, M., Rodr??guez, A., Torrej??n-Escribano, B., Boada, M., Hern??ndez, I., S??nchez, M., Ferrer, I. Brain Res. (2007) [Pubmed]
  39. Aquaporin expression in developing human teeth and selected orofacial tissues. Wang, W., Hart, P.S., Piesco, N.P., Lu, X., Gorry, M.C., Hart, T.C. Calcif. Tissue Int. (2003) [Pubmed]
  40. Freeze-fracture analysis of plasma membranes of CHO cells stably expressing aquaporins 1-5. van Hoek, A.N., Yang, B., Kirmiz, S., Brown, D. J. Membr. Biol. (1998) [Pubmed]
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