1. Gene
  2. AQP3 - aquaporin 3 (Gill blood group) Gene

AQP3 - aquaporin 3 (Gill blood group) Gene

Homo sapiens

Also known as GIL; AQP-3

Gene ID: 360 | Gene type: protein coding

About AQP3

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:33,441,160-33,447,593 (from NCBI)

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference 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
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

AQP3 Protein Structure

MIP

MIP: Major intrinsic protein (20 - 261)

  • 0
  • 100
  • 200
  • 292 a.a.
Protein Preferred Names Protein Names

aquaporin-3

aquaglyceroporin-3

AQP3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra AQP3 Q92482 VASN Homo sapiens Q6EMK4
Y2H Prey Pooling
32296183
Intra AQP3 Q92482 VASN Homo sapiens Q6EMK4
Y2H Array
32296183
Intra AQP3 Q92482 SGPL1 Homo sapiens O95470
Y2H Array
32296183
Intra AQP3 Q92482 SGPL1 Homo sapiens O95470
Y2H Prey Pooling
32296183
Intra AQP3 Q92482 HIBADH Homo sapiens P31937
Y2H Prey Pooling
32296183
Intra AQP3 Q92482 HIBADH Homo sapiens P31937
Y2H Array
32296183
Intra AQP3 Q92482 GPX8 Homo sapiens Q8TED1
Y2H Prey Pooling
32296183
Intra AQP3 Q92482 GPX8 Homo sapiens Q8TED1
Y2H Array
32296183
Intra AQP3 Q92482 MFF Homo sapiens Q9GZY8-5
Y2H Array
32296183
Intra AQP3 Q92482 MFF Homo sapiens Q9GZY8-5
Y2H Prey Pooling
32296183
Intra AQP3 Q92482 MFF Homo sapiens Q9GZY8-5
Validated Y2H
32296183
Intra AQP3 Q92482 GPR152 Homo sapiens Q8TDT2
Y2H Prey Pooling
32296183
Intra AQP3 Q92482 GPR152 Homo sapiens Q8TDT2
Y2H Array
32296183
Intra AQP3 Q92482 MUC1 Homo sapiens P15941-11
Y2H Prey Pooling
32296183
Intra AQP3 Q92482 MUC1 Homo sapiens P15941-11
Y2H Array
32296183
Intra AQP3 Q92482 SSMEM1 Homo sapiens Q8WWF3
Y2H Prey Pooling
32296183
Intra AQP3 Q92482 SSMEM1 Homo sapiens Q8WWF3
Y2H Array
32296183
Intra AQP3 Q92482 LEUTX Homo sapiens A8MZ59
Y2H Array
32296183
Intra AQP3 Q92482 LEUTX Homo sapiens A8MZ59
Y2H Prey Pooling
32296183
Intra AQP3 Q92482 EVI2B Homo sapiens P34910-2
Y2H Array
32296183
Intra AQP3 Q92482 EVI2B Homo sapiens P34910-2
Y2H Prey Pooling
32296183
Intra AQP3 Q92482 FAM209A Homo sapiens Q5JX71
Y2H Array
32296183
Intra AQP3 Q92482 FAM209A Homo sapiens Q5JX71
Y2H Prey Pooling
32296183
Intra AQP3 Q92482 ERGIC3 Homo sapiens Q9Y282
Y2H Prey Pooling
32296183
Intra AQP3 Q92482 CD79A Homo sapiens P11912
Y2H Prey Pooling
32296183
Intra AQP3 Q92482 GIMAP5 Homo sapiens Q96F15
Validated Y2H
32296183
Intra AQP3 Q92482 ERGIC3 Homo sapiens Q9Y282
Validated Y2H
32296183
Intra AQP3 Q92482 ERG28 Homo sapiens Q9UKR5
Validated Y2H
32296183
Intra AQP3 Q92482 AQP3 Homo sapiens Q92482
Y2H Prey Pooling
32296183
Intra AQP3 Q92482 ERGIC3 Homo sapiens Q9Y282
Y2H Array
32296183
Intra AQP3 Q92482 CD79A Homo sapiens P11912
Y2H Array
32296183
Intra AQP3 Q92482 AQP3 Homo sapiens Q92482
Validated Y2H
32296183
Intra AQP3 Q92482 AQP3 Homo sapiens Q92482
Y2H Array
32296183
Intra AQP3 Q92482 SAR1A Homo sapiens Q9NR31
Validated Y2H
32296183
Intra AQP3 Q92482 SAR1A Homo sapiens Q9NR31
Y2H Prey Pooling
32296183
Intra AQP3 Q92482 SAR1A Homo sapiens Q9NR31
Y2H Array
32296183
Intra AQP3 Q92482 MRM1 Homo sapiens Q6IN84
Y2H Prey Pooling
32296183
Intra AQP3 Q92482 MRM1 Homo sapiens Q6IN84
Y2H Array
32296183
Intra AQP3 Q92482 STX1A Homo sapiens Q16623
Y2H Array
32296183
Intra AQP3 Q92482 STX1A Homo sapiens Q16623
Y2H Prey Pooling
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Acrokeratoderma, Hereditary Papulotranslucent

Hereditary Papulotranslucent Acrokeratoderma

Oligohydramnios

Oligohydramnios - Delivered

Antepartum Oligohydramnios

Delivered Oligohydramnios

Oligohydramnios, Antepartum Condition Or Complication

Deficient Liquor

Oligohydramnios, Unspecified Trimester

Reduced Liquor Volume

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

Diabetes Insipidus
Polyhydramnios
Constipation
Hydrarthrosis
Pompholyx

Dyshidrosis

Vesicular Eczema Of Hands And/Or Feet

Cheiropompholyx

Dyshydrotic Eczema

Eczema, Dyshidrotic

Vesicular Hand Eczema

X-Linked Nephrogenic Diabetes Insipidus

Nephrogenic Diabetes Insipidus Type 1

Doid:0081060

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis

Gestational Diabetes Insipidus

Transient Diabetes Insipidus Of Pregnancy

Diabetes Insipidus Gestational

Gestagenic Diabetes Insipidus

Doid:0081057

Adrenal Gland Pheochromocytoma

Pheochromocytoma

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Lung Cancer Susceptibility 3

Lung Adenocarcinoma

Adenocarcinoma Of Lung

LNCR3

Adenocarcinoma Of Lung, Susceptibility To

Bronchogenic Lung Adenocarcinoma

Nonsmall Cell Adenocarcinoma

Adenocarcinoma Lung

Lung Adenocarcinomas

Non-Small Cell Adenocarcinoma

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
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