Free for academic non-profit institutions. Other users need a Commercial license
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]
AQP1 (Aquaporin 1 (Colton Blood Group)) is a Protein Coding gene. Diseases associated with AQP1 include Blood Group, Colton System and Obstructive Hydrocephalus. Among its related pathways are Aquaporin-mediated transport and O2/CO2 exchange in erythrocytes. Gene Ontology (GO) annotations related to this gene include transporter activity and potassium channel activity. An important paralog of this gene is ENSG00000250424.
Aquaporins (AQPs) are integral membrane proteins that facilitate the transport of water across biological membranes along an osmotic gradient. There have been 13 AQP isoforms (AQP0-AQP12) identified in humans and rodents to date.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005223 | intracellular cGMP-activated cation channel activity | IDA | 14561230 |
GO:0005267 | potassium channel activity | IMP | 11914159 |
GO:0005372 | water transmembrane transporter activity | IDA | 7521540 |
GO:0005515 | protein binding | IPI | 16189514 |
GO:0008519 | ammonium transmembrane transporter activity | IDA | 19273840 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005634 | nucleus | IDA | 17645239 |
GO:0005737 | cytoplasm | IDA | 16814974 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 1722319 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Aquaporin-mediated transport | ||
2 | O2/CO2 exchange in erythrocytes | ||
3 | Bile secretion | ||
4 | Proximal tubule bicarbonate reclamation | ||
5 | Renin secretion |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003091 | renal water homeostasis | TAS | -- |
GO:0003097 | renal water transport | IDA | 9096382 |
GO:0006813 | potassium ion transport | ISS | -- |
GO:0006833 | water transport | TAS | -- |
GO:0006884 | cell volume homeostasis | IMP | 11922632 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Acetazolamide | Approved, Vet_approved | Pharma | Target, inhibitor | 114 | ||
Cisplatin | Approved | Pharma | Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum | 3412 | ||
Water | Approved | Pharma | 0 | |||
tetraethylammonium | Experimental, Investigational | Pharma | Inhibitor, Pore Blocker, Antagonist, Inhibition | 1 | ||
B-nonylglucoside | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
TC AQP1 1 |
|
37710-81-9 |
|
|
||
TGN 020 |
|
51987-99-6 |
|
|
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AQP1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Dog (Canis familiaris) |
Mammalia | AQP1 30 31 |
|
OneToMany | |
Cow (Bos Taurus) |
Mammalia | AQP1 30 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Aqp1 30 17 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Aqp1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | AQP1 30 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | aqp1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | aqp1a.2 30 31 |
|
ManyToMany | |
aqp1a.1 31 |
|
ManyToMany | |||
wufj33g04 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008843 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG7777 30 32 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | AQY1 33 |
|
|
|
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | PIP2E 30 |
|
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
707973 | Benign: not provided | 30,912,089(+) | C/T | SYNONYMOUS_VARIANT | |
rs104894004 | Pathogenic: COLTON-NULL PHENOTYPE. - | 30,912,022(+) | C/Tp.Pro38Leu | MISSENSE_VARIANT | |
rs28362692 | Benign: COLTON BLOOD GROUP POLYMORPHISM. - | 30,912,043(+) | C/Tp.Ala45Val | MISSENSE_VARIANT | |
rs28362731 | - | p.Gly165Asp |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv11254n54 | CNV | loss | 21841781 |
dgv11255n54 | CNV | loss | 21841781 |
dgv11256n54 | CNV | loss | 21841781 |
dgv6316n100 | CNV | gain | 25217958 |
esv2761316 | CNV | gain | 21179565 |
nsv1068321 | OTHER | inversion | 25765185 |
nsv1148830 | OTHER | inversion | 26484159 |
nsv436557 | CNV | deletion | 17901297 |
nsv527038 | CNV | gain | 19592680 |
nsv606510 | CNV | loss | 21841781 |
nsv606513 | CNV | loss | 21841781 |
nsv606514 | CNV | loss | 21841781 |
nsv606520 | CNV | loss | 21841781 |
nsv606521 | CNV | loss | 21841781 |
nsv950821 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
blood group, colton system |
|
|
obstructive hydrocephalus |
|
|
diabetes insipidus, nephrogenic, autosomal |
|
|
central pontine myelinolysis |
|
|
neuromyelitis optica |
|
|