AQP1 Gene

HGNC Family	Blood group antigens, Ion channels
Name	aquaporin 1 (Colton blood group)
Description	This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradient. This gene is a possible candidate for disorders involving imbalance in ocular fluid movement. [provided by RefSeq, Aug 2016]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Aquaporin‐1 (AQP1) is a widely expressed water channel protein that facilitates rapid transmembrane water movement and plays multifaceted roles in normal physiology and disease. In vascular endothelial cells, AQP1 enhances water permeability and markedly promotes cell migration—a critical component of angiogenesis, tissue repair, and tumor spread—as evidenced by impaired tumor vascularization and growth in AQP1‐null mice."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Molecular dynamics investigations further elucidate how specific water–channel interactions within the AQP1 pore confer high selectivity for water over other small molecules (such as gases and solutes), thereby safeguarding cellular homeostasis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In the central nervous system, AQP1 is prominently localized in microvessel endothelia and the choroid plexus, where it contributes to cerebrospinal fluid regulation and may participate in edema formation under pathological conditions such as brain tumors and hemorrhage, even though its expression appears unaltered in some acute ischemic contexts."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "6"}]}, {"type": "t", "text": " In red blood cells, AQP1 is a major conduit for water and gas exchange; its deficiency leads to a significant reduction in CO₂ permeability, underscoring its pivotal role in facilitating efficient respiratory gas transfer."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "7", "end_ref": "9"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Beyond these roles, AQP1 is functionally important in specialized water transport. In the kidney, hypertonicity stimulates AQP1 expression via MAPK pathways, thereby contributing to medullary osmoregulation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": " Similarly, in the peritoneum the presence of AQP1 in capillary endothelial cells is critical for efficient sodium sieving and ultrafiltration during peritoneal dialysis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": " In diagnostic pathology, the distinctive expression pattern of AQP1 in clear cell and papillary renal cell carcinomas renders it a valuable immunohistochemical marker to aid tumor classification."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "12"}]}, {"type": "t", "text": " Moreover, in the corneal endothelium, AQP1 mediates rapid water transport that is essential for maintaining corneal clarity by facilitating efficient fluid extrusion following osmotic challenge."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "13"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these studies demonstrate that AQP1 is not only a key mediator of water flux in various tissues but also a contributor to cell migration, gas exchange, and specialized fluid handling processes. Its diverse functional roles underscore its importance as a molecular determinant in physiological water homeostasis as well as in the pathogenesis of edema, tumor progression, and other clinical conditions.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Samira Saadoun, Marios C Papadopoulos, Mariko Hara-Chikuma, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Impairment of angiogenesis and cell migration by targeted aquaporin-1 gene disruption."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nature03460"}], "href": "https://doi.org/10.1038/nature03460"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15815633"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15815633"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Eric McCoy, Harald Sontheimer "}, {"type": "b", "children": [{"type": "t", "text": "Expression and function of water channels (aquaporins) in migrating malignant astrocytes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Glia (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/glia.20524"}], "href": "https://doi.org/10.1002/glia.20524"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17549682"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17549682"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Jochen S Hub, Bert L de Groot "}, {"type": "b", "children": [{"type": "t", "text": "Mechanism of selectivity in aquaporins and aquaglyceroporins."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0707662104"}], "href": "https://doi.org/10.1073/pnas.0707662104"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18202181"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18202181"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "S Saadoun, M C Papadopoulos, D C Davies, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Increased aquaporin 1 water channel expression in human brain tumours."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Br J Cancer (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.bjc.6600512"}], "href": "https://doi.org/10.1038/sj.bjc.6600512"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12237771"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12237771"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Jeppe Praetorius, Søren Nielsen "}, {"type": "b", "children": [{"type": "t", "text": "Distribution of sodium transporters and aquaporin-1 in the human choroid plexus."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Physiol Cell Physiol (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/ajpcell.00433.2005"}], "href": "https://doi.org/10.1152/ajpcell.00433.2005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16481371"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16481371"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Parham Moftakhar, Matthew D Lynch, Justine L Pomakian, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Aquaporin expression in the brains of patients with or without cerebral amyloid angiopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neuropathol Exp Neurol (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/NEN.0b013e3181fd252c"}], "href": "https://doi.org/10.1097/NEN.0b013e3181fd252c"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21107133"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21107133"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Raif Musa-Aziz, Li-Ming Chen, Marc F Pelletier, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Relative CO2/NH3 selectivities of AQP1, AQP4, AQP5, AmtB, and RhAG."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0813231106"}], "href": "https://doi.org/10.1073/pnas.0813231106"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19273840"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19273840"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "V Endeward, R Musa-Aziz, G J Cooper, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Evidence that aquaporin 1 is a major pathway for CO2 transport across the human erythrocyte membrane."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FASEB J (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1096/fj.04-3300com"}], "href": "https://doi.org/10.1096/fj.04-3300com"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17012249"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17012249"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Baoxue Yang, A S Verkman "}, {"type": "b", "children": [{"type": "t", "text": "Analysis of double knockout mice lacking aquaporin-1 and urea transporter UT-B. Evidence for UT-B-facilitated water transport in erythrocytes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M206948200"}], "href": "https://doi.org/10.1074/jbc.M206948200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12133842"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12133842"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Fuminori Umenishi, Robert W Schrier "}, {"type": "b", "children": [{"type": "t", "text": "Hypertonicity-induced aquaporin-1 (AQP1) expression is mediated by the activation of MAPK pathways and hypertonicity-responsive element in the AQP1 gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M209980200"}], "href": "https://doi.org/10.1074/jbc.M209980200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12600999"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12600999"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "J Ni, J-M Verbavatz, A Rippe, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Aquaporin-1 plays an essential role in water permeability and ultrafiltration during peritoneal dialysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Kidney Int (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.ki.5000285"}], "href": "https://doi.org/10.1038/sj.ki.5000285"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16508653"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16508653"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Peter R Mazal, Martin Stichenwirth, Anke Koller, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression of aquaporins and PAX-2 compared to CD10 and cytokeratin 7 in renal neoplasms: a tissue microarray study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mod Pathol (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/modpathol.3800320"}], "href": "https://doi.org/10.1038/modpathol.3800320"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15502805"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15502805"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Jay R Thiagarajah, A S Verkman "}, {"type": "b", "children": [{"type": "t", "text": "Aquaporin deletion in mice reduces corneal water permeability and delays restoration of transparency after swelling."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M202071200"}], "href": "https://doi.org/10.1074/jbc.M202071200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11891232"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11891232"}]}]}]}
Synonyms	CHIP28, AQP-CHIP, CO
Proteins	AQP1_HUMAN
NCBI Gene ID	358
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

AQP1 has 11,338 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 113 datasets.

Click the + buttons to view associations for AQP1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

AQP1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of AQP1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of AQP1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of AQP1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of AQP1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of AQP1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of AQP1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of AQP1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of AQP1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of AQP1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of AQP1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of AQP1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with AQP1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of AQP1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of AQP1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of AQP1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of AQP1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of AQP1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing AQP1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with AQP1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of AQP1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with AQP1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with AQP1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with AQP1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by AQP1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DGIdb Drug Targets 2026	interacting drugs for AQP1 protein from the DGIdb Drug Targets 2026 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with AQP1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with AQP1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with AQP1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with AQP1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with AQP1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with AQP1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for AQP1 protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at AQP1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of AQP1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of AQP1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing AQP1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with AQP1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with AQP1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of AQP1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with AQP1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.