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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
  • 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

  • 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]

GeneCards Summary for AQP1 Gene

AQP1 (Aquaporin 1 (Colton Blood Group)) is a Protein Coding gene. Diseases associated with AQP1 include central pontine myelinolysis and acoustic neuroma. Among its related pathways are Metabolism and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include transporter activity and potassium channel activity. An important paralog of this gene is MIP.

UniProtKB/Swiss-Prot 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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AQP1 Gene

Genomics for AQP1 Gene

Regulatory Elements for AQP1 Gene

Promoters for AQP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AQP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AQP1 Gene

Chromosome:
7
Start:
30,911,800 bp from pter
End:
30,925,516 bp from pter
Size:
13,717 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 StructureGene Density

RefSeq DNA sequence for AQP1 Gene

Proteins for AQP1 Gene

  • 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

Proteomics data for AQP1 Gene at MOPED

Post-translational modifications for AQP1 Gene

  • Glycosylation at Asn 42 and Asn 205
  • Modification sites at PhosphoSitePlus

Other Protein References for AQP1 Gene

Antibody Products

No data available for DME Specific Peptides for AQP1 Gene

Domains & Families for AQP1 Gene

Gene Families for AQP1 Gene

Protein Domains for AQP1 Gene

InterPro:
Blocks:
ProtoNet:

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

Molecular function for AQP1 Gene

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 Henles loop,also expressed in ciliary body,lens,corneal epithelium,retinal pigment epithelium (CHIP28),involved in transcellular endothelial fluid transport
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.
genes like me logo Genes that share phenotypes with AQP1: view

Animal Models for AQP1 Gene

MGI Knock Outs for AQP1:

Animal Model Products

miRNA for AQP1 Gene

miRTarBase miRNAs that target AQP1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for AQP1 Gene COMPARTMENTS Subcellular localization image for AQP1 gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 5
cytoskeleton 2
cytosol 1
endoplasmic reticulum 1
endosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for AQP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009925 basal plasma membrane IDA 17409744
GO:0016020 membrane IEA --
GO:0016324 apical plasma membrane IDA 9013443
GO:0070062 extracellular exosome IDA 15326289
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

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:0006810 transport IEA --
GO:0006813 potassium ion transport ISS --
GO:0006833 water transport TAS --
genes like me logo Genes that share ontologies with AQP1: view

Drugs & Compounds for AQP1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acetazolamide Approved Pharma Target, inhibitor 67
tetraethylammonium Experimental Pharma Inhibitor 1
cgmp Pharma Activator 0
Ag<sup>+</sup> Pharma Inhibitor 0
Hg<sup>2+</sup> Pharma Inhibitor 0

(28) Additional Compounds for AQP1 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
TC AQP1 1
37710-81-9

(1) Tocris Compounds for AQP1 Gene

Compound Action Cas Number
TC AQP1 1 Aquaporin 1 (AQP1) channel blocker 37710-81-9
genes like me logo Genes that share compounds with AQP1: view

Transcripts for AQP1 Gene

Unigene Clusters for AQP1 Gene

Aquaporin 1 (Colton blood group):
Representative Sequences:

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

mRNA expression in normal human tissues 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, PaxDb, and MOPED for AQP1 Gene



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.
genes like me logo Genes that share expression patterns with AQP1: view

Protein tissue co-expression partners for AQP1 Gene

Primer Products

In Situ Assay Products

Orthologs for AQP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AQP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AQP1 35
  • 89.1 (n)
  • 92.19 (a)
AQP1 36
  • 92 (a)
OneToMany
dog
(Canis familiaris)
Mammalia AQP1 35
  • 89.22 (n)
  • 93.68 (a)
AQP1 36
  • 93 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Aqp1 35
  • 88.1 (n)
  • 94.05 (a)
Aqp1 16
Aqp1 36
  • 94 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia AQP1 35
  • 99.26 (n)
  • 99.26 (a)
AQP1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aqp1 35
  • 87.86 (n)
  • 93.31 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 90 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 71 (a)
OneToMany
chicken
(Gallus gallus)
Aves AQP1 35
  • 76.33 (n)
  • 85.87 (a)
AQP1 36
  • 86 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 79 (a)
ManyToMany
-- 36
  • 83 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia aqp1 35
  • 73.16 (n)
  • 77.15 (a)
zebrafish
(Danio rerio)
Actinopterygii aqp1a.2 35
  • 64.15 (n)
  • 62.61 (a)
wufj33g04 35
aqp1a.1 36
  • 60 (a)
ManyToMany
aqp1a.2 36
  • 56 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7777 37
  • 37 (a)
CG7777 35
  • 50.48 (n)
  • 40.74 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008843 35
  • 55.6 (n)
  • 45.64 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AQY1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons PIP2E 35
  • 51.02 (n)
  • 46.93 (a)
Species with no ortholog for AQP1:
  • 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)

Paralogs for AQP1 Gene

Paralogs for AQP1 Gene

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

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

Variants for AQP1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for AQP1 Gene

P29972-AQP1_HUMAN
AQP1 is responsible for the Colton blood group system. Approximately 92% of Caucasians are Co(A+B-) (Ala-46), approximately 8% are Co(A+B+), and only 0.2% are Co(A-B+) (Val-46). 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 Sequence Context AA Info Type
rs28362692 - 30,912,043(+) GACGG(C/T)GGTCC reference, missense
VAR_013279 -
rs28362731 - 30,922,175(+) CCTTG(A/G)TGGCT reference, missense
rs13600 -- 30,925,268(+) CTGTC(C/T)CTGGC utr-variant-3-prime
rs765839 -- 30,919,949(-) CCTTC(A/C/G)TGACT intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv436557 CNV Deletion 17901297
nsv527038 CNV Gain 19592680
nsv887901 CNV Loss 21882294
dgv7241n71 CNV Gain 21882294
dgv7242n71 CNV Gain 21882294
nsv887906 CNV Gain+Loss 21882294
dgv7243n71 CNV Gain 21882294
nsv887908 CNV Loss 21882294
nsv887911 CNV Loss 21882294

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)

Relevant External Links for AQP1 Gene

HapMap Linkage Disequilibrium report
AQP1
Human Gene Mutation Database (HGMD)
AQP1
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System

Disorders for AQP1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
central pontine myelinolysis
  • central pontine myelinosis
acoustic neuroma
  • vestibular neurilemmoma
brain edema
  • intracranial swelling
subependymoma
  • subependymal glioma
motion sickness
  • motion sickness nos
- elite association - COSMIC cancer census association via MalaCards
Search AQP1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for AQP1

Genetic Association Database (GAD)
AQP1
Human Genome Epidemiology (HuGE) Navigator
AQP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AQP1
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 G.M. … Agre P. (Proc. Natl. Acad. Sci. U.S.A. 1991) 2 3 4 23 67
  2. Effects of acetazolamide and anordiol on osmotic water permeability in AQP1-cRNA injected Xenopus oocyte. (PMID: 14704128) Ma B. … Li X.J. (Acta Pharmacol. Sin. 2004) 23 25 26
  3. Aquaporin 1 (AQP1) expression is a novel characteristic feature of a particularly aggressive subgroup of basal-like breast carcinomas. (PMID: 19306058) Otterbach F. … Bankfalvi A. (Breast Cancer Res. Treat. 2010) 3 23
  4. Expression of aquaporin 1 (AQP1) in human synovitis. (PMID: 20149606) Mobasheri A. … Shakibaei M. (Ann. Anat. 2010) 3 23
  5. Role of aquaporin-1 in trabecular meshwork cell homeostasis during mechanical strain. (PMID: 19268465) Baetz N.W. … Stamer W.D. (Exp. Eye Res. 2009) 3 23

Products for AQP1 Gene

Sources for AQP1 Gene

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