Human Gene AQP6 (uc001rvr.1) Description and Page Index
  Description: Homo sapiens aquaporin 6, kidney specific (AQP6), mRNA.
RefSeq Summary (NM_001652): The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: U48408.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2145774 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000315520.10/ ENSP00000320247.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr12:50,366,264-50,370,922 Size: 4,659 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr12:50,366,957-50,369,454 Size: 2,498 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:50,366,264-50,370,922)mRNA (may differ from genome)Protein (282 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: AQP6_HUMAN
DESCRIPTION: RecName: Full=Aquaporin-6; Short=AQP-6; AltName: Full=Aquaporin-2-like; AltName: Full=Kidney-specific aquaporin; Short=hKID;
FUNCTION: Forms a water-specific channel that participates in distinct physiological functions such as glomerular filtration, tubular endocytosis and acid-base metabolism (By similarity).
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane; Multi-pass membrane protein (By similarity).
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.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 11.66 RPKM in Kidney - Cortex
Total median expression: 19.81 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 -252.30693-0.364 Picture PostScript Text
3' UTR -595.471468-0.406 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
IPR023254 - Aquaporin_6
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

1S6E
- Model


ModBase Predicted Comparative 3D Structure on Q13520
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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0015112 nitrate transmembrane transporter activity
GO:0015250 water channel activity
GO:0015267 channel activity

Biological Process:
GO:0006833 water transport
GO:0007588 excretion
GO:0015706 nitrate transport
GO:0034220 ion transmembrane transport
GO:0042476 odontogenesis
GO:0055085 transmembrane transport

Cellular Component:
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0030659 cytoplasmic vesicle membrane
GO:0031410 cytoplasmic vesicle


-  Descriptions from all associated GenBank mRNAs
  AL137716 - Homo sapiens mRNA; cDNA DKFZp434D2030 (from clone DKFZp434D2030).
BC065275 - Homo sapiens aquaporin 6, kidney specific, mRNA (cDNA clone IMAGE:6164409), partial cds.
JD509975 - Sequence 490999 from Patent EP1572962.
JD225998 - Sequence 207022 from Patent EP1572962.
JD563237 - Sequence 544261 from Patent EP1572962.
LF212644 - JP 2014500723-A/20147: Polycomb-Associated Non-Coding RNAs.
JD130602 - Sequence 111626 from Patent EP1572962.
JD203433 - Sequence 184457 from Patent EP1572962.
JD157535 - Sequence 138559 from Patent EP1572962.
U48408 - Human kidney water channel (hKID) mRNA, complete cds.
JD518196 - Sequence 499220 from Patent EP1572962.
JD330752 - Sequence 311776 from Patent EP1572962.
JD123205 - Sequence 104229 from Patent EP1572962.
JD115818 - Sequence 96842 from Patent EP1572962.
JD515507 - Sequence 496531 from Patent EP1572962.
JD515508 - Sequence 496532 from Patent EP1572962.
JD373971 - Sequence 354995 from Patent EP1572962.
JD177142 - Sequence 158166 from Patent EP1572962.
JD350097 - Sequence 331121 from Patent EP1572962.
JD122437 - Sequence 103461 from Patent EP1572962.
JD122562 - Sequence 103586 from Patent EP1572962.
JD369954 - Sequence 350978 from Patent EP1572962.
JD339888 - Sequence 320912 from Patent EP1572962.
JD469881 - Sequence 450905 from Patent EP1572962.
JD062240 - Sequence 43264 from Patent EP1572962.
JD065436 - Sequence 46460 from Patent EP1572962.
JD073549 - Sequence 54573 from Patent EP1572962.
JD052851 - Sequence 33875 from Patent EP1572962.
BC156043 - Synthetic construct Homo sapiens clone IMAGE:100062388, MGC:190497 aquaporin 6, kidney specific (AQP6) mRNA, encodes complete protein.
BC156929 - Synthetic construct Homo sapiens clone IMAGE:100063602, MGC:190801 aquaporin 6, kidney specific (AQP6) mRNA, encodes complete protein.
JD209507 - Sequence 190531 from Patent EP1572962.
JD420339 - Sequence 401363 from Patent EP1572962.
JD482217 - Sequence 463241 from Patent EP1572962.
JD381795 - Sequence 362819 from Patent EP1572962.
JD383561 - Sequence 364585 from Patent EP1572962.
JD205790 - Sequence 186814 from Patent EP1572962.
JD411096 - Sequence 392120 from Patent EP1572962.
JD428080 - Sequence 409104 from Patent EP1572962.
JD099255 - Sequence 80279 from Patent EP1572962.
JD214953 - Sequence 195977 from Patent EP1572962.
JD194243 - Sequence 175267 from Patent EP1572962.
JD159375 - Sequence 140399 from Patent EP1572962.
JD186171 - Sequence 167195 from Patent EP1572962.
JD372741 - Sequence 353765 from Patent EP1572962.
JD374283 - Sequence 355307 from Patent EP1572962.
JD276918 - Sequence 257942 from Patent EP1572962.
JD214901 - Sequence 195925 from Patent EP1572962.
JD068111 - Sequence 49135 from Patent EP1572962.
JD207994 - Sequence 189018 from Patent EP1572962.
JD494604 - Sequence 475628 from Patent EP1572962.
JD294621 - Sequence 275645 from Patent EP1572962.
JD052876 - Sequence 33900 from Patent EP1572962.
JD216005 - Sequence 197029 from Patent EP1572962.
JD254887 - Sequence 235911 from Patent EP1572962.
JD441934 - Sequence 422958 from Patent EP1572962.
JD236270 - Sequence 217294 from Patent EP1572962.
JD265837 - Sequence 246861 from Patent EP1572962.
JD352994 - Sequence 334018 from Patent EP1572962.
JD352995 - Sequence 334019 from Patent EP1572962.
JD526308 - Sequence 507332 from Patent EP1572962.
JD526309 - Sequence 507333 from Patent EP1572962.
JD152253 - Sequence 133277 from Patent EP1572962.
JD152254 - Sequence 133278 from Patent EP1572962.
JD256790 - Sequence 237814 from Patent EP1572962.
JD407580 - Sequence 388604 from Patent EP1572962.
JD213091 - Sequence 194115 from Patent EP1572962.
JD165235 - Sequence 146259 from Patent EP1572962.
JD560958 - Sequence 541982 from Patent EP1572962.
JD542923 - Sequence 523947 from Patent EP1572962.
JD213093 - Sequence 194117 from Patent EP1572962.
JD337597 - Sequence 318621 from Patent EP1572962.
JD463117 - Sequence 444141 from Patent EP1572962.
JD514449 - Sequence 495473 from Patent EP1572962.
JD371287 - Sequence 352311 from Patent EP1572962.
JD337598 - Sequence 318622 from Patent EP1572962.
JD463119 - Sequence 444143 from Patent EP1572962.
JD367506 - Sequence 348530 from Patent EP1572962.
JD533858 - Sequence 514882 from Patent EP1572962.
JD322172 - Sequence 303196 from Patent EP1572962.
JD220922 - Sequence 201946 from Patent EP1572962.
JD489171 - Sequence 470195 from Patent EP1572962.
JD489172 - Sequence 470196 from Patent EP1572962.
JD499748 - Sequence 480772 from Patent EP1572962.
JD499749 - Sequence 480773 from Patent EP1572962.
JD064617 - Sequence 45641 from Patent EP1572962.
JD450020 - Sequence 431044 from Patent EP1572962.
JD373800 - Sequence 354824 from Patent EP1572962.
JD078101 - Sequence 59125 from Patent EP1572962.
JD220660 - Sequence 201684 from Patent EP1572962.
JD420451 - Sequence 401475 from Patent EP1572962.
JD264777 - Sequence 245801 from Patent EP1572962.
JD107590 - Sequence 88614 from Patent EP1572962.
JD066304 - Sequence 47328 from Patent EP1572962.
JD446768 - Sequence 427792 from Patent EP1572962.
JD285375 - Sequence 266399 from Patent EP1572962.
JD225485 - Sequence 206509 from Patent EP1572962.
JD302977 - Sequence 284001 from Patent EP1572962.
JD086432 - Sequence 67456 from Patent EP1572962.
MA448221 - JP 2018138019-A/20147: Polycomb-Associated Non-Coding RNAs.

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

Protein Q13520 (Reactome details) participates in the following event(s):

R-HSA-432034 Aquaporin-6 passively transports anions into vesicles
R-HSA-432036 Aquaporin-6 passively transports anions out of vesicles
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: AQP2L, AQP6_HUMAN, NM_001652, NP_001643, Q13520
UCSC ID: uc001rvr.1
RefSeq Accession: NM_001652
Protein: Q13520 (aka AQP6_HUMAN)
CCDS: CCDS31798.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001652.3
exon count: 4CDS single in 3' UTR: no RNA size: 2654
ORF size: 849CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1553.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.