• Gene id: 358

Gene Summary

• Gene Symbol: AQP1   Gene   UCSC   Ensembl
• Aliases: AQP-CHIP, CHIP28, CO
• Gene name: aquaporin 1 (Colton blood group)
• Alternate names: aquaporin-1, aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group), aquaporin 1, Colton blood group antigen, aquaporin-CHIP, channel-like integral membrane protein, 28-kDa, urine water channel, water channel protein for red blood cells and kidne,
• Gene location: 7p14.3 (30911852: 30925515)     Exons: 4     NC_000007.14
• Gene summary(Entrez): This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradient. This gene is a possible candidate for disorders inv
• OMIM: 609584

Protein Summary

• Protein general information: P29972  
  • Name: Aquaporin 1 (AQP 1) (Aquaporin CHIP) (Urine water channel) (Water channel protein for red blood cells and kidney proximal tubule)
  • Length: 269  
  • Mass: 28526
  • Tissue specificity: Detected in erythrocytes (at protein level). Expressed in a number of tissues including erythrocytes, renal tubules, retinal pigment epithelium, heart, lung, skeletal muscle, kidney and pancreas. Weakly expressed in brain, placenta and
• Sequence:

  MASEFKKKLFWRAVVAEFLATTLFVFISIGSALGFKYPVGNNQTAVQDNVKVSLAFGLSIATLAQSVGHISGAHL
  NPAVTLGLLLSCQISIFRALMYIIAQCVGAIVATAILSGITSSLTGNSLGRNDLADGVNSGQGLGIEIIGTLQLV
  LCVLATTDRRRRDLGGSAPLAIGLSVALGHLLAIDYTGCGINPARSFGSAVITHNFSNHWIFWVGPFIGGALAVL
  IYDFILAPRSSDLTDRVKVWTSGQVEEYDLDADDINSRVEMKPK

• Structural information:
  • Interpro: IPR023271  IPR023274  IPR034294  IPR000425  IPR022357  
  • Prosite: PS00221
  • CDD: cd00333
  • PDB: 1FQY 1H6I 1IH5 4CSK 6POJ
  • PDBsum: 1FQY 1H6I 1IH5 4CSK 6POJ
  • DIP: 29607
  • STRING: ENSP00000311165
• Other Databases: GeneCards:  AQP1  Malacards:  AQP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003097	renal water transport	IBA	biological process
GO:0006833	water transport	IBA	biological process
GO:0016021	integral component of membrane	IBA	cellular component
GO:0035379	carbon dioxide transmembrane transporter activity	IBA	molecular function
GO:0006972	hyperosmotic response	IBA	biological process
GO:0008519	ammonium transmembrane transporter activity	IBA	molecular function
GO:0015168	glycerol transmembrane transporter activity	IBA	molecular function
GO:0015250	water channel activity	IBA	molecular function
GO:0035378	carbon dioxide transmembrane transport	IBA	biological process
GO:0015250	water channel activity	IDA	molecular function
GO:0009992	cellular water homeostasis	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	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:0016021	integral component of membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
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: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:0005886	plasma membrane	TAS	cellular component
GO:0006833	water transport	TAS	biological process
GO:0015701	bicarbonate transport	TAS	biological process
GO:0015701	bicarbonate transport	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
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: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: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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0098655	cation transmembrane transport	IEA	biological process
GO:0072488	ammonium transmembrane transport	IEA	biological process
GO:0072488	ammonium transmembrane transport	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071472	cellular response to salt stress	IDA	biological process
GO:0071456	cellular response to hypoxia	IDA	biological process
GO:0071320	cellular response to cAMP	IDA	biological process
GO:0071288	cellular response to mercury ion	IDA	biological process
GO:0045177	apical part of cell	IDA	cellular component
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0035378	carbon dioxide transmembrane transport	IDA	biological process
GO:0019725	cellular homeostasis	IDA	biological process
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0015793	glycerol transport	IDA	biological process
GO:0008519	ammonium transmembrane transporter activity	IDA	molecular function
GO:0005223	intracellular cGMP-activated cation channel activity	IDA	molecular function
GO:0071732	cellular response to nitric oxide	IDA	biological process
GO:0071300	cellular response to retinoic acid	IDA	biological process
GO:0071300	cellular response to retinoic acid	IDA	biological process
GO:0071241	cellular response to inorganic substance	IDA	biological process
GO:0042493	response to drug	IDA	biological process
GO:0042383	sarcolemma	IDA	cellular component
GO:0035379	carbon dioxide transmembrane transporter activity	IDA	molecular function
GO:0034644	cellular response to UV	IDA	biological process
GO:0031965	nuclear membrane	IDA	cellular component
GO:0031526	brush border membrane	IDA	cellular component
GO:0030185	nitric oxide transport	IDA	biological process
GO:0030184	nitric oxide transmembrane transporter activity	IDA	molecular function
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0015670	carbon dioxide transport	IDA	biological process
GO:0006833	water transport	IDA	biological process
GO:0006833	water transport	IDA	biological process
GO:0006833	water transport	IDA	biological process
GO:0006833	water transport	IDA	biological process
GO:0006833	water transport	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	NOT|cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005372	water transmembrane transporter activity	IDA	molecular function
GO:0005372	water transmembrane transporter activity	IDA	molecular function
GO:0005372	water transmembrane transporter activity	IDA	molecular function
GO:0071288	cellular response to mercury ion	IDA	biological process
GO:0071288	cellular response to mercury ion	IDA	biological process
GO:0071288	cellular response to mercury ion	IDA	biological process
GO:0071288	cellular response to mercury ion	IDA	biological process
GO:0022857	transmembrane transporter activity	IDA	molecular function
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0015793	glycerol transport	IDA	biological process
GO:0015696	ammonium transport	IDA	biological process
GO:0015696	ammonium transport	IDA	biological process
GO:0015250	water channel activity	IDA	molecular function
GO:0015168	glycerol transmembrane transporter activity	IDA	molecular function
GO:0015168	glycerol transmembrane transporter activity	IDA	molecular function
GO:0019934	cGMP-mediated signaling	IDA	biological process
GO:0071549	cellular response to dexamethasone stimulus	IDA	biological process
GO:0071280	cellular response to copper ion	IDA	biological process
GO:0071280	cellular response to copper ion	IDA	biological process
GO:0071260	cellular response to mechanical stimulus	IDA	biological process
GO:0070301	cellular response to hydrogen peroxide	IDA	biological process
GO:0048146	positive regulation of fibroblast proliferation	IDA	biological process
GO:0035377	transepithelial water transport	IDA	biological process
GO:0020005	symbiont-containing vacuole membrane	IDA	colocalizes with
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0015670	carbon dioxide transport	IDA	biological process
GO:0015670	carbon dioxide transport	IDA	biological process
GO:0009925	basal plasma membrane	IDA	cellular component
GO:0006833	water transport	IDA	biological process
GO:0006833	water transport	IDA	biological process
GO:0006833	water transport	IDA	biological process
GO:0005903	brush border	IDA	cellular component
GO:0005903	brush border	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
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:0005737	cytoplasm	IDA	cellular component
GO:0005372	water transmembrane transporter activity	IDA	molecular function
GO:0005372	water transmembrane transporter activity	IDA	molecular function
GO:0005372	water transmembrane transporter activity	IDA	molecular function
GO:0005372	water transmembrane transporter activity	IDA	molecular function
GO:0005372	water transmembrane transporter activity	IDA	molecular function
GO:0005372	water transmembrane transporter activity	IDA	molecular function
GO:0003097	renal water transport	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0071474	cellular hyperosmotic response	IMP	biological process
GO:0071320	cellular response to cAMP	IEP	biological process
GO:0030157	pancreatic juice secretion	IEP	biological process
GO:0085018	maintenance of symbiont-containing vacuole by host	IMP	biological process
GO:0050891	multicellular organismal water homeostasis	IEP	biological process
GO:0042476	odontogenesis	IEP	biological process
GO:0033326	cerebrospinal fluid secretion	IEP	biological process
GO:0021670	lateral ventricle development	IEP	biological process
GO:0006833	water transport	IMP	biological process
GO:0006813	potassium ion transport	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0015250	water channel activity	IMP	molecular function
GO:0006884	cell volume homeostasis	IMP	biological process
GO:0005267	potassium channel activity	IMP	molecular function
GO:0046878	positive regulation of saliva secretion	IMP	biological process
GO:0046878	positive regulation of saliva secretion	IMP	biological process
GO:0045766	positive regulation of angiogenesis	IMP	biological process
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	biological process
GO:0030950	establishment or maintenance of actin cytoskeleton polarity	IMP	biological process
GO:0020003	symbiont-containing vacuole	ISS	cellular component
GO:0015079	potassium ion transmembrane transporter activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04924	Renin secretion
hsa04976	Bile secretion
hsa04964	Proximal tubule bicarbonate reclamation

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R