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Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13. [provided by RefSeq, Jul 2008]
AQP5 (Aquaporin 5) is a Protein Coding gene. Diseases associated with AQP5 include Palmoplantar Keratoderma, Bothnian Type and Diffuse Palmoplantar Keratoderma, Bothnian Type. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Aquaporin-mediated transport. Gene Ontology (GO) annotations related to this gene include transporter activity and glycerol channel activity. An important paralog of this gene is AQP2.
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:0005515 | protein binding | IPI | 16189514 |
GO:0015250 | water channel activity | IDA | 12801959 |
GO:0015267 | channel activity | IEA | -- |
GO:0042802 | identical protein binding | IPI | 18768791 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005886 | plasma membrane | IBA,TAS | -- |
GO:0005887 | integral component of plasma membrane | IDA | 26569106 |
GO:0005902 | microvillus | IEA | -- |
GO:0009925 | basal plasma membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Aquaporin-mediated transport | ||
2 | Salivary secretion | ||
3 | Nanog in Mammalian ESC Pluripotency |
eNOS Signaling
.48
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4 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
5 | Stabilization and expansion of the E-cadherin adherens junction |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006833 | water transport | IEA,TAS | -- |
GO:0015670 | carbon dioxide transport | IDA,IBA | 19273840 |
GO:0030157 | pancreatic juice secretion | IEP | 12801959 |
GO:0042476 | odontogenesis | IEP | 12522663 |
GO:0046541 | saliva secretion | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Hg<sup>2+</sup> | Pharma | Inhibitor | 0 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | AQP5 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | AQP5 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | AQP5 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Aqp5 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Aqp5 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | AQP5 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | AQP5 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany | |||
-- 33 |
|
OneToMany | |||
tropical clawed frog (Silurana tropicalis) |
Amphibia | aqp5 32 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | CG7777 34 |
|
|
|
soybean (Glycine max) |
eudicotyledons | Gma.12965 32 |
|
||
wheat (Triticum aestivum) |
Liliopsida | Ta.5652 32 |
|
||
corn (Zea mays) |
Liliopsida | Zm.14436 32 |
|
SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs368292687 | pathogenic, Diffuse palmoplantar keratoderma, Bothnian type, Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231] | 49,964,125(+) | C/T | coding_sequence_variant, missense_variant | |
rs398123054 | pathogenic, Diffuse palmoplantar keratoderma, Bothnian type, Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231] | 49,962,130(+) | C/A/T | coding_sequence_variant, missense_variant | |
rs398123055 | pathogenic, Diffuse palmoplantar keratoderma, Bothnian type, Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231] | 49,962,151(+) | T/G | coding_sequence_variant, missense_variant | |
rs398123056 | pathogenic, Diffuse palmoplantar keratoderma, Bothnian type, Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231] | 49,964,092(+) | A/G/T | coding_sequence_variant, missense_variant | |
rs398123057 | pathogenic, Diffuse palmoplantar keratoderma, Bothnian type, Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231] | 49,963,495(+) | A/G | coding_sequence_variant, missense_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
palmoplantar keratoderma, bothnian type |
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|
diffuse palmoplantar keratoderma, bothnian type |
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diffuse palmoplantar keratoderma |
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|
pulmonary edema |
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dry eye syndrome |
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