AQP1 Gene (Protein Coding)

Aquaporin 1 (Colton Blood Group)

GC07P030911
GIFtS:
47
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 involving imbalance in ocular fluid movement. [provided by RefSeq, Aug 2016] See more...

Aliases for AQP1 Gene

Aliases for AQP1 Gene

  • Aquaporin 1 (Colton Blood Group) 2 3 5
  • Aquaporin 1 (Channel-Forming Integral Protein, 28kDa, CO Blood Group) 2 3
  • Water Channel Protein For Red Blood Cells And Kidney Proximal Tubule 3 4
  • Urine Water Channel 3 4
  • Aquaporin-CHIP 3 4
  • Aquaporin-1 3 4
  • CHIP28 3 4
  • Aquaporin 1 (Channel-Forming Integral Protein, 28kDa) 2
  • Channel-Like Integral Membrane Protein, 28-KDa 3
  • Aquaporin 1, Colton Blood Group Antigen 3
  • Colton Blood Group 2
  • Aquaporin 1 2
  • AQP-CHIP 3
  • AQP-1 4
  • CO 3

External Ids for AQP1 Gene

Previous HGNC Symbols for AQP1 Gene

  • CO

Previous GeneCards Identifiers for AQP1 Gene

  • GC07P030593
  • GC07P030693
  • GC07P030724
  • GC07P030917
  • GC07P030811
  • GC07P030894

Summaries for AQP1 Gene

Entrez Gene Summary for AQP1 Gene

  • 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 involving imbalance in ocular fluid movement. [provided by RefSeq, Aug 2016]

GeneCards Summary for AQP1 Gene

AQP1 (Aquaporin 1 (Colton Blood Group)) is a Protein Coding gene. Diseases associated with AQP1 include Blood Group, Colton System and Central Pontine Myelinolysis. Among its related pathways are Erythrocytes take up carbon dioxide and release oxygen and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include transporter activity and potassium channel activity. An important paralog of this gene is ENSG00000250424.

UniProtKB/Swiss-Prot Summary for AQP1 Gene

  • Forms a water-specific channel that provides the plasma membranes of red cells and kidney proximal tubules with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient.

Tocris Summary for AQP1 Gene

  • Aquaporins (AQPs) are integral membrane proteins that facilitate the transport of water across biological membranes along an osmotic gradient. There have been 13 AQP isoforms (AQP0-AQP12) identified in humans and rodents to date.

Gene Wiki entry for AQP1 Gene

Additional gene information for AQP1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AQP1 Gene

Genomics for AQP1 Gene

GeneHancer (GH) Regulatory Elements for AQP1 Gene

Promoters and enhancers for AQP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AQP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AQP1 gene promoter:
  • AhR
  • ATF6
  • Max1
  • NF-kappaB
  • NF-kappaB1
  • Sp1
  • STAT3

Genomic Locations for AQP1 Gene

Genomic Locations for AQP1 Gene
chr7:30,911,694-30,925,517
(GRCh38/hg38)
Size:
13,824 bases
Orientation:
Plus strand
chr7:30,893,010-30,965,131
(GRCh37/hg19)
Size:
72,122 bases
Orientation:
Plus strand

Genomic View for AQP1 Gene

Genes around AQP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AQP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AQP1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for AQP1 Gene

Proteins for AQP1 Gene

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  • Protein details for AQP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29972-AQP1_HUMAN
    Recommended name:
    Aquaporin-1
    Protein Accession:
    P29972
    Secondary Accessions:
    • B5BU39
    • E7EM69
    • E9PC21
    • F5GY19
    • Q8TBI5
    • Q8TDC1

    Protein attributes for AQP1 Gene

    Size:
    269 amino acids
    Molecular mass:
    28526 Da
    Quaternary structure:
    • Homotetramer. Interacts with EPHB2; involved in endolymph production in the inner ear (By similarity). Identified in a complex with STOM.
    Miscellaneous:
    • Pharmacologically inhibited by submillimolar concentrations of mercury.

    Three dimensional structures from OCA and Proteopedia for AQP1 Gene

    Alternative splice isoforms for AQP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AQP1 Gene

Protein Expression for AQP1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AQP1 Gene

  • Glycosylation at Asn42 and Asn205
  • Modification sites at PhosphoSitePlus

Other Protein References for AQP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for AQP1 Gene

Domains & Families for AQP1 Gene

Gene Families for AQP1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Blood group antigen proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for AQP1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AQP1 Gene

GenScript: Design optimal peptide antigens:
  • Water channel protein for red blood cells and kidney proximal tubule (AQP1_HUMAN)
  • cDNA FLJ51915, highly similar to Aquaporin-1 (B4DNW4_HUMAN)
  • Aquaporin 1 (B4F4P6_HUMAN)
  • Aquaporin 1 splice variant 3 (Q6JSD7_HUMAN)
  • Aquaporin 1 splice variant 2 (Q6JSD8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P29972

UniProtKB/Swiss-Prot:

AQP1_HUMAN :
  • Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA).
  • Belongs to the MIP/aquaporin (TC 1.A.8) family.
Domain:
  • Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA).
Family:
  • Belongs to the MIP/aquaporin (TC 1.A.8) family.
genes like me logo Genes that share domains with AQP1: view

Function for AQP1 Gene

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Molecular function for AQP1 Gene

UniProtKB/Swiss-Prot Function:
Forms a water-specific channel that provides the plasma membranes of red cells and kidney proximal tubules with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient.
GENATLAS Biochemistry:
aquaporin 1 (28kDa),water channel forming integral protein in red cells in the apical basolateral membranes of renal proximal tubule and descending limbs of Henle's loop,also expressed in ciliary body,lens,corneal epithelium,retinal pigment epithelium (CHIP28),involved in transcellular endothelial fluid transport

Phenotypes From GWAS Catalog for AQP1 Gene

Gene Ontology (GO) - Molecular Function for AQP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005223 intracellular cGMP-activated cation channel activity IDA 14561230
GO:0005267 potassium channel activity IMP 11914159
GO:0005372 water transmembrane transporter activity IDA 7521540
GO:0005515 protein binding IPI 16189514
GO:0008519 ammonium transmembrane transporter activity IDA 19273840
genes like me logo Genes that share ontologies with AQP1: view
genes like me logo Genes that share phenotypes with AQP1: view

Animal Models for AQP1 Gene

MGI Knock Outs for AQP1:
  • Aqp1 Aqp1<tm1Ask>
  • Aqp1 Aqp1<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for AQP1 Gene

miRTarBase miRNAs that target AQP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AQP1 Gene

Localization for AQP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AQP1 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AQP1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AQP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 17645239
GO:0005737 cytoplasm IDA 16814974
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 1722319
GO:0005903 brush border IDA 16133142
genes like me logo Genes that share ontologies with AQP1: view

Pathways & Interactions for AQP1 Gene

genes like me logo Genes that share pathways with AQP1: view

Pathways by source for AQP1 Gene

1 BioSystems pathway for AQP1 Gene
1 Qiagen pathway for AQP1 Gene
  • eNOS Signaling

SIGNOR curated interactions for AQP1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for AQP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003091 renal water homeostasis TAS --
GO:0003097 renal water transport IDA 9096382
GO:0006813 potassium ion transport ISS --
GO:0006833 water transport TAS --
GO:0006884 cell volume homeostasis IMP 11922632
genes like me logo Genes that share ontologies with AQP1: view

Drugs & Compounds for AQP1 Gene

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(30) Drugs for AQP1 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acetazolamide Approved, Vet_approved Pharma Target, inhibitor 110
Water Approved Pharma 0
tetraethylammonium Experimental, Investigational Pharma Inhibitor, Pore Blocker, Antagonist, Inhibition 1
B-nonylglucoside Experimental Pharma Target 0
Mersalyl Experimental Pharma Target 0

(25) Additional Compounds for AQP1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
TC AQP1 1
37710-81-9
TGN 020
51987-99-6

(2) Tocris Compounds for AQP1 Gene

Compound Action Cas Number
TC AQP1 1 Aquaporin 1 (AQP1) channel blocker 37710-81-9
TGN 020 Aquaporin 4 (AQP4) channel blocker 51987-99-6
genes like me logo Genes that share compounds with AQP1: view

Transcripts for AQP1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for AQP1 Gene

(6) REFSEQ mRNAs :
(23) Additional mRNA sequences :
(364) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AQP1 Gene

No ASD Table

Relevant External Links for AQP1 Gene

GeneLoc Exon Structure for
AQP1
ECgene alternative splicing isoforms for
AQP1

Expression for AQP1 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AQP1 Gene

mRNA expression in normal human tissues for AQP1 Gene
mRNA expression by BioGPS for AQP1 GenemRNA expression by GTEx for AQP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AQP1 Gene

This gene is overexpressed in Pancreas (x4.2).

Protein differential expression in normal tissues from HIPED for AQP1 Gene

This gene is overexpressed in Skin (29.8) and Spinal cord (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AQP1 Gene



Protein tissue co-expression partners for AQP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of AQP1 Gene:

AQP1

SOURCE GeneReport for Unigene cluster for AQP1 Gene:

Hs.76152

mRNA Expression by UniProt/SwissProt for AQP1 Gene:

P29972-AQP1_HUMAN
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 liver.

Evidence on tissue expression from TISSUES for AQP1 Gene

  • Kidney(5)
  • Nervous system(5)
  • Eye(4.5)
  • Lung(4.4)
  • Heart(3.9)
  • Blood(3.1)
  • Muscle(2.9)
  • Gall bladder(2.8)
  • Intestine(2.6)
  • Pancreas(2.5)
  • Skin(2.5)
  • Urine(2.1)
  • Liver(2)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with AQP1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AQP1 Gene

Orthologs for AQP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AQP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia AQP1 33 32
  • 99.26 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia -- 33
  • 90 (a)
 OneToMany
dog
(Canis familiaris)
 Mammalia AQP1 33 32
  • 89.22 (n)
 OneToMany
cow
(Bos Taurus)
 Mammalia AQP1 33 32
  • 89.1 (n)
 OneToMany
mouse
(Mus musculus)
 Mammalia Aqp1 17 33 32
  • 88.1 (n)
rat
(Rattus norvegicus)
 Mammalia Aqp1 32
  • 87.86 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 33
  • 71 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves AQP1 33 32
  • 76.33 (n)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 33
  • 83 (a)
 ManyToMany
-- 33
  • 79 (a)
 ManyToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia aqp1 32
  • 73.16 (n)
zebrafish
(Danio rerio)
 Actinopterygii aqp1a.2 33 32
  • 64.15 (n)
 ManyToMany
aqp1a.1 33
  • 60 (a)
 ManyToMany
wufj33g04 32
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP008843 32
  • 55.6 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG7777 34 32
  • 50.48 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes AQY1 35
thale cress
(Arabidopsis thaliana)
 eudicotyledons PIP2E 32
  • 51.02 (n)
Species where no ortholog for AQP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AQP1 Gene

ENSEMBL:
Gene Tree for AQP1 (if available)
TreeFam:
Gene Tree for AQP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AQP1: view image

Paralogs for AQP1 Gene

Paralogs for AQP1 Gene

(7) SIMAP similar genes for AQP1 Gene using alignment to 6 proteins:

  • AQP1_HUMAN
  • B4E220_HUMAN
  • B4F4P6_HUMAN
  • Q6JSD7_HUMAN
  • Q6JSD8_HUMAN
  • Q8TCV1_HUMAN
genes like me logo Genes that share paralogs with AQP1: view

Variants for AQP1 Gene

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Polymorphic Variants from UniProtKB/Swiss-Prot for AQP1 Gene

AQP1_HUMAN-P29972
AQP1 is responsible for the Colton blood group system [MIM:110450]. Approximately 92% of Caucasians are Co(A+B-) (Ala-45), approximately 8% are Co(A+B+), and only 0.2% are Co(A-B+) (Val-45). Co(A-B-) which is very rare, is due to a complete absence of AQP1.

Sequence variations from dbSNP and Humsavar for AQP1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs104894004 pathogenic, COLTON-NULL PHENOTYPE, - 30,912,022(+) C/A/T coding_sequence_variant, missense_variant
rs28362692 benign, COLTON BLOOD GROUP POLYMORPHISM, - 30,912,043(+) C/A/T coding_sequence_variant, missense_variant
rs1000042441 -- 30,916,195(+) G/A intron_variant
rs1000415137 -- 30,913,062(+) T/C intron_variant
rs1000609579 -- 30,914,998(+) A/C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for AQP1 Gene

Variant ID Type Subtype PubMed ID
dgv11254n54 CNV loss 21841781
dgv11255n54 CNV loss 21841781
dgv11256n54 CNV loss 21841781
dgv6316n100 CNV gain 25217958
esv2761316 CNV gain 21179565
nsv1068321 OTHER inversion 25765185
nsv1148830 OTHER inversion 26484159
nsv436557 CNV deletion 17901297
nsv527038 CNV gain 19592680
nsv606510 CNV loss 21841781
nsv606513 CNV loss 21841781
nsv606514 CNV loss 21841781
nsv606520 CNV loss 21841781
nsv606521 CNV loss 21841781
nsv950821 CNV deletion 24416366

Variation tolerance for AQP1 Gene

Residual Variation Intolerance Score: 58.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.05; 92.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AQP1 Gene

Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System
Human Gene Mutation Database (HGMD)
AQP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AQP1

SNP Genotyping and Copy Number Assay Products

Disorders for AQP1 Gene

MalaCards: The human disease database

(28) MalaCards diseases for AQP1 Gene - From: HGMD, OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
blood group, colton system
  • co
central pontine myelinolysis
  • osmotic demyelination syndrome
corneal dystrophy, fuchs endothelial, 1
  • fecd1
hydrarthrosis
brain edema
  • intracranial swelling
- elite association - COSMIC cancer census association via MalaCards
Search AQP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AQP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AQP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AQP1 Gene

Publications for AQP1 Gene

  1. Isolation of the cDNA for erythrocyte integral membrane protein of 28 kilodaltons: member of an ancient channel family. (PMID: 1722319) Preston GM … Agre P (Proceedings of the National Academy of Sciences of the United States of America 1991) 2 3 4 23 56
  2. The three-dimensional structure of aquaporin-1. (PMID: 9177353) Walz T … Engel A (Nature 1997) 3 4 23 56
  3. The water channel gene in human uterus. (PMID: 7517253) Li X … Koide SS (Biochemistry and molecular biology international 1994) 3 4 23 56
  4. The mercury-sensitive residue at cysteine 189 in the CHIP28 water channel. (PMID: 7677994) Preston GM … Agre P (The Journal of biological chemistry 1993) 3 4 23 56
  5. Stomatin interacts with GLUT1/SLC2A1, band 3/SLC4A1, and aquaporin-1 in human erythrocyte membrane domains. (PMID: 23219802) Rungaldier S … Prohaska R (Biochimica et biophysica acta 2013) 3 4 56

ExternalLinks

View latest publications for AQP1 gene in Mastermind

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