ENSG00000240583


Homo sapiens

Features
Gene ID: ENSG00000240583
  
Biological name :AQP1
  
Synonyms : AQP1 / aquaporin 1 (Colton blood group) / P29972
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: 1
Band: p14.3
Gene start: 30911694
Gene end: 30925516
  
Corresponding Affymetrix probe sets: 207542_s_at (Human Genome U133 Plus 2.0 Array)   209047_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000405698
Ensembl peptide - ENSP00000311165
Ensembl peptide - ENSP00000386712
Ensembl peptide - ENSP00000387178
NCBI entrez gene - 358     See in Manteia.
OMIM - 107776
RefSeq - NM_001185061
RefSeq - NM_001185060
RefSeq - NM_001185062
RefSeq - NM_198098
RefSeq Peptide - NP_001171989
RefSeq Peptide - NP_001171990
RefSeq Peptide - NP_001171991
RefSeq Peptide - NP_932766
swissprot - P29972
swissprot - A0A024RA31
Ensembl - ENSG00000240583
  
Related genetic diseases (OMIM): 110450 - [Aquaporin-1 deficiency], 110450
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 aqp1a.1ENSDARG00000023713Danio rerio
 aqp1a.2ENSDARG00000091027Danio rerio
 AQP1ENSGALG00000005209Gallus gallus
 Aqp1ENSMUSG00000004655Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AC004691.2ENSG0000025042493
AQP5 / P55064 / aquaporin 5ENSG0000016179844
AQP4 / P55087 / aquaporin 4ENSG0000017188544
MIP / P30301 / major intrinsic protein of lens fiberENSG0000013551743
AQP2 / P41181 / aquaporin 2ENSG0000016758043
AQP6 / Q13520 / aquaporin 6ENSG0000008615940
AQP8 / O94778 / aquaporin 8ENSG0000010337523


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:0003091 renal water homeostasis TAS
 biological_processGO:0003097 renal water transport IDA
 biological_processGO:0006182 cGMP biosynthetic process IDA
 biological_processGO:0006813 potassium ion transport ISS
 biological_processGO:0006833 water transport IMP
 biological_processGO:0006884 cell volume homeostasis IMP
 biological_processGO:0015670 carbon dioxide transport IDA
 biological_processGO:0015696 ammonium transport IDA
 biological_processGO:0015701 bicarbonate transport TAS
 biological_processGO:0015793 glycerol transport IDA
 biological_processGO:0019725 cellular homeostasis IDA
 biological_processGO:0021670 lateral ventricle development IEP
 biological_processGO:0030157 pancreatic juice secretion IEP
 biological_processGO:0030185 nitric oxide transport IDA
 biological_processGO:0030950 establishment or maintenance of actin cytoskeleton polarity IMP
 biological_processGO:0033326 cerebrospinal fluid secretion IEP
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0034644 cellular response to UV IDA
 biological_processGO:0035377 transepithelial water transport IDA
 biological_processGO:0035378 carbon dioxide transmembrane transport IDA
 biological_processGO:0042476 odontogenesis IEP
 biological_processGO:0042493 response to drug IDA
 biological_processGO:0043066 negative regulation of apoptotic process IDA
 biological_processGO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
 biological_processGO:0045766 positive regulation of angiogenesis IMP
 biological_processGO:0046878 positive regulation of saliva secretion IMP
 biological_processGO:0048146 positive regulation of fibroblast proliferation IDA
 biological_processGO:0050891 multicellular organismal water homeostasis IEP
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0070301 cellular response to hydrogen peroxide IDA
 biological_processGO:0071241 cellular response to inorganic substance IDA
 biological_processGO:0071260 cellular response to mechanical stimulus IDA
 biological_processGO:0071280 cellular response to copper ion IDA
 biological_processGO:0071288 cellular response to mercury ion IDA
 biological_processGO:0071300 cellular response to retinoic acid IDA
 biological_processGO:0071320 cellular response to cAMP IEP
 biological_processGO:0071456 cellular response to hypoxia IDA
 biological_processGO:0071472 cellular response to salt stress IDA
 biological_processGO:0071474 cellular hyperosmotic response IMP
 biological_processGO:0071549 cellular response to dexamethasone stimulus IDA
 biological_processGO:0071732 cellular response to nitric oxide IDA
 biological_processGO:0071805 potassium ion transmembrane transport IEA
 biological_processGO:0072488 ammonium transmembrane transport IEA
 biological_processGO:0085018 maintenance of symbiont-containing vacuole by host IMP
 biological_processGO:0098655 cation transmembrane transport IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0005903 brush border IDA
 cellular_componentGO:0009925 basal plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IDA
 cellular_componentGO:0016324 apical plasma membrane IDA
 cellular_componentGO:0020003 symbiont-containing vacuole ISS
 cellular_componentGO:0020005 symbiont-containing vacuole membrane IDA
 cellular_componentGO:0031526 brush border membrane IDA
 cellular_componentGO:0031965 nuclear membrane IDA
 cellular_componentGO:0042383 sarcolemma IDA
 cellular_componentGO:0045177 apical part of cell IDA
 cellular_componentGO:0070062 extracellular exosome IDA
 molecular_functionGO:0005223 intracellular cGMP activated cation channel activity IDA
 molecular_functionGO:0005267 potassium channel activity IMP
 molecular_functionGO:0005372 water transmembrane transporter activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008519 ammonium transmembrane transporter activity IDA
 molecular_functionGO:0015079 potassium ion transmembrane transporter activity ISS
 molecular_functionGO:0015168 glycerol transmembrane transporter activity IDA
 molecular_functionGO:0015250 water channel activity IMP
 molecular_functionGO:0015267 channel activity IEA
 molecular_functionGO:0022857 transmembrane transporter activity IDA
 molecular_functionGO:0030184 nitric oxide transmembrane transporter activity IDA
 molecular_functionGO:0035379 carbon dioxide transmembrane transporter activity TAS
 molecular_functionGO:0042802 identical protein 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
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000240583 AQP1 / P29972 / aquaporin 1 (Colton blood group)  / complex






 

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