ENSG00000161798


Homo sapiens

Features
Gene ID: ENSG00000161798
  
Biological name :AQP5
  
Synonyms : AQP5 / aquaporin 5 / P55064
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q13.12
Gene start: 49961870
Gene end: 49965681
  
Corresponding Affymetrix probe sets: 213611_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000293599
NCBI entrez gene - 362     See in Manteia.
OMIM - 600442
RefSeq - NM_001651
RefSeq - XM_005268838
RefSeq Peptide - NP_001642
swissprot - P55064
Ensembl - ENSG00000161798
  
Related genetic diseases (OMIM): 600231 - Palmoplantar keratoderma, Bothnian type, 600231
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
 AQP5ENSGALG00000041878Gallus gallus
 Aqp5ENSMUSG00000044217Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AQP2 / P41181 / aquaporin 2ENSG0000016758065
AQP6 / Q13520 / aquaporin 6ENSG0000008615953
MIP / P30301 / major intrinsic protein of lens fiberENSG0000013551752
AQP4 / P55087 / aquaporin 4ENSG0000017188548
AQP1 / P29972 / aquaporin 1 (Colton blood group)ENSG0000024058345
AC004691.2ENSG0000025042442
AQP8 / O94778 / aquaporin 8ENSG0000010337529


Protein motifs (from Interpro)
Interpro ID Name
 IPR000425  Major intrinsic protein
 IPR022357  Major intrinsic protein, conserved site
 IPR023271  Aquaporin-like
 IPR023276  Aquaporin 5
 IPR034294  Aquaporin transporter


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006833 water transport IEA
 biological_processGO:0007588 excretion TAS
 biological_processGO:0015670 carbon dioxide transport IEA
 biological_processGO:0030157 pancreatic juice secretion IEP
 biological_processGO:0034220 ion transmembrane transport IBA
 biological_processGO:0042476 odontogenesis IEP
 biological_processGO:0046541 saliva secretion IEA
 biological_processGO:0048593 camera-type eye morphogenesis IEA
 biological_processGO:0055085 transmembrane transport IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0005902 microvillus IEA
 cellular_componentGO:0009925 basal plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015250 water channel activity IDA
 molecular_functionGO:0015267 channel activity IEA
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
Passive transport by Aquaporins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000989 Pruritus "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators]
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 HP:0007435 Diffuse palmoplantar keratoderma 
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 HP:0008066 Abnormal blistering of the skin 
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 HP:0010783 Erythema "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson]
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 HP:0200034 skin papules "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point." [HPO:SKOEHLER]
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 HP:0200042 skin ulcer "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000161798 AQP5 / P55064 / aquaporin 5  / complex






 

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