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
External Ids for AQP1 Gene
- HGNC: 633
- Entrez Gene: 358
- Ensembl: ENSG00000240583
- OMIM: 107776
- UniProtKB: P29972
Previous HGNC Symbols for AQP1 Gene
- CO
Previous GeneCards Identifiers for AQP1 Gene
- GC07P030593
- GC07P030693
- GC07P030724
- GC07P030917
- GC07P030811
- GC07P030894
Summaries 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 Central Pontine Myelinolysis and Subependymoma. Among its related pathways are Proximal tubule bicarbonate reclamation and Metabolism. 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 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.
-
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.
Additional gene information for AQP1 Gene
- Monarch Initiative
- Search for AQP1 at DataMed
- Search for AQP1 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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 dump
GeneHancers around AQP1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the AQP1 gene promoter:
Regulatory Element Products
Genomic Locations for AQP1 Gene
Genomic Locations for AQP1 Gene
- chr7:30,911,694-30,925,516
- (GRCh38/hg38)
- Size:
- 13,823 bases
- Orientation:
- Plus strand
- chr7:30,893,010-30,965,131
- (GRCh37/hg19)
Genomic View for AQP1 Gene
Genes around AQP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7p14.3 by Ensembl
- 7p14.3 by Entrez Gene
- 7p14.3 by HGNC
AQP1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for AQP1 Gene
Post-translational modifications for AQP1 Gene
- Glycosylation at Asn42 and posLast=205205
Other Protein References for AQP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for AQP1
-
Abcam antibodies for AQP1
-
Cloud-Clone Corp. Antibodies for AQP1
- Invitrogen Antibodies for AQP1
- antibodies-online: Search results for 170 available Aquaporin 1 Antibodies ranked by validation data
- Compare Top Aquaporin 1 Antibodies
-
Recommended
- 1 IHC (p) Antibody (anti-human)
- 4 IP Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 111 WB Antibodies (anti-human)
- 4 IP Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 86 WB Antibodies (anti-rat)
- 4 IP Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 72 WB Antibodies (anti-mouse)
- GeneTex AQP1 antibody for AQP1
-
Santa Cruz Biotechnology (SCBT) Antibodies for AQP1
- Sino Biological Antibodies for AQP1
Protein Products
-
OriGene Purified Proteins for AQP1
- Search Origene for MassSpec and Protein Over-expression Lysates for AQP1
- Origene Custom Protein Services for AQP1
-
Cloud-Clone Corp. Proteins for AQP1
- Search GeneTex for Proteins for AQP1
-
Abcam proteins for AQP1
Assay Products
-
Cloud-Clone Corp. Assay Kits for AQP1
- antibodies-online: Search results for 47 available Aquaporin 1 Elisa Kits ranked by validation data
- Compare Top Aquaporin 1 Elisa Kits
-
Recommended
- 1 Sheep (Ovine) ELISA Kit
- 4 Rat (Rattus) ELISA Kits
- 3 Rabbit ELISA Kits
- 3 Pig (Porcine) ELISA Kits
- 9 Mouse (Murine) ELISA Kits
- 3 Monkey ELISA Kits
- 1 Mammalian ELISA Kit
- 14 Human ELISA Kits
- 2 Guinea Pig ELISA Kits
- 1 Goat ELISA Kit
- 2 Dog (Canine) ELISA Kits
- 2 Cow (Bovine) ELISA Kits
- 2 Chicken ELISA Kits
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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for AQP1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P29972UniProtKB/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.
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.
Phenotypes From GWAS Catalog 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 |
Phenotypes for AQP1 Gene
- MGI mutant phenotypes for AQP1:
-
inferred from 2 alleles
- nervous system phenotype
- homeostasis/metabolism phenotype
- respiratory system phenotype
- cardiovascular system phenotype
- mortality/aging
- behavior/neurological phenotype
- growth/size/body region phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- hematopoietic system phenotype
- skeleton phenotype
- renal/urinary system phenotype
- GenomeRNAi human phenotypes for AQP1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for AQP1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for AQP1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for AQP1 gene
- Search ViGene Biosciences for AQP1
CRISPR Products
-
OriGene CRISPR knockouts for AQP1
- genomics-online: gRNA clones - Search results for 135 available Aquaporin 1 gene related products
- Overview of 135 available Aquaporin 1 gene related products
-
Recommended
- Applied Biological Materials CRISPR for AQP1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for AQP1
- GenScript: Design CRISPR guide RNA sequences for AQP1
miRNA for AQP1 Gene
- miRTarBase miRNAs that target AQP1
miRNA Products
- Search ViGene Biosciences for AQP1
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for AQP1
- Browse OriGene Inhibitory RNA Products For AQP1
- genomics-online: shRNA clones - Search results for 135 available Aquaporin 1 gene related products
- Overview of 135 available Aquaporin 1 gene related products
-
Recommended
-
ViGene Biosciences ready-to-package AAV shRNAs for AQP1 gene
Clone Products
- Sino Biological Human cDNA Clone for AQP1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for AQP1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AQP1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 135 available Aquaporin 1 gene related products
- Overview of 135 available Aquaporin 1 gene related products
-
Recommended
- orf clones - Search results for 135 available Aquaporin 1 gene related products
- Overview of 135 available Aquaporin 1 gene related products
-
Recommended
- Applied Biological Materials Clones for AQP1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for AQP1 (Aquaporin 1/AQP1)
Cell Line Products
-
Horizon Cell Lines for AQP1
-
ViGene Biosciences adenoviral particle packaged cDNA for AQP1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for AQP1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for AQP1 gene
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| nucleus | 5 |
| cytoskeleton | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| endosome | 1 |
- Plasma membrane (3)
| 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 |
Pathways & Interactions for AQP1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Aquaporin-mediated transport | ||
| 2 | O2/CO2 exchange in erythrocytes | ||
| 3 | Bile secretion | ||
| 4 | Proximal tubule bicarbonate reclamation | ||
| 5 | Renin secretion | ||
Pathways by source for AQP1 Gene
1 BioSystems pathway for AQP1 Gene
3 KEGG pathways for AQP1 Gene
1 Qiagen pathway for AQP1 Gene
Interacting Proteins for AQP1 Gene
Selected Interacting proteins:
P29972-AQP1_HUMAN
ENSP00000311165
for AQP1 Gene via
MINT
STRING
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003091 | renal water homeostasis | TAS | -- |
| GO:0003097 | renal water transport | IDA | 9096382 |
| GO:0006182 | cGMP biosynthetic process | IDA | 14561230 |
| GO:0006810 | transport | IEA | -- |
| GO:0006813 | potassium ion transport | ISS | -- |
Drugs & Compounds for AQP1 Gene
| 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
Transcripts for AQP1 Gene
mRNA/cDNA for AQP1 Gene
- (6) REFSEQ mRNAs :
- (19) Additional mRNA sequences :
- (364) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for AQP1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for AQP1
- genomics-online: gRNA clones - Search results for 135 available Aquaporin 1 gene related products
- Overview of 135 available Aquaporin 1 gene related products
-
Recommended
- Applied Biological Materials CRISPR for AQP1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for AQP1
- GenScript: Design CRISPR guide RNA sequences for AQP1
miRNA Products
- Search ViGene Biosciences for AQP1
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for AQP1
- Browse OriGene Inhibitory RNA Products For AQP1
- genomics-online: shRNA clones - Search results for 135 available Aquaporin 1 gene related products
- Overview of 135 available Aquaporin 1 gene related products
-
Recommended
-
ViGene Biosciences ready-to-package AAV shRNAs for AQP1 gene
Clone Products
- Sino Biological Human cDNA Clone for AQP1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for AQP1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AQP1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 135 available Aquaporin 1 gene related products
- Overview of 135 available Aquaporin 1 gene related products
-
Recommended
- orf clones - Search results for 135 available Aquaporin 1 gene related products
- Overview of 135 available Aquaporin 1 gene related products
-
Recommended
- Applied Biological Materials Clones for AQP1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for AQP1 (Aquaporin 1/AQP1)
Expression for AQP1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Epithelial Cells
- Anterior Lens Epithelial Cells Lens
- Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
- Loop of Henle Cells Loop of Henle
- Mature Choroid Plexus Cells Choroid Plexus
- Proximal Tubule Cells Proximal Tubule
-
Kidney (Urinary System)
- Loop of Henle Cells Loop of Henle
- Proximal Tubule Cells Proximal Tubule
- Adult human kidney epithelial cells
- mK4
- Renal proximal tubularlike cells(Narayanan K et. al. 2013)
-
Eye (Sensory Organs)
- Anterior Lens Epithelial Cells Lens
- Keratocytes Corneal Stroma
- Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
- Keratoblasts Corneal Stroma
- Keratocyte-like cells(Chan AA et. al. 2013)
- NULL (Uncategorized)
-
Brain (Nervous System)
- Mature Choroid Plexus Cells Choroid Plexus
- Choroid Plexus Progenitor Cells Choroid Plexus
- Choroid Plexus
- CPEC(Watanabe M et. al. 2012)
-
Heart (Cardiovascular System)
- Atrioventricular Node Cells Atrioventricular Node
- Atrioventricular Canal Cells Atrioventricular Canal
- Outflow Tract
-
Liver (Hepatobiliary System)
- Periportal Hepatocytes Liver Lobule
- Biliary Epithelial Cells Intrahepatic Biliary Tree
- Bone (Muscoskeletal System)
- Adipose (Muscoskeletal System)
-
Fibroblasts
- Keratocytes Corneal Stroma
- Trophoblast (Extraembryonic Tissues)
-
Spinal Cord (Nervous System)
-
Lung (Respiratory System)
-
Dermis (Integumentary System)
mRNA differential expression in normal tissues according to GTEx for AQP1 Gene
This gene is overexpressed in Pancreas (x4.2).
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
NURSA nuclear receptor signaling pathways regulating expression of AQP1 Gene:
AQP1SOURCE GeneReport for Unigene cluster for AQP1 Gene:
Hs.76152mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for AQP1
-
OriGene qPCR primer pairs and template standards for AQP1
- genomics-online: primer clones - Search results for 135 available Aquaporin 1 gene related products
- Overview of 135 available Aquaporin 1 gene related products
-
Recommended
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | AQP1 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| dog (Canis familiaris) |
Mammalia | AQP1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | AQP1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Aqp1 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Aqp1 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | AQP1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | aqp1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | aqp1a.2 33 34 |
|
||
| aqp1a.1 34 |
|
ManyToMany | |||
| wufj33g04 33 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008843 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG7777 35 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | AQY1 36 |
|
|
|
| thale cress (Arabidopsis thaliana) |
eudicotyledons | PIP2E 33 |
|
- 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)
Paralogs for AQP1 Gene
(7) SIMAP similar genes for AQP1 Gene using alignment to 6 proteins:
Variants for AQP1 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for AQP1 Gene
- AQP1_HUMAN-P29972
- 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.
| SNP ID | Clin | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs104894004 | pathogenic, Aquaporin 1 deficiency, Colton-null | 30,912,022(+) | C/A/T | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant | |
| rs28362692 | benign, COLTON BLOOD GROUP POLYMORPHISM | 30,912,043(+) | C/T | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant | |
| rs1000042441 | -- | 30,916,195(+) | G/A | genic_upstream_transcript_variant, intron_variant | |
| rs1000415137 | -- | 30,913,062(+) | T/C | genic_upstream_transcript_variant, intron_variant | |
| rs1000609579 | -- | 30,914,998(+) | A/G | genic_upstream_transcript_variant, intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv950821 | CNV | deletion | 24416366 |
| nsv606521 | CNV | loss | 21841781 |
| nsv606520 | CNV | loss | 21841781 |
| nsv606514 | CNV | loss | 21841781 |
| nsv606513 | CNV | loss | 21841781 |
| nsv606510 | CNV | loss | 21841781 |
| nsv527038 | CNV | gain | 19592680 |
| nsv436557 | CNV | deletion | 17901297 |
| nsv1148830 | OTHER | inversion | 26484159 |
| nsv1068321 | OTHER | inversion | 25765185 |
| esv2761316 | CNV | gain | 21179565 |
| dgv6316n100 | CNV | gain | 25217958 |
| dgv11256n54 | CNV | loss | 21841781 |
| dgv11255n54 | CNV | loss | 21841781 |
| dgv11254n54 | CNV | loss | 21841781 |
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
- Human Gene Mutation Database (HGMD)
- AQP1
- Blood Group Antigen Gene Mutation Database (BGMUT)
- Blood Group System
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- AQP1
Disorders for AQP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| central pontine myelinolysis |
|
|
| subependymoma |
|
|
| motion sickness |
|
|
| hydrarthrosis |
|
|
| fibrogenesis imperfecta ossium |
|
|
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
No data available for UniProtKB/Swiss-Prot and Genatlas for AQP1 Gene
Publications for AQP1 Gene
- 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 22 58
- The three-dimensional structure of aquaporin-1. (PMID: 9177353) Walz T … Engel A (Nature 1997) 3 4 22 58
- The water channel gene in human uterus. (PMID: 7517253) Li X … Koide SS (Biochemistry and molecular biology international 1994) 3 4 22 58
- 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 22 58
- 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 58
Products for AQP1 Gene
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- genomics-online: cdna clones - Search results for 135 available Aquaporin 1 gene related products
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Sources for AQP1 Gene
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