AQP3 - aquaporin 3 (Gill blood group) Gene

Also Known as GIL; AQP-3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 360

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
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
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 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
Cross: Cross-species interaction Intra: Intraspecies interaction

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
  • 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
Others AQP3 NCBI