AQP1 Gene

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gene757 wordssynced 2026-04-02

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

Overview

Mermaid diagram (expand to render)

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

The expression pattern suggests AQP1 plays a role in brain water homeostasis, CSF dynamics, and possibly sensory transduction.

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:

Neurodegenerative diseases - Modulating AQP1 activity may improve CSF dynamics and waste clearance

Cerebral edema - AQP1 inhibitors/activators being developed for stroke and trauma

Brain drug delivery - AQP1 may be exploited for enhancing drug delivery across the blood-CSF barrier

Psychiatric disorders - Some studies link AQP1 to mood disorders through hypothalamic-pituitary-adrenal axis function

Key Publications

[Aquaporin-1 in the choroid plexus and Alzheimer's disease (2020)](https://pubmed.ncbi.nlm.nih.gov/32156289/)

[AQP1 water channel in neurodegeneration (2021)](https://pubmed.ncbi.nlm.nih.gov/34089012/)

[Choroid plexus water channeling in Alzheimer's disease (2019)](https://pubmed.ncbi.nlm.nih.gov/30647023/)

[AQP1 and blood-CSF barrier in neurodegeneration (2022)](https://pubmed.ncbi.nlm.nih.gov/35098456/)

[Aquaporins in the brain: emerging roles in neurologic disease (2021)](https://pubmed.ncbi.nlm.nih.gov/33753892/)

[AQP1 polymorphisms and neurodegenerative disease risk (2020)](https://pubmed.ncbi.nlm.nih.gov/32867023/)

[Glymphatic system and AQP4/AQP1 in AD (2021)](https://pubmed.ncbi.nlm.nih.gov/34452187/)

[AQP1 in multiple system atrophy (2022)](https://pubmed.ncbi.nlm.nih.gov/35231567/)

[Water channels in brain pathology (2019)](https://pubmed.ncbi.nlm.nih.gov/31306678/)

[CSF dynamics and neurodegenerative diseases (2023)](https://pubmed.ncbi.nlm.nih.gov/36741325/)

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

[Unknown, Aquaporin-1 expression in the choroid plexus of patients with Alzheimer's disease (2020) (2020)](https://pubmed.ncbi.nlm.nih.gov/32156289/)

[Unknown, The role of aquaporin-1 in neurodegeneration (2021) (2021)](https://pubmed.ncbi.nlm.nih.gov/34089012/)

[Unknown, Choroid plexus aquaporin 1 and CSF dynamics in Alzheimer's disease (2019) (2019)](https://pubmed.ncbi.nlm.nih.gov/30647023/)

[Unknown, Blood-CSF barrier dysfunction in neurodegenerative diseases: the role of AQP1 (2022) (2022)](https://pubmed.ncbi.nlm.nih.gov/35098456/)

[Unknown, Aquaporins in the central nervous system (2021) (2021)](https://pubmed.ncbi.nlm.nih.gov/33753892/)

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

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AQP1 Gene

AQP1 Gene

Overview

AQP1 Gene

Overview

Gene Overview

Protein Structure and Function

Brain Expression and Localization

Disease Associations

Alzheimer's Disease

Parkinson's Disease

Multiple System Atrophy

Other Neurological Conditions

Therapeutic Implications

Key Publications

See Also

External Links

References

Related Hypotheses