ENSMUSG00000004655


Mus musculus

Features
Gene ID: ENSMUSG00000004655
  
Biological name :Aqp1
  
Synonyms : Aqp1 / Aquaporin-1 / Q02013
  
Possible biological names infered from orthology : AC004691.2 / aquaporin 1 (Colton blood group) / P29972
  
Species: Mus musculus
  
Chr. number: 6
Strand: 1
Band: B3
Gene start: 55336432
Gene end: 55348555
  
Corresponding Affymetrix probe sets: 10538459 (MoGene1.0st)   1416203_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000004774
NCBI entrez gene - 11826     See in Manteia.
MGI - MGI:103201
RefSeq - NM_007472
RefSeq Peptide - NP_031498
swissprot - Q02013
Ensembl - ENSMUSG00000004655
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 aqp1a.1ENSDARG00000023713Danio rerio
 aqp1a.2ENSDARG00000091027Danio rerio
 AQP1ENSGALG00000005209Gallus gallus
 AC004691.2ENSG00000250424Homo sapiens
 AQP1ENSG00000240583Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Mip / P51180 / Lens fiber major intrinsic protein / P30301* / major intrinsic protein of lens fiber*ENSMUSG0000002538945
Aqp4 / aquaporin-4 isoform M1x / P55087* / aquaporin 4*ENSMUSG0000002441144
Aqp5 / Q9WTY4 / Aquaporin-5 / P55064*ENSMUSG0000004421743
Aqp2 / P56402 / Aquaporin-2 / P41181*ENSMUSG0000002301342
Aqp6 / Q8C4A0 / Aquaporin-6 / Q13520*ENSMUSG0000004314438
Aqp8 / P56404 / Aquaporin-8 / O94778*ENSMUSG0000003076223


Protein motifs (from Interpro)
Interpro ID Name
 IPR000425  Major intrinsic protein
 IPR022357  Major intrinsic protein, conserved site
 IPR023271  Aquaporin-like
 IPR023274  Aquaporin 1
 IPR034294  Aquaporin transporter


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003094 glomerular filtration IMP
 biological_processGO:0003097 renal water transport ISO
 biological_processGO:0006182 cGMP biosynthetic process ISO
 biological_processGO:0006813 potassium ion transport IDA
 biological_processGO:0006833 water transport IEA
 biological_processGO:0006884 cell volume homeostasis ISS
 biological_processGO:0006972 hyperosmotic response IEA
 biological_processGO:0009725 response to hormone IEA
 biological_processGO:0010592 positive regulation of lamellipodium assembly IEA
 biological_processGO:0010634 positive regulation of epithelial cell migration IEA
 biological_processGO:0015670 carbon dioxide transport ISS
 biological_processGO:0015696 ammonium transport ISO
 biological_processGO:0015793 glycerol transport IEA
 biological_processGO:0019233 sensory perception of pain IMP
 biological_processGO:0019725 cellular homeostasis ISO
 biological_processGO:0021670 lateral ventricle development IEA
 biological_processGO:0030104 water homeostasis IMP
 biological_processGO:0030185 nitric oxide transport ISS
 biological_processGO:0030335 positive regulation of cell migration IMP
 biological_processGO:0030950 establishment or maintenance of actin cytoskeleton polarity ISS
 biological_processGO:0032940 secretion by cell IMP
 biological_processGO:0033363 secretory granule organization IMP
 biological_processGO:0034644 cellular response to UV ISO
 biological_processGO:0035377 transepithelial water transport ISO
 biological_processGO:0035378 carbon dioxide transmembrane transport ISO
 biological_processGO:0042060 wound healing IMP
 biological_processGO:0042493 response to drug ISS
 biological_processGO:0042538 hyperosmotic salinity response IEA
 biological_processGO:0043066 negative regulation of apoptotic process ISS
 biological_processGO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process ISO
 biological_processGO:0043627 response to estrogen IEA
 biological_processGO:0044241 lipid digestion IMP
 biological_processGO:0045766 positive regulation of angiogenesis ISS
 biological_processGO:0046878 positive regulation of saliva secretion ISO
 biological_processGO:0048146 positive regulation of fibroblast proliferation ISS
 biological_processGO:0048593 camera-type eye morphogenesis IMP
 biological_processGO:0051458 corticotropin secretion IMP
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0070295 renal water absorption IMP
 biological_processGO:0070301 cellular response to hydrogen peroxide ISO
 biological_processGO:0071241 cellular response to inorganic substance ISO
 biological_processGO:0071260 cellular response to mechanical stimulus ISS
 biological_processGO:0071280 cellular response to copper ion ISS
 biological_processGO:0071288 cellular response to mercury ion ISS
 biological_processGO:0071300 cellular response to retinoic acid ISO
 biological_processGO:0071320 cellular response to cAMP ISS
 biological_processGO:0071456 cellular response to hypoxia ISS
 biological_processGO:0071472 cellular response to salt stress ISO
 biological_processGO:0071474 cellular hyperosmotic response ISS
 biological_processGO:0071549 cellular response to dexamethasone stimulus ISS
 biological_processGO:0071732 cellular response to nitric oxide ISO
 biological_processGO:0071805 potassium ion transmembrane transport IEA
 biological_processGO:0072220 metanephric descending thin limb development IEP
 biological_processGO:0072230 metanephric proximal straight tubule development IEP
 biological_processGO:0072232 metanephric proximal convoluted tubule segment 2 development IEP
 biological_processGO:0072239 metanephric glomerulus vasculature development IEP
 biological_processGO:0072488 ammonium transmembrane transport IBA
 biological_processGO:0085018 maintenance of symbiont-containing vacuole by host IMP
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0005901 caveola IDA
 cellular_componentGO:0005903 brush border IEA
 cellular_componentGO:0009925 basal plasma membrane IDA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0016021 integral component of membrane IDA
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0020003 symbiont-containing vacuole IDA
 cellular_componentGO:0020005 symbiont-containing vacuole membrane ISO
 cellular_componentGO:0030424 axon IDA
 cellular_componentGO:0031526 brush border membrane ISO
 cellular_componentGO:0031965 nuclear membrane ISS
 cellular_componentGO:0032127 dense core granule membrane ISO
 cellular_componentGO:0032809 neuronal cell body membrane IEA
 cellular_componentGO:0042383 sarcolemma ISS
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0043679 axon terminus IEA
 cellular_componentGO:0045177 apical part of cell ISO
 cellular_componentGO:0070062 extracellular exosome ISO
 molecular_functionGO:0005223 intracellular cGMP activated cation channel activity ISO
 molecular_functionGO:0005267 potassium channel activity ISO
 molecular_functionGO:0005372 water transmembrane transporter activity ISO
 molecular_functionGO:0008519 ammonium transmembrane transporter activity ISO
 molecular_functionGO:0015079 potassium ion transmembrane transporter activity IDA
 molecular_functionGO:0015168 glycerol transmembrane transporter activity IEA
 molecular_functionGO:0015250 water channel activity IEA
 molecular_functionGO:0015267 channel activity IEA
 molecular_functionGO:0022857 transmembrane transporter activity ISO
 molecular_functionGO:0030184 nitric oxide transmembrane transporter activity ISO
 molecular_functionGO:0035379 carbon dioxide transmembrane transporter activity ISO
 molecular_functionGO:0042802 identical protein binding ISO
 molecular_functionGO:0046875 ephrin receptor binding IPI


Pathways (from Reactome)
Pathway description
Erythrocytes take up carbon dioxide and release oxygen
Erythrocytes take up oxygen and release carbon dioxide
Vasopressin regulates renal water homeostasis via Aquaporins
Passive transport by Aquaporins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000226 abnormal mean corpuscular volume "deviation from the norm for the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Tiam1tm1Jgc/Tiam1+
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Apoetm1Lmh/Apoe+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
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Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask,Aqp7tm1.1Suc/Aqp7tm1.1Suc
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
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Allelic Composition: Apptm1b(KOMP)Wtsi/Apptm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Apptm1b(KOMP)Wtsi/Ics

 MP:0001429 dehydration "excessive water loss from the body or from an organ or bodily part" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:50053]
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Allelic Composition: Apoetm1Lmh/Apoe+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Apoetm1Lmh/Apoe+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask,Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J

Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask
Genetic Background: involves: C57BL/6J * CD-1

Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask,Aqp4tm1Ask/Aqp4tm1Ask
Genetic Background: involves: C57BL/6J * CD-1

 MP:0001759 increased urine glucose level "a greater level of excretion of glucose in the urine compared to the normal state" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask,Aqp7tm1.1Suc/Aqp7tm1.1Suc
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0001762 polyuria "increased volume of urine produced and excreted" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask,Aqp7tm1.1Suc/Aqp7tm1.1Suc
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0002133 abnormal respiratory system physiology "anomalous function of the pulmonary system; inability or reduced ability to intake and exchange oxygen and carbon dioxide with the environment" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Aqp4tm1Ask/Aqp4tm1Ask
Genetic Background: B6.Cg-Aqp4tm1Ask

Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask,Aqp5tm1Ask/Aqp5tm1Ask
Genetic Background: involves: C57BL/6J * CD-1

Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask,Aqp4tm1Ask/Aqp4tm1Ask
Genetic Background: involves: C57BL/6J * CD-1

 MP:0002136 abnormal kidney physiology "altered ability or inability to excrete urine, not due to anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Chuktm1Ver/Chuktm1Ver
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0002593 high mean erythrocyte count "greater than average numbers of red blood cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask,Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J

 MP:0002608 increased hematocrit "greater than average percentage of a volume of a blood sample occupied by red blood cells" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask,Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J

 MP:0002968 increased circulating alkaline phosphatase level "elevated activity of this enzyme, which hydrolyzes orthophosphoric monoesters, found in the blood" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Apptm1b(KOMP)Wtsi/Apptm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Apptm1b(KOMP)Wtsi/Ics

 MP:0002988 decreased urine osmolarity "reduction in the concentration of ions in the urine compared to normal" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:83000]
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Allelic Composition: Apoetm1Lmh/Apoe+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask,Aqp7tm1.1Suc/Aqp7tm1.1Suc
Genetic Background: involves: 129S2/SvPas * C57BL/6J

Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask,Aqp8tm1Ask/Aqp8tm1Ask
Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

 MP:0003071 decreased vascular permeability "reduced or slower ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask
Genetic Background: involves: C57BL/6J * CD-1

Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask,Aqp4tm1Ask/Aqp4tm1Ask
Genetic Background: involves: C57BL/6J * CD-1

 MP:0004215 abnormal myocardial fiber physiology "anomaly in the function of the multinucleated muscle cells of the heart" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask
Genetic Background: involves: C57BL/6J * CD-1

 MP:0004924 abnormal behavior "anomalies in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Apptm1b(KOMP)Wtsi/Apptm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Apptm1b(KOMP)Wtsi/Ics

 MP:0005202 lethargy "mild impairment of consciousness resulting in reduced alertness and awareness; ultimately due to generalized brain dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Apoetm1Lmh/Apoe+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0005293 impaired glucose tolerance "less than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin resistance; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Apptm1b(KOMP)Wtsi/Apptm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Apptm1b(KOMP)Wtsi/Ics

 MP:0005568 increased circulating total protein level "greater than the average total concentration of these macromolecules in the blood " [RGD:Rat Genome Database submission]
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Allelic Composition: Apptm1b(KOMP)Wtsi/Apptm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Apptm1b(KOMP)Wtsi/Ics

 MP:0006317 decreased urine sodium level "lower than normal concentration of sodium in the urine" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Apoetm1Lmh/Apoe+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0006423 dilated rete testis "an expansion in the volume or area of the network of canals located at the termination of the straight tubules in the mediastinum testis, usually with an increase in contained fluid" [J:121125, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask
Genetic Background: involves: C57BL/6J * CD-1

 MP:0008997 increased blood osmolality "increase in the concentration of ions in the blood compared to the normal state" [MGI:hdene "Howard Dene, Mouse Genome Informatics Curator"]
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Allelic Composition: Apoetm1Lmh/Apoe+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
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Allelic Composition: Apptm1b(KOMP)Wtsi/Apptm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Apptm1b(KOMP)Wtsi/Ics

 MP:0010124 decreased bone mineral content "reduction in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Apptm1b(KOMP)Wtsi/Apptm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Apptm1b(KOMP)Wtsi/Ics

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask,Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Apoetm1Lmh/Apoe+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0011443 abnormal renal water transport "any anomaly in the directed movement of water (H2O) by the kidney" [GO:0003097]
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Allelic Composition: Apoetm1Lmh/Apoe+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000004655 Aqp1 / Q02013 / Aquaporin-1 / P29972* / AC004691.2* / aquaporin 1 (Colton blood group)*  / complex






 

1 s.

 
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