• Gene id: 360

Gene Summary

• Gene Symbol: AQP3   Gene   UCSC   Ensembl
• Aliases: AQP-3, GIL
• Gene name: aquaporin 3 (Gill blood group)
• Alternate names: aquaporin-3, aquaglyceroporin-3, aquaporin 3 (GIL blood group),
• Gene location: 9p13.3 (33447595: 33441153)     Exons: 6     NC_000009.12
• Gene summary(Entrez): 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 d
• OMIM: 600170

Protein Summary

• Protein general information: Q92482  
  • Name: Aquaporin 3 (AQP 3) (Aquaglyceroporin 3)
  • Length: 292  
  • Mass: 31544
  • Tissue specificity: Widely expressed in epithelial cells of kidney (collecting ducts) and airways, in keratinocytes, immature dendritic cells and erythrocytes. Isoform 2 is not detectable in erythrocytes at the protein level.
• Sequence:

  MGRQKELVSRCGEMLHIRYRLLRQALAECLGTLILVMFGCGSVAQVVLSRGTHGGFLTINLAFGFAVTLGILIAG
  QVSGAHLNPAVTFAMCFLAREPWIKLPIYTLAQTLGAFLGAGIVFGLYYDAIWHFADNQLFVSGPNGTAGIFATY
  PSGHLDMINGFFDQFIGTASLIVCVLAIVDPYNNPVPRGLEAFTVGLVVLVIGTSMGFNSGYAVNPARDFGPRLF
  TALAGWGSAVFTTGQHWWWVPIVSPLLGSIAGVFVYQLMIGCHLEQPPPSNEEENVKLAHVKHKEQI

• Structural information:
  • Interpro: IPR023271  IPR023275  IPR000425  IPR022357  
  • Prosite: PS00221
  • CDD: cd00333
  • STRING: ENSP00000297991
• Other Databases: GeneCards:  AQP3  Malacards:  AQP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015204	urea transmembrane transporter activity	IBA	molecular function
GO:0015254	glycerol channel activity	IDA	molecular function
GO:0015250	water channel activity	IDA	molecular function
GO:0015793	glycerol transport	IDA	biological process
GO:0006833	water transport	IDA	biological process
GO:0016323	basolateral plasma membrane	ISS	cellular component
GO:0015267	channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0071456	cellular response to hypoxia	IDA	biological process
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0003091	renal water homeostasis	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006833	water transport	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0090650	cellular response to oxygen-glucose deprivation	IEA	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0015840	urea transport	IEA	biological process
GO:0015793	glycerol transport	IEA	biological process
GO:0005911	cell-cell junction	IEA	cellular component
GO:0070295	renal water absorption	IEA	biological process
GO:0006833	water transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0015254	glycerol channel activity	IDA	molecular function
GO:0015250	water channel activity	TAS	molecular function
GO:0002684	positive regulation of immune system process	IDA	biological process
GO:0016021	integral component of membrane	IC	cellular component
GO:0032526	response to retinoic acid	IDA	biological process
GO:0045616	regulation of keratinocyte differentiation	TAS	biological process
GO:0051592	response to calcium ion	TAS	biological process
GO:0006833	water transport	TAS	biological process
GO:0033280	response to vitamin D	TAS	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0071918	urea transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005911	cell-cell junction	IDA	cellular component
GO:0042476	odontogenesis	IEP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04962	Vasopressin-regulated water reabsorption

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)