Human Gene AQP7 (ENST00000297988.6_9) from GENCODE V47lift37
  Description: aquaporin 7, transcript variant 12 (from RefSeq NR_164779.1)
Gencode Transcript: ENST00000297988.6_9
Gencode Gene: ENSG00000165269.13_16
Transcript (Including UTRs)
   Position: hg19 chr9:33,383,189-33,402,566 Size: 19,378 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr9:33,385,003-33,401,260 Size: 16,258 Coding Exon Count: 7 

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 (chr9:33,383,189-33,402,566)mRNA (may differ from genome)Protein (342 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AQP7_HUMAN
DESCRIPTION: RecName: Full=Aquaporin-7; Short=AQP-7; AltName: Full=Aquaglyceroporin-7; AltName: Full=Aquaporin adipose; Short=AQPap; AltName: Full=Aquaporin-7-like;
FUNCTION: Forms a channel for water and glycerol.
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-Ala/Ser (NPA).
POLYMORPHISM: Genetic variations in AQP7 are responsible for changes in glycerol release during exercise and define the glycerol quantitative trait locus (GLYCQTL) [MIM:614411].
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: AQP7
Diseases sorted by gene-association score: chronic closed-angle glaucoma (9), meniere's disease (7), obesity (1)

-  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: 82.59 RPKM in Adipose - Visceral (Omentum)
Total median expression: 373.12 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 -73.90221-0.334 Picture PostScript Text
3' UTR -651.801814-0.359 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
IPR015686 - Aquaporin_7
IPR000425 - MIP

Pfam Domains:
PF00230 - Major intrinsic protein

SCOP Domains:
81338 - Aquaporin-like

ModBase Predicted Comparative 3D Structure on O14520
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    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0015250 water channel activity
GO:0015254 glycerol channel activity
GO:0015267 channel activity

Biological Process:
GO:0006091 generation of precursor metabolites and energy
GO:0006833 water transport
GO:0007588 excretion
GO:0015793 glycerol transport
GO:0055085 transmembrane transport

Cellular Component:
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005911 cell-cell junction
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  JD203109 - Sequence 184133 from Patent EP1572962.
JD075442 - Sequence 56466 from Patent EP1572962.
JD427784 - Sequence 408808 from Patent EP1572962.
JD213465 - Sequence 194489 from Patent EP1572962.
JD349285 - Sequence 330309 from Patent EP1572962.
JD528222 - Sequence 509246 from Patent EP1572962.
BC119672 - Homo sapiens aquaporin 7, mRNA (cDNA clone IMAGE:40116208), complete cds.
BC119673 - Homo sapiens aquaporin 7, mRNA (cDNA clone IMAGE:40116209), complete cds.
JD548532 - Sequence 529556 from Patent EP1572962.
DQ786216 - Homo sapiens clone HLS_IMAGE_162491 mRNA sequence.
AB006190 - Homo sapiens mRNA for aquaporin adipose, complete cds.
BC062701 - Homo sapiens aquaporin 7, mRNA (cDNA clone MGC:71981 IMAGE:30324263), complete cds.
JD396404 - Sequence 377428 from Patent EP1572962.
JD192226 - Sequence 173250 from Patent EP1572962.
JD047463 - Sequence 28487 from Patent EP1572962.
JD528671 - Sequence 509695 from Patent EP1572962.
JD396729 - Sequence 377753 from Patent EP1572962.
CU687596 - Synthetic construct Homo sapiens gateway clone IMAGE:100022987 5' read AQP7 mRNA.
KJ901290 - Synthetic construct Homo sapiens clone ccsbBroadEn_10684 AQP7 gene, encodes complete protein.
AK297860 - Homo sapiens cDNA FLJ60727 complete cds, highly similar to Aquaporin-7.
AK297885 - Homo sapiens cDNA FLJ52444 complete cds, highly similar to Aquaporin-7.
AK301949 - Homo sapiens cDNA FLJ51136 complete cds, weakly similar to Aquaporin-7.
AK300716 - Homo sapiens cDNA FLJ51100 complete cds, highly similar to Aquaporin-7.
AK294028 - Homo sapiens cDNA FLJ52223 complete cds, highly similar to Aquaporin-7.
AK315879 - Homo sapiens cDNA, FLJ79528 complete cds, highly similar to Aquaporin-7.
AK310456 - Homo sapiens cDNA, FLJ17498.
JD463979 - Sequence 445003 from Patent EP1572962.
JD438383 - Sequence 419407 from Patent EP1572962.
JD438384 - Sequence 419408 from Patent EP1572962.
JD443135 - Sequence 424159 from Patent EP1572962.
JD443134 - Sequence 424158 from Patent EP1572962.
JD465501 - Sequence 446525 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-4202 - arsenic detoxification (mammals)

Reactome (by CSHL, EBI, and GO)

Protein O14520 (Reactome details) participates in the following event(s):

R-HSA-432074 Aquaporin-7 passively transports glycerol out of cell
R-HSA-507869 Aquaporins passively transport glycerol into cells
R-HSA-507871 Aquaporins passively transport glycerol out of cells
R-HSA-507868 Aquaporins passively transport water into cells
R-HSA-507870 Aquaporins passively transport water out of cells
R-HSA-432030 Transport of glycerol from adipocytes to the liver by Aquaporins
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: AQP7L, AQP7_HUMAN, AQP9 , ENST00000297988.1, ENST00000297988.2, ENST00000297988.3, ENST00000297988.4, ENST00000297988.5, NR_164779, O14520, Q08E94, Q5T5L9, Q8NHM3, uc317mcn.1, uc317mcn.2
UCSC ID: ENST00000297988.6_9
RefSeq Accession: NM_001170.3
Protein: O14520 (aka AQP7_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.