Human Gene AQP5 (ENST00000293599.7_4) from GENCODE V47lift37
  Description: aquaporin 5 (from RefSeq NM_001651.4)
Gencode Transcript: ENST00000293599.7_4
Gencode Gene: ENSG00000161798.7_7
Transcript (Including UTRs)
   Position: hg19 chr12:50,355,655-50,359,465 Size: 3,811 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr12:50,355,801-50,358,960 Size: 3,160 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:50,355,655-50,359,465)mRNA (may differ from genome)Protein (265 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AQP5_HUMAN
DESCRIPTION: RecName: Full=Aquaporin-5; Short=AQP-5;
FUNCTION: Forms a water-specific channel. Implicated in the generation of saliva, tears, and pulmonary secretions.
INTERACTION: Q99750:MDFI; NbExp=3; IntAct=EBI-746103, EBI-724076;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
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).
SIMILARITY: Belongs to the MIP/aquaporin (TC 1.A.8) family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: AQP5
Diseases sorted by gene-association score: palmoplantar keratoderma, bothnian type* (1550), diffuse palmoplantar keratoderma, bothnian type* (400), dry eye syndrome (30), zika fever (16), meniere's disease (12), diffuse pulmonary fibrosis (11), aplasia of lacrimal and salivary glands (9), dacryoadenitis (9), mikulicz disease (7), salivary gland disease (7), excessive tearing (6), palmoplantar keratoderma, nonepidermolytic (6), sialadenitis (5), lacrimal apparatus disease (4), peripheral vertigo (4), vestibular disease (4), congenital diaphragmatic hernia (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 241.48 RPKM in Testis
Total median expression: 490.37 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -68.60146-0.470 Picture PostScript Text
3' UTR -213.10505-0.422 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR023271 - Aquaporin-like
IPR023276 - Aquaporin_5
IPR000425 - MIP
IPR022357 - MIP_CS

Pfam Domains:
PF00230 - Major intrinsic protein

SCOP Domains:
81338 - Aquaporin-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3D9S - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P55064
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0015250 water channel activity
GO:0015267 channel activity
GO:0042802 identical protein binding

Biological Process:
GO:0006833 water transport
GO:0007588 excretion
GO:0015670 carbon dioxide transport
GO:0030157 pancreatic juice secretion
GO:0034220 ion transmembrane transport
GO:0042476 odontogenesis
GO:0046541 saliva secretion
GO:0048593 camera-type eye morphogenesis
GO:0055085 transmembrane transport

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005902 microvillus
GO:0009925 basal plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LF212642 - JP 2014500723-A/20145: Polycomb-Associated Non-Coding RNAs.
JD107224 - Sequence 88248 from Patent EP1572962.
JD406019 - Sequence 387043 from Patent EP1572962.
BC032946 - Homo sapiens aquaporin 5, mRNA (cDNA clone MGC:33163 IMAGE:5269384), complete cds.
DQ891223 - Synthetic construct clone IMAGE:100003853; FLH170288.01X; RZPDo839D1098D aquaporin 5 (AQP5) gene, encodes complete protein.
DQ894406 - Synthetic construct Homo sapiens clone IMAGE:100008866; FLH170284.01L; RZPDo839D1097D aquaporin 5 (AQP5) gene, encodes complete protein.
JD386355 - Sequence 367379 from Patent EP1572962.
AB463416 - Synthetic construct DNA, clone: pF1KB6345, Homo sapiens AQP5 gene for aquaporin 5, without stop codon, in Flexi system.
CU689578 - Synthetic construct Homo sapiens gateway clone IMAGE:100018665 5' read AQP5 mRNA.
KJ890697 - Synthetic construct Homo sapiens clone ccsbBroadEn_00091 AQP5 gene, encodes complete protein.
CR542022 - Homo sapiens full open reading frame cDNA clone RZPDo834E0735D for gene AQP5, aquaporin 5; complete cds, without stopcodon.
CR541989 - Homo sapiens full open reading frame cDNA clone RZPDo834D0635D for gene AQP5, aquaporin 5; complete cds, incl. stopcodon.
BC034356 - Homo sapiens aquaporin 5, mRNA (cDNA clone IMAGE:4755120), partial cds.
MA448219 - JP 2018138019-A/20145: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P55064 (Reactome details) participates in the following event(s):

R-HSA-507868 Aquaporins passively transport water into cells
R-HSA-507870 Aquaporins passively transport water out of cells
R-HSA-432047 Passive transport by Aquaporins
R-HSA-445717 Aquaporin-mediated transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: AQP5_HUMAN, ENST00000293599.1, ENST00000293599.2, ENST00000293599.3, ENST00000293599.4, ENST00000293599.5, ENST00000293599.6, NM_001651, P55064, Q6FGW8, uc317leb.1, uc317leb.2
UCSC ID: ENST00000293599.7_4
RefSeq Accession: NM_001651.4
Protein: P55064 (aka AQP5_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.