AQP7 - aquaporin 7 Gene
Also Known as AQP7L; AQPap; GLYCQTL
Species: Homo sapiens
About AQP7
This gene has 19 transcripts (splice variants), 202 orthologues, 11 paralogues and is associated with 1 phenotype. Biased expression in fat (RPKM 81.2), heart (RPKM 10.9) and 3 other tissues.
Summary
This gene encodes a member of the Aquaporin family of water-selective membrane channels. The encoded protein localizes to the plasma membrane and allows movement of water, glycerol and urea across cell membranes. This gene is highly expressed in the adipose tissue where the encoded protein facilitates efflux of glycerol. In the proximal straight tubules of kidney, the encoded protein is localized to the apical membrane and prevents excretion of glycerol into urine. The encoded protein is present in spermatids, as well as in the testicular and epididymal spermatozoa suggesting an important role in late spermatogenesis. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene is located adjacent to a related Aquaporin gene on chromosome 9. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Dec 2015]
AQP7 Products (7)
| mRNA | Protein | Name |
|---|---|---|
| NM_001170.3 | NP_001161.1 | aquaporin-7 isoform 1 |
| NM_001318156.2 | NP_001305085.1 | aquaporin-7 isoform 2 |
| NM_001318157.2 | NP_001305086.1 | aquaporin-7 isoform 3 |
| NM_001318158.2 | NP_001305087.1 | aquaporin-7 isoform 4 |
| NM_001376191.1 | NP_001363120.1 | aquaporin-7 isoform 1 |
| NM_001376192.1 | NP_001363121.1 | aquaporin-7 isoform 5 |
| NM_001376193.1 | NP_001363122.1 | aquaporin-7 isoform 5 |
| Molecular Function GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| enables glycerol channel activity |
EXP
EXP: Inferred from Experiment
|
9405233 | GOA |
| enables glycerol channel activity |
IDA
IDA: Inferred from direct assay
|
11952783 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
27832861 | GOA |
| enables water channel activity |
IDA
IDA: Inferred from direct assay
|
11952783 | GOA |
| Biological Process GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| involved in glycerol transmembrane transport |
IDA
IDA: Inferred from direct assay
|
11952783 | GOA |
| involved in water transport |
IDA
IDA: Inferred from direct assay
|
11952783 | GOA |
| Cellular Component GO Annotation | Evidence | Références | 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
|
11952783 | GOA |
AQP7 Protein Structure
MIP: Major intrinsic protein (30 - 272)
- 0
- 100
- 200
- 300
- 342 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
aquaporin-7 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Glycerol Quantitative Trait Locus |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Hydrarthrosis |
|
|
| Spermatogenic Failure 8 |
|
|
| Constipation |
|
|
| Nephrogenic Diabetes Insipidus |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Psoriasis 11 |
|
|
| Oligohydramnios |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | AQP7 | RGD | RGD:2145 |
| Mus musculus | AQP7 | MGD | MGI:1314647 |
| Others | AQP7 | NCBI |