AQP1 aquaporin 1 (Colton blood group) [Homo sapiens (human)] - Gene

Summary

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Official Symbol: AQP1provided by HGNC
Official Full Name: aquaporin 1 (Colton blood group)provided by HGNC
Primary source: HGNC:633
See related: Ensembl:ENSG00000240583; HPRD:00140; MIM:107776; Vega:OTTHUMG00000023944
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CO; CHIP28; AQP-CHIP
Summary: Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This gene encodes an aquaporin which functions as a molecular water channel protein. It is a homotetramer with 6 bilayer spanning domains and N-glycosylation sites. The protein physically resembles channel proteins and is abundant in erythrocytes and renal tubes. The gene encoding this aquaporin is a possible candidate for disorders involving imbalance in ocular fluid movement. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

Genomic context

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Location :: 7p14

Sequence :: Chromosome: 7; NC_000007.13 (30951415..30965131)

See AQP1 in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

AQP-1 expression is increased in colorectal carcinoma while the expression of AQP-3 is not. There is no correlation between the expression of AQP-1 and AQP-3 in CRC.
Title: [Significance of aquaporin-1 and aquaporin-3 expression in colorectal carcinoma].
High AQP1 expression is associated with malignant pleural mesothelioma.
Title: Gene expression profile of aquaporin 1 and associated interactors in malignant pleural mesothelioma.
AQP1 expression correlates with the grade of malignancy in astrocytoma and is associated with angiogenesis, as well as with invasion of grade IV tumour in areas of tumour infiltration
Title: Correlation of aquaporin-1 water channel protein expression with tumor angiogenesis in human astrocytoma.
Data indicate reconstitution of AQP-1 into cholesterol-containing vesicles leads to drastic increases in P(CO2).
Title: CO2 permeability of cell membranes is regulated by membrane cholesterol and protein gas channels.
Stomatin interacts with GLUT1/SLC2A1, band 3/SLC4A1, and aquaporin-1 in human erythrocyte membrane domains
Title: Stomatin interacts with GLUT1/SLC2A1, band 3/SLC4A1, and aquaporin-1 in human erythrocyte membrane domains.
Selective expression of AQP1 in the trigeminal neurons innervating the oral mucosa indicates an involvement of AQP1 in oral sensory transduction.
Title: Cellular localization of aquaporin-1 in the human and mouse trigeminal systems.
The expression of AQP-1 mRNA was positively correlated with Bcl-2 mRNA expression in nasal polyps. AQP-1 contributes to the survival of eosinophils in nasal polyps.
Title: [Expression of aquaporin-1 and Bcl-2 mRNA in eosinophils of the nasal polyps and its significance].
AQP1 expression significantly increased in advanced stage of cervical cancer, deeper infiltration, metastatic lymph nodes and larger tumor volume.
Title: Significance and expression of aquaporin 1, 3, 8 in cervical carcinoma in Xinjiang Uygur women of China.
Exosomal AQP1 is downregulated after the release of ureteropelvic junction obstruction. This may be due to locally increased TGF-beta-1 in the postobstructed kidney.
Title: Early alteration of urinary exosomal aquaporin 1 and transforming growth factor β1 after release of unilateral pelviureteral junction obstruction.
AQP1 is normally expressed in the temporomandibular joint (TMJ) disc with a role in the maintenance of TMJ homeostasis
Title: Aquaporin 1 expression in human temporomandibular disc.

Submit: New GeneRIF Correction See all (117)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1.

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P29972	P29972	AQP1	HPRD	PubMed
P29972	Q15834	CCDC85B	HPRD	PubMed
P29972	O95967	EFEMP2	HPRD	PubMed
P29972	P29323	EPHB2	HPRD	PubMed
P29972	Q8N5Z5	KCTD17	HPRD	PubMed
P29972	Q9BQ66	KRTAP4-12	HPRD	PubMed
P29972	Q99750	MDFI	HPRD	PubMed
P29972	Q9NRD5	PICK1	HPRD	PubMed
P29972	Q15654	TRIP6	HPRD	PubMed
BioGRID:106854	BioGRID:120002	ADAMTSL4	BioGRID	PubMed	Two-hybrid
BioGRID:106854	BioGRID:116198	CCDC85B	BioGRID	PubMed	Two-hybrid
BioGRID:106854	BioGRID:119026	EFEMP2	BioGRID	PubMed	Two-hybrid
BioGRID:106854	BioGRID:122848	KCTD17	BioGRID	PubMed	Two-hybrid
BioGRID:106854	BioGRID:123756	KRTAP4-12	BioGRID	PubMed	Two-hybrid
BioGRID:106854	BioGRID:110353	MDFI	BioGRID	PubMed	Two-hybrid
BioGRID:106854	BioGRID:113056	TRIP6	BioGRID	PubMed	Two-hybrid

Pathways from BioSystems

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Aquaporin-mediated transport, organism-specific biosystem (from REACTOME)
Aquaporin-mediated transport, organism-specific biosystemAquaporins (AQP's) are six-pass transmembrane proteins that form channels in membranes. Each monomer contains a central channel formed in part by two asparagine-proline-alanine motifs (NPA boxes) tha...
Bile secretion, organism-specific biosystem (from KEGG)
Bile secretion, organism-specific biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
Bile secretion, conserved biosystem (from KEGG)
Bile secretion, conserved biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
O2/CO2 exchange in erythrocytes, organism-specific biosystem (from REACTOME)
O2/CO2 exchange in erythrocytes, organism-specific biosystemIn capillaries of the lungs erythrocytes release carbon dioxide (CO2) and acquire oxygen (O2). In other tissues of the body the reverse reaction occurs (reviewed in Nikinmaa 1997, Jensen 2004).In the...
Passive Transport by Aquaporins, organism-specific biosystem (from REACTOME)
Passive Transport by Aquaporins, organism-specific biosystemAquaporins (AQP's) are six-pass transmembrane proteins that form channels in membranes. Each monomer contains a central channel formed in part by two asparagine-proline-alanine motifs (NPA boxes) tha...
Proximal tubule bicarbonate reclamation, organism-specific biosystem (from KEGG)
Proximal tubule bicarbonate reclamation, organism-specific biosystemOne of the major tasks of the renal proximal tubule (PT) is to secrete acid into the tubule lumen, thereby reabsorbing approximately 80% of the filtered bicarbonate (HCO3(-)), as well as generating "...
Proximal tubule bicarbonate reclamation, conserved biosystem (from KEGG)
Proximal tubule bicarbonate reclamation, conserved biosystemOne of the major tasks of the renal proximal tubule (PT) is to secrete acid into the tubule lumen, thereby reabsorbing approximately 80% of the filtered bicarbonate (HCO3(-)), as well as generating "...
Regulation of Water Balance by Renal Aquaporins, organism-specific biosystem (from REACTOME)
Regulation of Water Balance by Renal Aquaporins, organism-specific biosystemIn the kidney water and solutes are passed out of the bloodstream and into the proximal tubule via the slit-like structure formed by nephrin in the glomerulus. Water is reabsorbed from the filtrate d...
Spinal Cord Injury, organism-specific biosystem (from WikiPathways)
Spinal Cord Injury, organism-specific biosystemThis pathway provides an overview of cell types, therapeutic targets, drugs, new proposed targets and pathways implicated in spinal cord injury. Spinal cord injury is a complex multistep process that...
Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
Transmembrane transport of small molecules, organism-specific biosystem
Transmembrane transport of small molecules
Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes, organism-specific biosystem (from REACTOME)
Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes, organism-specific biosystemCarbon dioxide (CO2) in plasma is hydrated to yield protons (H+) and bicarbonate (HCO3-) by carbonic anhydrase IV (CA4) located on the apical plasma membranes of endothelial cells. Plasma CO2 is also...
Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes, organism-specific biosystem (from REACTOME)
Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes, organism-specific biosystemErythrocytes circulating through the capillaries of the lung must exchange carbon dioxide (CO2) for oxygen (O2) during their short (0.5-1 sec.) transit time in pulmonary tissue (Reviewed in Jensen 20...

General gene information

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Markers

WI-9113 (e-PCR)
- UniSTS:1576

AQP1 (e-PCR)
- UniSTS:77638

STS-M77829 (e-PCR)
- UniSTS:74097

G68146 (e-PCR)
- UniSTS:225975

G68147 (e-PCR)
- UniSTS:225976

G68149 (e-PCR)
- UniSTS:225977

T03581 (e-PCR)
- UniSTS:41679

D7S2041E (e-PCR)
- UniSTS:42447

D7S2755 (e-PCR)
- UniSTS:30673

D7S2065E (e-PCR)
- UniSTS:48609

A007C48 (e-PCR)
- UniSTS:22256

GDB:593256 (e-PCR)
- UniSTS:157948

Genotypes

See AQP1 SNP Geneview Report
See AQP1 SNP Genotype Report
See AQP1 SNP Variation Viewer Report

Homology

Homologs of the AQP1 gene: The AQP1 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and A.thaliana.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ammonia transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
carbon dioxide transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
carbon dioxide transmembrane transporter activity	TAS Traceable Author Statement more info
glycerol transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
intracellular cGMP activated cation channel activity	IDA Inferred from Direct Assay more info	PubMed
nitric oxide transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
potassium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
potassium ion transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
water channel activity	EXP Inferred from Experiment more info
water channel activity	IDA Inferred from Direct Assay more info	PubMed
water channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
water transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
ammonium transport	IDA Inferred from Direct Assay more info	PubMed
bicarbonate transport	TAS Traceable Author Statement more info
cGMP biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
carbon dioxide transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
carbon dioxide transport	IDA Inferred from Direct Assay more info	PubMed
cell volume homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
cellular homeostasis	IDA Inferred from Direct Assay more info	PubMed
cellular hyperosmotic response	IMP Inferred from Mutant Phenotype more info	PubMed
cellular response to UV	IDA Inferred from Direct Assay more info	PubMed
cellular response to cAMP	IDA Inferred from Direct Assay more info	PubMed
cellular response to cAMP	IEP Inferred from Expression Pattern more info	PubMed
cellular response to copper ion	IDA Inferred from Direct Assay more info	PubMed
cellular response to dexamethasone stimulus	IDA Inferred from Direct Assay more info	PubMed
cellular response to hydrogen peroxide	IDA Inferred from Direct Assay more info	PubMed
cellular response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
cellular response to inorganic substance	IDA Inferred from Direct Assay more info	PubMed
cellular response to mechanical stimulus	IDA Inferred from Direct Assay more info	PubMed
cellular response to mercury ion	IDA Inferred from Direct Assay more info	PubMed
cellular response to nitric oxide	IDA Inferred from Direct Assay more info	PubMed
cellular response to retinoic acid	IDA Inferred from Direct Assay more info	PubMed
cellular response to salt stress	IDA Inferred from Direct Assay more info	PubMed
cellular response to stress	IDA Inferred from Direct Assay more info	PubMed
cerebrospinal fluid secretion	IEP Inferred from Expression Pattern more info	PubMed
establishment or maintenance of actin cytoskeleton polarity	IMP Inferred from Mutant Phenotype more info	PubMed
glycerol transport	IDA Inferred from Direct Assay more info	PubMed
lateral ventricle development	IEP Inferred from Expression Pattern more info	PubMed
maintenance of symbiont-containing vacuole by host	IMP Inferred from Mutant Phenotype more info	PubMed
multicellular organismal water homeostasis	IEP Inferred from Expression Pattern more info	PubMed
negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP Inferred from Mutant Phenotype more info
nitric oxide transport	IDA Inferred from Direct Assay more info	PubMed
odontogenesis	IEP Inferred from Expression Pattern more info	PubMed
pancreatic juice secretion	IEP Inferred from Expression Pattern more info	PubMed
positive regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of fibroblast proliferation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of saliva secretion	IMP Inferred from Mutant Phenotype more info	PubMed
potassium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
potassium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
potassium ion transport	ISS Inferred from Sequence or Structural Similarity more info
renal water transport	IDA Inferred from Direct Assay more info	PubMed
response to drug	IDA Inferred from Direct Assay more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info
transepithelial water transport	IDA Inferred from Direct Assay more info	PubMed
transmembrane transport	TAS Traceable Author Statement more info
water transport	IDA Inferred from Direct Assay more info	PubMed
water transport	IMP Inferred from Mutant Phenotype more info	PubMed
water transport	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
apical part of cell	IDA Inferred from Direct Assay more info	PubMed
apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
basal plasma membrane	IDA Inferred from Direct Assay more info	PubMed
basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
brush border	IDA Inferred from Direct Assay more info	PubMed
brush border membrane	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
nuclear membrane	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info
NOT plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
sarcolemma	IDA Inferred from Direct Assay more info	PubMed
symbiont-containing vacuole	ISS Inferred from Sequence or Structural Similarity more info
colocalizes_with symbiont-containing vacuole membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: aquaporin-1

Names: aquaporin-1; aquaporin-CHIP; Colton blood group; urine water channel; channel-like integral membrane protein, 28-kDa; water channel protein for red blood cells and kidney proximal tubule; aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007475.1 RefSeqGene

Range

4948..18664

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001185060.1 → NP_001171989.1 aquaporin-1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC005155, AK309608

Consensus CDS

CCDS55098.1

UniProtKB/Swiss-Prot

P29972

Related

ENSP00000405698, ENST00000441328

Conserved Domains (1) summary

cd00333
Location:38 – 147
Blast Score: 310

MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
NM_001185061.1 → NP_001171990.1 aquaporin-1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC005155, AK309688

Consensus CDS

CCDS55097.1

UniProtKB/TrEMBL

E7EM69

Conserved Domains (1) summary

cl00200
Location:70 – 176
Blast Score: 383

MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
NM_001185062.1 → NP_001171991.1 aquaporin-1 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC005155, DA712111

Consensus CDS

CCDS55096.1

UniProtKB/TrEMBL

E9PC21

Conserved Domains (1) summary

cl00200
Location:14 – 112
Blast Score: 382

MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
NM_198098.2 → NP_932766.1 aquaporin-1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC005155, DA197236, M77829

Consensus CDS

CCDS5431.1

UniProtKB/Swiss-Prot

P29972

Related

ENSP00000311165, OTTHUMP00000123398, ENST00000311813, OTTHUMT00000215002

Conserved Domains (1) summary

cd00333
Location:12 – 230
Blast Score: 552

MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000007.13 Reference GRCh37.p10 Primary Assembly

Range

30951415..30965131

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

30833637..30847351

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

31000921..31014637

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018918.1 Alternate CHM1_1.0

Range

30929493..30943207

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_000385.3: Suppressed sequence

Description

NM_000385.3: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AACC02000087.1	EAL24446.1
genomic	ABBA01056814.1 (175959..189673)	None
genomic	AC004691.1	AAC16481.1
genomic	AC005155.1	AAC23788.1
genomic	AF480415.1	AAL87136.1
genomic	AMYH01017151.1 (466420..480134)	None
genomic	AY953319.1	AAX24129.1
genomic	CH471073.1	EAW93971.1
		EAW93972.1
mRNA	AB451275.1	BAG70089.1
mRNA	AB451402.1	BAG70216.1
mRNA	AK298091.1	BAG60376.1
mRNA	AK298313.1	BAG60567.1
mRNA	AK300995.1	BAG62614.1
mRNA	AK301351.1	BAG62897.1
mRNA	AK304684.1	BAG65455.1
mRNA	AK309608.1	None
mRNA	AK309688.1	None
mRNA	AK309691.1	None
mRNA	AK312656.1	BAG35539.1
mRNA	AU122128.1	None
mRNA	AY312580.1	AAR16185.1
mRNA	AY312581.1	AAR16186.1
mRNA	BC022486.1	AAH22486.1
mRNA	BC141905.1	None
mRNA	BI837828.1	None
mRNA	DA197236.1	None
mRNA	DA712111.1	None
mRNA	M77829.1	AAA58425.1
mRNA	S73482.1	AAB31193.1
mRNA	U41517.1	AAC50648.1
mRNA	U41518.1	AAC50649.1
other-genetic	DQ892366.2	ABM83292.1
other-genetic	DQ895575.2	ABM86501.1