AQP1

Chr 7p14.3

aquaporin 1 (Colton blood group)

Aliases:: CHIP28
MANE:: ENST00000311813.11

OMIM: 107776 ↗NCBI: 358 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

AQP1 · P29972

v62025-08-01

Predicted Aligned Error matrix for AQP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.8/ 100

Very high

269 residues

Confidence breakdown

Very high(≥ 90)82%
Confident(70–90)8%
Low(50–70)3%
Very low(< 50)7%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Pulmonary arterial hypertension
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial Meniere Disease
Primary lymphoedema
Unknown
Hereditary isolated diabetes insipidus
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

osteoporosis
0.43
nephrolithiasis
0.41
bone disorder
0.40
bone fracture
0.36
gout
0.36
bladder calculus
0.36
preeclampsia
0.33
urolithiasis
0.32
hemolysis
0.29
ocular hypotension
0.28

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Aquaporin-1

Forms a water channel that facilitates the transport of water across cell membranes, playing a crucial role in water homeostasis in various tissues (PubMed:1373524, PubMed:23219802). Could also be permeable to small solutes including hydrogen peroxide, glycerol and gases such as amonnia (NH3), nitric oxide (NO) and carbon dioxide (CO2) (PubMed:16682607, PubMed:17012249, PubMed:19273840, PubMed:33028705, PubMed:8584435). Recruited to the ankyrin-1 complex, a multiprotein complex of the erythrocyte membrane, it could be part of a CO2 metabolon, linking facilitated diffusion of CO2 across the membrane, anion exchange of Cl(-)/HCO3(-) and interconversion of dissolved CO2 and carbonic acid in the cytosol (PubMed:17012249, PubMed:35835865). In vitro, it shows non-selective gated cation channel activity and may be permeable to cations like K(+) and Na(+) in vivo (PubMed:36949749, PubMed:8703053)