Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	358
Gene name	Aquaporin 1 (Colton blood group)
Gene symbol	AQP1
Synonyms (NCBI Gene)	AQP-CHIPCHIP28CO
Chromosome	7
Chromosome location	7p14.3
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs104894004	C>A,T	Pathogenic	Missense variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT006497	hsa-miR-320a	Luciferase reporter assay	20628061
MIRT006497	hsa-miR-320a	Luciferase reporter assay	20628061
MIRT006497	hsa-miR-320a	Luciferase reporter assay	20628061
MIRT736549	hsa-miR-3194-3p	Luciferase reporter assayWestern blottingqRT-PCR	32903818
MIRT791425	hsa-miR-1324	CLIP-seq
MIRT791426	hsa-miR-2278	CLIP-seq
MIRT791427	hsa-miR-2467-3p	CLIP-seq
MIRT791428	hsa-miR-3166	CLIP-seq
MIRT791429	hsa-miR-3678-3p	CLIP-seq
MIRT791430	hsa-miR-4311	CLIP-seq
MIRT791431	hsa-miR-4468	CLIP-seq
MIRT791432	hsa-miR-2110	CLIP-seq
MIRT791433	hsa-miR-3150a-3p	CLIP-seq
MIRT791434	hsa-miR-3164	CLIP-seq
MIRT791435	hsa-miR-3187-3p	CLIP-seq
MIRT791436	hsa-miR-4271	CLIP-seq
MIRT791437	hsa-miR-4435	CLIP-seq
MIRT791438	hsa-miR-4701-5p	CLIP-seq
MIRT791439	hsa-miR-4725-3p	CLIP-seq
MIRT791440	hsa-miR-548s	CLIP-seq
MIRT791441	hsa-miR-588	CLIP-seq
MIRT791442	hsa-miR-635	CLIP-seq
MIRT1933461	hsa-miR-146a	CLIP-seq
MIRT1933462	hsa-miR-146b-5p	CLIP-seq
MIRT1933463	hsa-miR-3123	CLIP-seq
MIRT1933464	hsa-miR-3130-3p	CLIP-seq
MIRT1933465	hsa-miR-3185	CLIP-seq
MIRT1933466	hsa-miR-346	CLIP-seq
MIRT1933467	hsa-miR-3925-5p	CLIP-seq
MIRT1933468	hsa-miR-4288	CLIP-seq
MIRT1933469	hsa-miR-4643	CLIP-seq
MIRT1933470	hsa-miR-4793-3p	CLIP-seq
MIRT1933471	hsa-miR-632	CLIP-seq
MIRT1933472	hsa-miR-767-3p	CLIP-seq
MIRT2477140	hsa-miR-323b-5p	CLIP-seq
MIRT2477141	hsa-miR-4646-3p	CLIP-seq
MIRT2477142	hsa-miR-4799-5p	CLIP-seq
MIRT2477143	hsa-miR-642a	CLIP-seq
MIRT2477140	hsa-miR-323b-5p	CLIP-seq
MIRT2477141	hsa-miR-4646-3p	CLIP-seq
MIRT2477142	hsa-miR-4799-5p	CLIP-seq
MIRT2477143	hsa-miR-642a	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003091	Process	Renal water homeostasis	TAS
GO:0003094	Process	Glomerular filtration	IEA
GO:0003097	Process	Renal water transport	IBA
GO:0003097	Process	Renal water transport	IDA	9096382
GO:0005223	Function	Intracellularly cGMP-activated cation channel activity	IDA	14561230
GO:0005267	Function	Potassium channel activity	IMP	11914159
GO:0005372	Function	Water transmembrane transporter activity	IDA	7521540, 8576117, 8584435, 9096382, 9321919, 11914159, 12172703, 12766090, 14561230
GO:0005372	Function	Water transmembrane transporter activity	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 18509662, 19060904, 19447967, 19584911, 25416956, 25910212, 32296183
GO:0005634	Component	Nucleus	IDA	17645239
GO:0005737	Component	Cytoplasm	IDA	16814974, 17645239, 18509662, 19545896, 21118806
GO:0005886	Component	Plasma membrane	IDA	7544358
GO:0005886	Component	Plasma membrane	IDA	7491270, 9321919, 12002613, 12051745, 14521551, 17012249, 17645239, 18392839, 18509662, 19545896, 19584911, 21118806
GO:0005886	Component	Plasma membrane	TAS	1722319
GO:0005903	Component	Brush border	IDA	16133142, 16814974
GO:0005903	Component	Brush border	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006813	Process	Potassium ion transport	ISS
GO:0006833	Process	Water transport	IDA	7521540, 8576117, 8584435, 9321919, 11914159, 12172703, 12766090, 14561230
GO:0006833	Process	Water transport	IEA
GO:0006833	Process	Water transport	IMP	19424603
GO:0006884	Process	Cell volume homeostasis	IMP	11922632
GO:0006972	Process	Hyperosmotic response	IBA
GO:0008519	Function	Ammonium channel activity	IBA
GO:0008519	Function	Ammonium channel activity	IDA	19273840
GO:0009925	Component	Basal plasma membrane	IDA	17409744
GO:0009992	Process	Intracellular water homeostasis	IDA	21251984
GO:0010761	Process	Fibroblast migration	IEA
GO:0010763	Process	Positive regulation of fibroblast migration	IEA
GO:0015079	Function	Potassium ion transmembrane transporter activity	IEA
GO:0015079	Function	Potassium ion transmembrane transporter activity	ISS
GO:0015168	Function	Glycerol transmembrane transporter activity	IBA
GO:0015168	Function	Glycerol transmembrane transporter activity	IDA	7491270, 8584435
GO:0015250	Function	Water channel activity	EXP	1373524, 1510932, 11034202, 14701836, 18202181
GO:0015250	Function	Water channel activity	IBA
GO:0015250	Function	Water channel activity	IDA	9733774, 12801959, 21251984
GO:0015250	Function	Water channel activity	IEA
GO:0015250	Function	Water channel activity	IMP	19424603
GO:0015267	Function	Channel activity	IEA
GO:0015670	Process	Carbon dioxide transport	IDA	12745312, 16574458, 19273840
GO:0015793	Process	Glycerol transmembrane transport	IDA	7491270, 8584435
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	9013443, 9096382, 12766090, 12801959, 16133142, 16814974, 18617525
GO:0016324	Component	Apical plasma membrane	IDA	9013443, 9096382, 12766090, 12801959, 16133142, 17890385, 18617525
GO:0016477	Process	Cell migration	IEA
GO:0019233	Process	Sensory perception of pain	IEA
GO:0019725	Process	Cellular homeostasis	IDA	19268465
GO:0019934	Process	CGMP-mediated signaling	IDA	14561230
GO:0021670	Process	Lateral ventricle development	IEA
GO:0021670	Process	Lateral ventricle development	IEP	16133142
GO:0022857	Function	Transmembrane transporter activity	IDA	17012249
GO:0030157	Process	Pancreatic juice secretion	IEP	12801959
GO:0030184	Function	Nitric oxide transmembrane transporter activity	IDA	16682607
GO:0030185	Process	Nitric oxide transport	IDA	16682607
GO:0030424	Component	Axon	IEA
GO:0030950	Process	Establishment or maintenance of actin cytoskeleton polarity	IMP	19584911
GO:0031526	Component	Brush border membrane	IDA	9013443
GO:0031965	Component	Nuclear membrane	IDA	17645239
GO:0032940	Process	Secretion by cell	IEA
GO:0033326	Process	Cerebrospinal fluid secretion	IEP	16814974
GO:0033363	Process	Secretory granule organization	IEA
GO:0034644	Process	Cellular response to UV	IDA	19424603
GO:0035377	Process	Transepithelial water transport	IDA	12766090
GO:0035378	Process	Carbon dioxide transmembrane transport	IBA
GO:0035378	Process	Carbon dioxide transmembrane transport	IDA	17012249
GO:0035379	Function	Carbon dioxide transmembrane transporter activity	IBA
GO:0035379	Function	Carbon dioxide transmembrane transporter activity	IDA	17012249
GO:0042060	Process	Wound healing	IEA
GO:0042383	Component	Sarcolemma	IDA	17409744
GO:0042476	Process	Odontogenesis	IEP	12522663
GO:0042802	Function	Identical protein binding	IPI	17632520, 25416956
GO:0043066	Process	Negative regulation of apoptotic process	IDA	16565507
GO:0044241	Process	Lipid digestion	IEA
GO:0045177	Component	Apical part of cell	IDA	14675051
GO:0045766	Process	Positive regulation of angiogenesis	IMP	18275976
GO:0046875	Function	Ephrin receptor binding	IEA
GO:0046878	Process	Positive regulation of saliva secretion	IMP	9096382, 15727941
GO:0048146	Process	Positive regulation of fibroblast proliferation	IDA	16565507
GO:0048593	Process	Camera-type eye morphogenesis	IEA
GO:0050829	Process	Defense response to Gram-negative bacterium	IEA
GO:0050829	Process	Defense response to Gram-negative bacterium	IMP	18665841
GO:0050891	Process	Multicellular organismal-level water homeostasis	IEA
GO:0050891	Process	Multicellular organismal-level water homeostasis	IEP	17645239
GO:0051458	Process	Corticotropin secretion	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070062	Component	Extracellular exosome	IDA	15326289
GO:0070062	Component	Extracellular exosome	IEA
GO:0070295	Process	Renal water absorption	IEA
GO:0070301	Process	Cellular response to hydrogen peroxide	IDA	19424603
GO:0071260	Process	Cellular response to mechanical stimulus	IDA	19268465
GO:0071280	Process	Cellular response to copper ion	IDA	7491270, 8584435
GO:0071288	Process	Cellular response to mercury ion	IDA	7491270, 8584435, 9321919, 12172703, 12745312
GO:0071300	Process	Cellular response to retinoic acid	IDA	12051745, 19424603
GO:0071320	Process	Cellular response to cAMP	IDA	18538351
GO:0071320	Process	Cellular response to cAMP	IEP	17636236
GO:0071456	Process	Cellular response to hypoxia	IDA	18275976
GO:0071472	Process	Cellular response to salt stress	IDA	18509662
GO:0071474	Process	Cellular hyperosmotic response	IMP	11922632
GO:0071549	Process	Cellular response to dexamethasone stimulus	IDA	16711029
GO:0071732	Process	Cellular response to nitric oxide	IDA	14561230
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0072220	Process	Metanephric descending thin limb development	IEA
GO:0072230	Process	Metanephric proximal straight tubule development	IEA
GO:0072232	Process	Metanephric proximal convoluted tubule segment 2 development	IEA
GO:0072239	Process	Metanephric glomerulus vasculature development	IEA
GO:0072488	Process	Ammonium transmembrane transport	IDA	16574458, 19273840
GO:0080170	Process	Hydrogen peroxide transmembrane transport	IEA
GO:0098655	Process	Monoatomic cation transmembrane transport	IEA
GO:0140070	Function	Hydrogen peroxide channel activity	IDA	33028705
GO:0170014	Component	Ankyrin-1 complex	IDA	35835865

MIM	HGNC	e!Ensembl
107776	633	ENSG00000240583

P29972

Protein name

Aquaporin-1 (AQP-1) (Aquaporin-CHIP) (Channel-like integral membrane protein of 28 kDa) (Urine water channel)

Protein function

Forms a water channel that facilitates the transport of water across cell membranes, playing a crucial role in water homeostasis in various tissues (PubMed:1373524, PubMed:23219802). Could also be permeable to small solutes including hydrogen pe

PDB

1FQY , 1H6I , 1IH5 , 4CSK , 6POJ , 7UZE , 8CT2 , 8CTE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00230	MIP	4 → 227	Major intrinsic protein	Family

Tissue specificity

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

MASEFKKKLFWRAVVAEFLATTLFVFISIGSALGFKYPVGNNQTAVQDNVKVSLAFGLSI
ATLAQSVGHISGAHLNPAVTLGLLLSCQISIFRALMYIIAQCVGAIVATAILSGITSSLT
GNSLGRNDLADGVNSGQGLGIEIIGTLQLVLCVLATTDRRRRDLGGSAPLAIGLSVALGH
LLAIDYTGCGINPARSFGSAVITHNFSNHWIFWVGPFIGGALAVLIYDFILAPRSSDLTD
RVKVWTSGQVEEYDLDADDINSRVEMKPK

Sequence length

269

Interactions

View interactions

	KEGG		Reactome
	Renin secretion Proximal tubule bicarbonate reclamation Bile secretion		Erythrocytes take up carbon dioxide and release oxygen Erythrocytes take up oxygen and release carbon dioxide Vasopressin regulates renal water homeostasis via Aquaporins Passive transport by Aquaporins

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Colton-null phenotype	Pathogenic	rs104894004	RCV000019425	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (25)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AQP1-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER CALCULUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLEDOCHAL CYST	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLTON BLOOD GROUP POLYMORPHISM	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EDEMA, CARDIAC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HUNTINGTON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTHYROIDISM	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY, AUTOSOMAL RECESSIVE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY HYPERTHYROIDISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY ARTERIAL HYPERTENSION	—	ClinGen, Disgenet, GenCC ClinGen, Disgenet, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALIVARY GLAND NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOXIC SHOCK SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

AQP1 (aquaporin 1 (Colton blood group))