AQP1 Gene

AQP1 Gene

<div class="infobox infobox-gene">
<table>
<tr><th colspan="2" style="background:#f0f0f0;">AQP1</th></tr> [@choroid2019]
<tr><td><b>Full Name</b></td><td>Aquaporin 1</td></tr> [@bloodcsf2022]
<tr><td><b>Category</b></td><td>Gene</td></tr> [@aquaporins2021]
<tr><td><b>Path</b></td><td>/genes/aqp1</td></tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">ALS</a>, <a href="/wiki/aging" style="color:#ef9a9a">Aging</a>, <a href="/wiki/als" style="color:#ef9a9a">Als</a>, <a href="/wiki/alzheimer" style="color:#ef9a9a">Alzheimer</a>, <a href="/wiki/amyotrophic-lateral-sclerosis" style="color:#ef9a9a">Amyotrophic Lateral Sclerosis</a></td>
</tr>
<tr>
<td class="label">SciDEX Hypotheses</td>
<td><a href="/hypothesis/h-0dea0ed5" style="color:#ce93d8" title="Score: 0.42">Osmotic Gradient Restoration via Selecti...</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">131 edges</a></td>
</tr>
</table>
</div>

Overview

AQP1 Gene

<div class="infobox infobox-gene">
<table>
<tr><th colspan="2" style="background:#f0f0f0;">AQP1</th></tr> [@choroid2019]
<tr><td><b>Full Name</b></td><td>Aquaporin 1</td></tr> [@bloodcsf2022]
<tr><td><b>Category</b></td><td>Gene</td></tr> [@aquaporins2021]
<tr><td><b>Path</b></td><td>/genes/aqp1</td></tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">ALS</a>, <a href="/wiki/aging" style="color:#ef9a9a">Aging</a>, <a href="/wiki/als" style="color:#ef9a9a">Als</a>, <a href="/wiki/alzheimer" style="color:#ef9a9a">Alzheimer</a>, <a href="/wiki/amyotrophic-lateral-sclerosis" style="color:#ef9a9a">Amyotrophic Lateral Sclerosis</a></td>
</tr>
<tr>
<td class="label">SciDEX Hypotheses</td>
<td><a href="/hypothesis/h-0dea0ed5" style="color:#ce93d8" title="Score: 0.42">Osmotic Gradient Restoration via Selecti...</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">131 edges</a></td>
</tr>
</table>
</div>

Overview

AQP1 (Aquaporin 1) encodes a water channel protein that facilitates rapid water transport across cell membranes. While primarily known for its role in water homeostasis in peripheral tissues, AQP1 is also expressed in the central nervous system, particularly in the [choroid plexus](/cell-types/choroid-plexus), where it plays a critical role in [cerebrospinal fluid (CSF) production](/mechanisms/csf-production-circulation) and [blood-CSF barrier](/entities/blood-brain-barrier) function. Recent research has implicated AQP1 dysregulation in various neurodegenerative diseases, including [Alzheimer's disease](/diseases/alzheimers-disease), [Parkinson's disease](/diseases/parkinsons-disease), and [multiple system atrophy](/diseases/multiple-system-atrophy).

Gene Overview

| Attribute | Value |
|-----------|-------|
| Symbol | AQP1 |
| Full Name | Aquaporin 1 |
| Chromosome | 7p14.3 |
| NCBI Gene ID | [358](https://www.ncbi.nlm.nih.gov/gene/358) |
| OMIM ID | [107700](https://www.omim.org/entry/107700) |
| UniProt ID | [P29972](https://www.uniprot.org/uniprot/P29972) |
| Ensembl ID | [ENSG00000240583](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000240583) |

Protein Structure and Function

AQP1 is a ~28 kDa integral membrane protein that forms a tetrameric water channel. Each monomer contains six transmembrane alpha-helices with both N- and C-termini facing the extracellular space. The protein contains two conserved NPA (Asn-Pro-Ala) motifs that form the water-selective pore. The tetrameric assembly creates a functional water channel with a single-channel water permeability of approximately 3 × 10^9 water molecules per second per subunit.

In the brain, AQP1 is primarily expressed in the [choroid plexus](/cell-types/choroid-plexus) epithelial cells, where it co-localizes with other water channels and ion transporters involved in CSF secretion. AQP1-mediated water flow is driven by osmotic gradients created by active ion transport (primarily Na+/K+-ATPase and NKCC1).

Brain Expression and Localization

Within the central nervous system, AQP1 expression is concentrated in:

• Choroid plexus epithelium - Primary site of AQP1 expression in the brain, where it mediates CSF production
• Ventricular ependymal cells - Some ependymal cells lining the ventricles express AQP1
• Hypothalamic nuclei - Limited expression in certain hypothalamic regions involved in osmoregulation
• Sensory ganglia - Dorsal root ganglia and trigeminal ganglia show AQP1 expression

Disease Associations

Alzheimer's Disease

AQP1 expression is altered in [Alzheimer's disease](/diseases/alzheimers-disease). Studies have shown:

• Increased AQP1 expression in the choroid plexus of AD patients
• Altered CSF production dynamics contributing to impaired glymphatic clearance
• Potential involvement in [amyloid-beta](/proteins/amyloid-beta) clearance pathways
• Association with blood-CSF barrier dysfunction

Parkinson's Disease

In [Parkinson's disease](/diseases/parkinsons-disease), AQP1 may play a role in:

• Nigrostriatal region water homeostasis
• Potential modulation of [alpha-synuclein](/proteins/alpha-synuclein) aggregation through osmotic stress pathways
• CSF dynamics affecting protein clearance

Multiple System Atrophy

AQP1 dysregulation has been implicated in [multiple system atrophy](/diseases/multiple-system-atrophy):

• Oligodendroglial dysfunction related to water transport
• Possible contribution to MSA pathogenesis through impaired glial water clearance

Other Neurological Conditions

• Normal pressure hydrocephalus - AQP1 dysfunction may contribute to impaired CSF absorption
• Cerebral edema - AQP1 modulators being investigated for treatment
• Brain tumors - AQP1 expression in certain gliomas affects edema formation

Therapeutic Implications

AQP1 represents a potential therapeutic target for:

Key Publications

See Also

• [Genes Index](/genes)
• [Aquaporins](/proteins/aquaporins)
• [Choroid Plexus](/cell-types/choroid-plexus)
• [Blood-Brain Barrier](/entities/blood-brain-barrier)
• [CSF Production and Circulation](/mechanisms/csf-production-circulation)
• [Alzheimer's Disease](/diseases/alzheimers-disease)
• [Parkinson's Disease](/diseases/parkinsons-disease)
• [Multiple System Atrophy](/diseases/multiple-system-atrophy)

External Links

• [NCBI Gene - AQP1](https://www.ncbi.nlm.nih.gov/gene/358)
• [UniProt - AQP1](https://www.uniprot.org/uniprot/P29972)
• [Ensembl - AQP1](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000240583)
• [OMIM - AQP1](https://www.omim.org/entry/107700)

References

Related Hypotheses

From the [SciDEX Exchange](/exchange) — scored by multi-agent debate

• [Osmotic Gradient Restoration via Selective AQP1 Enhancement in Choroid Plexus](/hypothesis/h-0dea0ed5) — <span style="color:#ffd54f;font-weight:600">0.42</span> · Target: AQP1