AQP1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | AQP1 |
| Official Name | aquaporin 1 (Colton blood group) [Source:HGNC Symbol;Acc:HGNC:633] |
| Ensembl ID | ENSG00000240583 |
| Bio databases IDs | |
| Aliases | aquaporin 1 (Colton blood group) |
| Synonyms | Aq1, AQP-CHIP, aquaporin 1, aquaporin 1 (Colton blood group), Aquaporin-CHIP, Channel integral membrane protein 28, CHIP28, CO |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human AQP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- potassium channel
- potassium ion transporter
- intracellular cGMP activated cation channel
- channel/pore class transporter
- MIP
- inorganic uptake permease
- ephrin receptor binding
- protein binding
- identical protein binding
- ammonium transporter
- water channel
- water transporter
- nitric oxide transporter
- transmembrane domain
- glycerol transporter
- transporter
Pathways
Biological processes and signaling networks where the AQP1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- kidney disease
- Alzheimer disease
- pulmonary hypertensive arterial disease
- non-small cell lung cancer
- squamous-cell carcinoma
- squamous cell cancer
- osteoporosis
- adult T-cell leukemia/lymphoma
- mature T-cell neoplasia
- T-cell non-Hodgkin disease
role in cell
- cell viability
- proliferation
- apoptosis
- expression in
- migration
- growth
- invasion by
- number
- morphology
- homeostasis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- Cytoplasm
- apical compartment
- cellular membrane
- inner membrane
- Nucleus
- secretory granule membrane
- granules
- apical cell surfaces
- basolateral cell surfaces
- apical membrane
- caveolae
- basolateral membrane
- basal membrane
- nuclear envelope
- sarcolemma
- cytoplasmic vesicles
- secretory vesicles
- brush border
- microvilli
- perikaryon
- axons
- axon terminals
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AQP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- renal water homeostasis
- cellular water homeostasis
- glycerol transport
- carbon dioxide transport
- glomerular filtration
- renal water transport
- cell volume homeostasis
- positive regulation of angiogenesis
- metanephric descending thin limb development
- wound healing
- water transport
- lipid digestion
- negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
- cellular response to nitric oxide
- establishment of localization in cell
- cellular response to hypoxia
- potassium ion transmembrane transport
- nitric oxide transport
- hyperosmotic response
- lateral ventricle development
- cellular response to mercury ion
- cellular response to cAMP
- sensory perception of pain
- cerebrospinal fluid secretion
- corticotropin secretion
- cGMP-mediated signaling
- secretory granule organization
- odontogenesis
- cellular response to copper ion
- positive regulation of saliva secretion
- potassium ion transport
- cellular response to salt stress
- ammonium transmembrane transport
- multicellular organismal water homeostasis
- positive regulation of fibroblast proliferation
- cellular hyperosmotic response
- cellular response to UV
- cellular response to hydrogen peroxide
- carbon dioxide transmembrane transport
- cellular homeostasis
- transepithelial water transport
- defense response to Gram-negative bacterium
- metanephric proximal straight tubule development
- renal water absorption
- camera-type eye morphogenesis
- cellular response to mechanical stimulus
- cellular response to retinoic acid
- negative regulation of apoptotic process
- metanephric proximal convoluted tubule segment 2 development
- metanephric glomerulus vasculature development
- fibroblast migration
- cellular response to dexamethasone stimulus
- establishment or maintenance of actin cytoskeleton polarity
- pancreatic juice secretion
- positive regulation of fibroblast migration
Cellular Component
Where in the cell the gene product is active
- plasma membrane
- nucleus
- nuclear membrane
- basal plasma membrane
- brush border membrane
- extracellular vesicular exosome
- apical part of cell
- brush border
- cytoplasm
- sarcolemma
- basolateral plasma membrane
- apical plasma membrane
- axon
Molecular Function
What the gene product does at the molecular level
- glycerol transmembrane transporter activity
- identical protein binding
- potassium ion transmembrane transporter activity
- transmembrane transporter activity
- water transmembrane transporter activity
- nitric oxide transmembrane transporter activity
- water channel activity
- ephrin receptor binding
- potassium channel activity
- intracellular cGMP activated cation channel activity
- ammonium transmembrane transporter activity
- protein binding
- carbon dioxide transmembrane transporter activity