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Aliases & Descriptions for AQP3
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| AQP-3 3 | | GIL 1, 2 | | OTTHUMP00000021206 2 |
| | | Descriptions |
|---|
| Gill blood group 2 | | aquaporin 3 1, 2 | | aquaporin 3 (GIL blood group) 1, 2 | | aquaporin 3 (Gill blood group) 2 |
|
| | Search outside databases for aliases for AQP3 genePrevious GC identifers: GC09M033753 GC09M033610 |
Summaries for AQP3(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for AQP3: Aquaporin 3 is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 3 is localized at the basal lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, aquaporin 3 has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute permeation mechanisms. [provided by RefSeq] UniProtKB/Swiss-Prot: AQP3_HUMAN, Q92482Function: Forms a water-specific channel that provide kidney medullary collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. May function as a water and urea exit mechanism in antidiuresis in collecting duct cells. Also slightly permeable to urea and glycerol. May play an important role in gastrointestinal tract water transport and in glycerol metabolism (By similarity) |
Genomic Location for AQP3
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the AQP3 gene 
Entrez Gene cytogenetic band: 9p13 Ensembl cytogenetic band: 9p13.3 HGNC cytogenetic band: 9p13AQP3 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09M033431:
(about GC identifiers)
Start:
|
33,431,158 bp from pter |
End:
|
33,437,590 bp from pter |
Size:
|
6,433 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000009.10 NT_008413.17
| Proteins for AQP3
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: AQP3_HUMAN, Q92482 (See
protein sequence)Recommended Name: Aquaporin-3 Size: 292 amino acids; 31544 Da
Subcellular location: Basolateral cell membrane; Multi-pass membrane protein. Note=In collecting ducts of kidney
Secondary accessions: O00108 Q6FGW6Alternative splicing: 2 isoforms: Q92482-1 Q92482-2 REFSEQ proteins: NP_004916.1
ENSEMBL proteins: ENSP00000339229 ENSP00000297991 ENSP00000368806
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
3 Gene Ontology (GO) cellular component terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005886 | plasma membrane |
IEA | -- | | GO:0016021 | integral to membrane |
IEA | -- | | GO:0016323 | basolateral plasma membrane |
IEA | -- | About this table
Antibodies for AQP3: Assays for AQP3: | Protein
Domains/ Families for AQP3(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q92482
ProtoNet protein and cluster: Q92482 1 Blocks protein family: IPB000425 MIP family
UniProtKB/Swiss-Prot: AQP3_HUMAN, Q92482Domain: 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 | Gene Function for AQP3
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004925
Applied Biosystems Silencer® siRNAs for AQP3
Sigma-Aldrich siRNA and siRNA Panels for AQP3  Sigma-Aldrich shRNA for AQP3  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_004925                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_004925                                  untagged cDNA clones in CMV expression vector (see all 2): NM_004925 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_004925
UniProtKB/Swiss-Prot: AQP3_HUMAN, Q92482Function: Forms a water-specific channel that provide kidney medullary collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. May function as a water and urea exit mechanism in antidiuresis in collecting duct cells. Also slightly permeable to urea and glycerol. May play an important role in gastrointestinal tract water transport and in glycerol metabolism (By similarity)Genatlas biochemistry entry for AQP3:aquaporin 3,water channel,forming integral protein (basolateral membrane of collecting duct cell),providing the exit pathway to interstitium,also expressed in colon,localized in villus epithelial cells,involved in water absorption across human colonic surface cells7 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Aqp3):
3 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for AQP3
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for AQP3 
5/18 Interacting proteins for AQP3 (ENSP000002979913) via UniProtKB, MINT, and/or STRING (see all 18
)About this table
5/8 Gene Ontology (GO) biological process terms (links to tree view) (see all 8
): About this table
|
Drugs & Compounds for AQP3(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for AQP3 10/12 Novoseek chemical compound relationships for AQP3 gene (see all 12
)
About this table
|
Transcripts for AQP3(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004925
Sigma-Aldrich siRNA and siRNA Panels for AQP3  Sigma-Aldrich shRNA for AQP3  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_004925 REFSEQ mRNAs for AQP3 gene: NM_004925.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_004925               OriGene GFP tagged cDNA clone in CMV expression vector: NM_004925                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_004925                                  untagged cDNA clones in CMV expression vector (see all 2): NM_004925  Additional cDNA sequence: AJ493597.1 AK292208.1 AK303206.1 AK315760.1 BC012988.2 BC013566.1 BT007199.1 CR541991.1 CR542025.1 CR592288.1 CR598676.1 CR599072.1 CR599108.1 CR604170.1 CR607893.1 CR614710.1 CR624600.1 20 DOTS entries: DT.450022 DT.100788373 DT.100788368 DT.100727049 DT.100788375 DT.121162831 DT.121162819 DT.121162856 DT.121162838 DT.97864190 DT.100645939 DT.100762945 DT.121162844 DT.95261961 DT.95261964 DT.95261965 DT.95261971 DT.100682373 DT.121162826 DT.95149103 24/318 AceView cDNA sequences (see all 318
):AW084220 CR604170 AA715246 CR598676 BM549986 AW273155 CA454222 BP334437 BM907330 CR592288 BF437236 BC012988 CB242362 CB242374 AI635233 BQ224811 CR607893 NM_004925 BI333194 BU168336 CB529975 CR624600 CR614710 BP340426
highest scoring ESTs for AQP3:AA630981 AB001325 AJ493597 AL523755 AL531396 AL548429 AL556191 AL557210 AU098731 AU279997 Unigene Cluster for AQP3: Aquaporin 3 (Gill blood group) Hs.234642 [show with all ESTs]Unigene Representative Sequence: NM_004925
GeneLoc Exon Structure
5/7 Alternative Splicing Database (ASD) splice patterns (SP) for AQP3 (see all 7
)
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | · | 7c | |
| SP1: | |   | |   | |   | - |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | - |   | |   | - |   | - |   | |   | |   | - |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | - |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for AQP3
3 Ensembl transcripts including schematic representations: ENST00000343952
ENST00000297991
ENST00000379492
|
Expression for AQP3
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| AQP3 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for AQP3
1 / 2 / 3 9 probe-sets matching AQP3 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TTTGCTTTTG
SOURCE GeneReport for Unigene cluster: Hs.234642
Expression variation in blood from EXPOLDB for AQP3 UniProtKB/Swiss-Prot: AQP3_HUMAN, Q92482Tissue specificity: Widely expressed in epithelial cells of kidney (collecting ducts) and airways, in keratinocytes, immature dendritic cells and erythrocytes. Isoform 2 is not detectable in erythrocytes at the protein level |
Orthologs for AQP3
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for AQP3 gene from 5/13 species (see all 13
)
About this table Species with no ortholog for AQP3
ENSEMBL Gene Tree for AQP3 | Paralogs for AQP3(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for AQP3 gene
- AQP7P32 AQP92 AQP102 AQP7P12 AQP72 AQP7P42
|
SNPs/Variants for AQP3(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
| UniProtKB/Swiss-Prot: AQP3_HUMAN, Q92482Polymorphism: AQP3 is responsible for the GIL blood group system. Isoform 2 is detected in GIL-negative individuals that lack functional AQP3
HapMap Linkage Disequilibrium images for AQP3 (up to first 250kb)
|
Disorders & Mutations for AQP3
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 600170 disorders: 607457 8 Novoseek disease relationships for AQP3 gene
About this table
Blood Group Antigen Gene Mutation Database (BGMUT) GILL blood group system  Human Gene Mutation Database: AQP3
|
Medical News for AQP3(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for AQP3 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/136 PubMed articles for AQP3 gene (see all 136
):- Structure and chromosomal localization of a human water channel (AQP3) gene. (PubMed id 7558005)1, 2, 3, 4 Ishibashi K.... Marumo F. (1995)
- AQP3 deficiency in humans and the molecular basis of a novel blood group system, GIL. (PubMed id 12239222)1, 3, 4 Roudier N.... Bailly P. (2002)
- DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)3, 4 Humphray S.J.... Dunham I. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Expression of aquaporin 3 (AQP3) in normal and neoplastic lung tissues. (PubMed id 17056099)1, 3 Liu Y.L....Katoh R. (2007)
- Aquaporin 3 expression in human fetal membranes and its up-regulation by cyclic adenosine monophosphate in amnion epithelial cell culture. (PubMed id 16638588)1, 3 Wang S....Ross M.G. (2006)
- Membrane trafficking of aquaporin 3 induced by epinephrine. (PubMed id 18601899)1, 3 Yasui H....Hirano K. (2008)
- Expression of aquaporin-3 in human peritoneal mesothelial cells and its up-regulation by glucose in vitro. (PubMed id 12234316)1, 3 Lai K.N....Chan T.M. (2002)
- Expression of aquaporin 3 and its localization in normal skeletal myofibres. (PubMed id 12769265)1, 3 Wakayama Y....Oniki H. (2002)
- The expression of differentiation markers in aquaporin-3 deficient epidermis. (PubMed id 19184071)1, 3 Hara-Chikuma M....Miyachi Y. (2009)
|
Search for AQP3
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing AQP3
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing AQP3
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AQP3(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| dbRBC/BGMUT | http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=gil | | SeattleSNPs | http://pga.gs.washington.edu/data/aqp3/ |
|
| | | About This Section
| --
| Services for AQP3(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for AQP3:

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Incremental update: 13 Oct 2009
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