AQP3 - aquaporin 3 (Gill blood group) Gene
Also Known as GIL; AQP-3
Species: Homo sapiens
About AQP3
This gene has 7 transcripts (splice variants), 265 orthologues, 11 paralogues and is associated with 1 phenotype. Biased expression in esophagus (RPKM 430.5), skin (RPKM 178.1) and 9 other tissues.
Summary
This gene encodes the water channel protein Aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as Aquaporin 0. Aquaporin 3 is localized at the basal lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, Aquaporin 3 has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute permeation mechanisms. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
AQP3 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001318144.2 | NP_001305073.1 | aquaporin-3 isoform 2 |
| NM_004925.5 | NP_004916.1 | aquaporin-3 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables glycerol channel activity |
IDA
IDA: Inferred from direct assay
|
17943189 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
| enables water channel activity |
EXP
EXP: Inferred from Experiment
|
9369468 | GOA |
| enables water channel activity |
IDA
IDA: Inferred from direct assay
|
30420639 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within cellular response to hypoxia |
IDA
IDA: Inferred from direct assay
|
24462679 | GOA |
| involved in glycerol transmembrane transport |
IDA
IDA: Inferred from direct assay
|
30420639 | GOA |
| involved in odontogenesis |
IEP
IEP: Inferred from expression pattern
|
12522663 | GOA |
| involved in positive regulation of immune system process |
IDA
IDA: Inferred from direct assay
|
17943189 | GOA |
| involved in response to retinoic acid |
IDA
IDA: Inferred from direct assay
|
17943189 | GOA |
| involved in water transport |
IDA
IDA: Inferred from direct assay
|
30420639 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cell-cell junction |
IDA
IDA: Inferred from direct assay
|
18718702 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
18718702 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
14521551 | GOA |
AQP3 Protein Structure
MIP: Major intrinsic protein (20 - 261)
- 0
- 100
- 200
- 292 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
aquaporin-3 |
|
AQP3 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
AQP3 | Q92482 | VASN | Homo sapiens | Q6EMK4 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | VASN | Homo sapiens | Q6EMK4 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | SGPL1 | Homo sapiens | O95470 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | SGPL1 | Homo sapiens | O95470 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | HIBADH | Homo sapiens | P31937 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | HIBADH | Homo sapiens | P31937 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | GPX8 | Homo sapiens | Q8TED1 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | GPX8 | Homo sapiens | Q8TED1 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | MFF | Homo sapiens | Q9GZY8-5 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | MFF | Homo sapiens | Q9GZY8-5 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | MFF | Homo sapiens | Q9GZY8-5 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | GPR152 | Homo sapiens | Q8TDT2 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | GPR152 | Homo sapiens | Q8TDT2 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | MUC1 | Homo sapiens | P15941-11 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | MUC1 | Homo sapiens | P15941-11 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | SSMEM1 | Homo sapiens | Q8WWF3 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | SSMEM1 | Homo sapiens | Q8WWF3 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | LEUTX | Homo sapiens | A8MZ59 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | LEUTX | Homo sapiens | A8MZ59 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | EVI2B | Homo sapiens | P34910-2 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | EVI2B | Homo sapiens | P34910-2 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | FAM209A | Homo sapiens | Q5JX71 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | FAM209A | Homo sapiens | Q5JX71 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | ERGIC3 | Homo sapiens | Q9Y282 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | CD79A | Homo sapiens | P11912 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | GIMAP5 | Homo sapiens | Q96F15 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | ERGIC3 | Homo sapiens | Q9Y282 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | ERG28 | Homo sapiens | Q9UKR5 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | AQP3 | Homo sapiens | Q92482 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | ERGIC3 | Homo sapiens | Q9Y282 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | CD79A | Homo sapiens | P11912 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | AQP3 | Homo sapiens | Q92482 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | AQP3 | Homo sapiens | Q92482 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | SAR1A | Homo sapiens | Q9NR31 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | SAR1A | Homo sapiens | Q9NR31 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | SAR1A | Homo sapiens | Q9NR31 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | MRM1 | Homo sapiens | Q6IN84 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | MRM1 | Homo sapiens | Q6IN84 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | STX1A | Homo sapiens | Q16623 | 32296183 | |
|
Intra
|
AQP3 | Q92482 | STX1A | Homo sapiens | Q16623 | 32296183 |
AQP3 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81400 | Aquaporin 3 Antibody (YA1145) | IHC-P | Human |
| HY-P81400A | Aquaporin 3 Antibody (YA1145)(PBS only) | IHC-P | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Acrokeratoderma, Hereditary Papulotranslucent |
|
|
| Oligohydramnios |
|
|
| Nephrogenic Diabetes Insipidus |
|
|
| Diabetes Insipidus |
|
|
| Polyhydramnios |
|
|
| Constipation |
|
|
| Hydrarthrosis |
|
|
| Pompholyx |
|
|
| X-Linked Nephrogenic Diabetes Insipidus |
|
|
| Nephrotic Syndrome |
|
|
| Gestational Diabetes Insipidus |
|
|
| Adrenal Gland Pheochromocytoma |
|
|
| Cystic Fibrosis |
|
|
| Lung Cancer Susceptibility 3 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | AQP3 | VGNC | VGNC:51701 |
| Mus musculus | AQP3 | MGD | MGI:1333777 |
| Macaca mulatta | AQP3 | VGNC | VGNC:103241 |
| Rattus norvegicus | AQP3 | RGD | RGD:68428 |
| Felis catus | AQP3 | VGNC | VGNC:102901 |
| Bos taurus | AQP3 | VGNC | VGNC:56935 |
| Others | AQP3 | NCBI |