Human Gene AQP1 (ENST00000409899.5) from GENCODE V44
Description: 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. (from UniProt P29972) RefSeq Summary (NM_198098): 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]. Gencode Transcript: ENST00000409899.5 Gencode Gene: ENSG00000240583.14 Transcript (Including UTRs) Position: hg38 chr7:30,921,434-30,924,021 Size: 2,588 Total Exon Count: 4 Strand: + Coding Region Position: hg38 chr7:30,921,586-30,923,629 Size: 2,044 Coding Exon Count: 4
ID:AQP1_HUMAN DESCRIPTION: RecName: Full=Aquaporin-1; Short=AQP-1; AltName: Full=Aquaporin-CHIP; AltName: Full=Urine water channel; AltName: Full=Water channel protein for red blood cells and kidney proximal tubule; 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. SUBUNIT: Homotetramer. Interacts with EPHB2; involved in endolymph production in the inner ear (By similarity). INTERACTION: Q99750:MDFI; NbExp=4; IntAct=EBI-745213, EBI-724076; SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: 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. 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). POLYMORPHISM: 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. MISCELLANEOUS: Pharmacologically inhibited by submillimolar concentrations of mercury. SIMILARITY: Belongs to the MIP/aquaporin (TC 1.A.8) family. WEB RESOURCE: Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=colton"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/aqp1/"; WEB RESOURCE: Name=Protein Spotlight; Note=Liquid states - Issue 36 of July 2003; URL="http://web.expasy.org/spotlight/back_issues/sptlt036.shtml";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P29972
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0003091 renal water homeostasis GO:0003097 renal water transport GO:0006182 cGMP biosynthetic process GO:0006813 potassium ion transport GO:0006833 water transport GO:0006884 cell volume homeostasis GO:0015670 carbon dioxide transport GO:0015696 ammonium transport GO:0015701 bicarbonate transport GO:0015793 glycerol transport GO:0019725 cellular homeostasis GO:0021670 lateral ventricle development GO:0030157 pancreatic juice secretion GO:0030185 nitric oxide transport GO:0030950 establishment or maintenance of actin cytoskeleton polarity GO:0033326 cerebrospinal fluid secretion GO:0034220 ion transmembrane transport GO:0034644 cellular response to UV GO:0035377 transepithelial water transport GO:0035378 carbon dioxide transmembrane transport GO:0042476 odontogenesis GO:0042493 response to drug GO:0043066 negative regulation of apoptotic process GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0045766 positive regulation of angiogenesis GO:0046878 positive regulation of saliva secretion GO:0048146 positive regulation of fibroblast proliferation GO:0050891 multicellular organismal water homeostasis GO:0055085 transmembrane transport GO:0070301 cellular response to hydrogen peroxide GO:0071241 cellular response to inorganic substance GO:0071260 cellular response to mechanical stimulus GO:0071280 cellular response to copper ion GO:0071288 cellular response to mercury ion GO:0071300 cellular response to retinoic acid GO:0071320 cellular response to cAMP GO:0071456 cellular response to hypoxia GO:0071472 cellular response to salt stress GO:0071474 cellular hyperosmotic response GO:0071549 cellular response to dexamethasone stimulus GO:0071732 cellular response to nitric oxide GO:0071805 potassium ion transmembrane transport GO:0072488 ammonium transmembrane transport GO:0085018 maintenance of symbiont-containing vacuole by host GO:0098655 cation transmembrane transport
AK304075 - Homo sapiens cDNA FLJ51453 complete cds, highly similar to Aquaporin-1. AK312656 - Homo sapiens cDNA, FLJ93046, highly similar to Homo sapiens aquaporin 1 (channel-forming integral protein, 28kDa) (AQP1), mRNA. AK304684 - Homo sapiens cDNA FLJ53773 complete cds, highly similar to Aquaporin-1. AK298313 - Homo sapiens cDNA FLJ50602 complete cds, highly similar to Aquaporin-1. AK300995 - Homo sapiens cDNA FLJ53022 complete cds, highly similar to Aquaporin-1. AK298091 - Homo sapiens cDNA FLJ51915 complete cds, highly similar to Aquaporin-1. AK301351 - Homo sapiens cDNA FLJ50708 complete cds, highly similar to Aquaporin-1. BC022486 - Homo sapiens aquaporin 1 (Colton blood group), mRNA (cDNA clone MGC:26324 IMAGE:4799283), complete cds. M77829 - Human channel-like integral membrane protein (CHIP28) mRNA, complete cds. S73482 - uterine water channel=28 kda erythrocyte integral membrane protein homolog [human, uterus, mRNA, 1340 nt]. U41517 - Human channel-like integral membrane protein (AQP-1) mRNA, clone AQP-1-1656, complete cds. DQ895575 - Synthetic construct Homo sapiens clone IMAGE:100010035; FLH185616.01L; RZPDo839D02147D aquaporin 1 (Colton blood group) (AQP1) gene, encodes complete protein. DQ892366 - Synthetic construct clone IMAGE:100004996; FLH185620.01X; RZPDo839D02148D aquaporin 1 (Colton blood group) (AQP1) gene, encodes complete protein. CU692648 - Synthetic construct Homo sapiens gateway clone IMAGE:100016937 5' read AQP1 mRNA. KJ896447 - Synthetic construct Homo sapiens clone ccsbBroadEn_05841 AQP1 gene, encodes complete protein. KR709456 - Synthetic construct Homo sapiens clone CCSBHm_00002398 AQP1 (AQP1) mRNA, encodes complete protein. KR709457 - Synthetic construct Homo sapiens clone CCSBHm_00002400 AQP1 (AQP1) mRNA, encodes complete protein. KR709458 - Synthetic construct Homo sapiens clone CCSBHm_00002401 AQP1 (AQP1) mRNA, encodes complete protein. AB463415 - Synthetic construct DNA, clone: pF1KB3506, Homo sapiens AQP1 gene for aquaporin 1, without stop codon, in Flexi system. AB451402 - Homo sapiens AQP1 mRNA for aquaporin 1, partial cds, clone: FLJ08105AAAF. AB451275 - Homo sapiens AQP1 mRNA for aquaporin 1, complete cds, clone: FLJ08105AAAN. U41518 - Human channel-like integral membrane protein (AQP-1) mRNA, clone AQP-1-2344, partial cds. AK309608 - Homo sapiens cDNA, FLJ99649. AK309691 - Homo sapiens cDNA, FLJ99732. AK309688 - Homo sapiens cDNA, FLJ99729. AY312580 - Homo sapiens aquaporin 1 splice variant 2 (AQP1) mRNA, partial cds, alternatively spliced. AY312581 - Homo sapiens aquaporin 1 splice variant 3 (AQP1) mRNA, partial cds, alternatively spliced. JD475221 - Sequence 456245 from Patent EP1572962. JD453435 - Sequence 434459 from Patent EP1572962. JD379570 - Sequence 360594 from Patent EP1572962. JD510583 - Sequence 491607 from Patent EP1572962. JD428652 - Sequence 409676 from Patent EP1572962. JD541468 - Sequence 522492 from Patent EP1572962. JD365382 - Sequence 346406 from Patent EP1572962. JD348738 - Sequence 329762 from Patent EP1572962. JD488615 - Sequence 469639 from Patent EP1572962. JD320728 - Sequence 301752 from Patent EP1572962. JD173981 - Sequence 155005 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04964 - Proximal tubule bicarbonate reclamation
Reactome (by CSHL, EBI, and GO)
Protein P29972 (Reactome details) participates in the following event(s):
R-HSA-432010 Aquaporin-1 passively transports water into cell R-HSA-432054 Aquaporin-1 passively transports water out of cell R-HSA-1237042 AQP1 passively tranlocates carbon dioxide from the extracellular region to the cytosol R-HSA-1247649 AQP1 passively translocates carbon dioxide from the cytosol to the extracellular region R-HSA-507868 Aquaporins passively transport water into cells R-HSA-507870 Aquaporins passively transport water out of cells R-HSA-432040 Vasopressin regulates renal water homeostasis via Aquaporins R-HSA-1237044 Erythrocytes take up carbon dioxide and release oxygen R-HSA-1247673 Erythrocytes take up oxygen and release carbon dioxide R-HSA-432047 Passive transport by Aquaporins R-HSA-445717 Aquaporin-mediated transport R-HSA-1480926 O2/CO2 exchange in erythrocytes R-HSA-382551 Transport of small molecules
US Server
