AQP7 - aquaporin 7 Gene

Also Known as AQP7L; AQPap; GLYCQTL

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 364

About AQP7

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:33,383,191-33,402,568 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AQP7 Protein Structure

MIP

MIP: Major intrinsic protein (30 - 272)

  • 0
  • 100
  • 200
  • 300
  • 342 a.a.
Protein Preferred Names Protein Names

aquaporin-7

  • aquaglyceroporin-7

AQP7 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
AQP7 O14520 PLIN1 Homo sapiens O60240 27832861
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Glycerol Quantitative Trait Locus
  • Glycerol Release During Exercise, Defective

  • GLYCQTL

Body Mass Index Quantitative Trait Locus 11
  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • Obesity , Susceptibility To

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis

Hydrarthrosis
Spermatogenic Failure 8
  • SPGF8

Constipation
Nephrogenic Diabetes Insipidus
  • Vasopressin-Resistant Diabetes Insipidus

  • Diabetes Insipidus, Nephrogenic

  • Diabetes Insipidus Nephrogenic

  • Congenital Nephrogenic Diabetes Insipidus

  • Adh Resistant Diabetes Insipidus

  • Diabetes Insipidus Nephrogenic X-Linked

  • Diabetes Insipidus Nephrogenic Type 1

  • Adh-Resistant Diabetes Insipidus

  • Diabetes Insipidus Renalis

  • Ndi

  • Renal Diabetes Insipidus

  • Familial Nephrogenic Diabetes

  • Antidiuretic-Hormone-Resistant Diabetes Insipidus

  • Adiuretin-Resistant Diabetes Insipidus

  • Ndi - [Nephrogenic Diabetes Insipidus]

  • Diabetes Tenuifluus

  • Adh - [Antidiuretic-Hormone] Resistant Diabetes Insipidus

  • Hereditary Nephrogenic Diabetes Insipidus

  • Familial Nephrogenic Diabetes Insipidus

  • Primary Nephrogenic Diabetes Insipidus

Type 2 Diabetes Mellitus
  • Insulin Resistance

  • NIDDM

  • Type 2 Diabetes

  • Diabetes Mellitus, Non-Insulin-Dependent

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes

Psoriasis 11
  • PSORS11

  • Psoriasis Susceptibility 11

  • Psoriasis

  • Psoriasis Vulgaris

  • Psoriasis 11, Susceptibility To

  • Pv

Oligohydramnios
  • Oligohydramnios - Delivered

  • Antepartum Oligohydramnios

  • Delivered Oligohydramnios

  • Oligohydramnios, Antepartum Condition Or Complication

  • Deficient Liquor

  • Oligohydramnios, Unspecified Trimester

  • Reduced Liquor Volume

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus AQP7 RGD RGD:2145
Mus musculus AQP7 MGD MGI:1314647
Others AQP7 NCBI