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Aliases for AQP3 Gene

Aliases for AQP3 Gene

  • Aquaporin 3 (Gill Blood Group) 2 3
  • Aquaporin 3 (GIL Blood Group) 2 3
  • Aquaglyceroporin-3 3 4
  • AQP-3 3 4
  • Gill Blood Group 2
  • Aquaporin 3 2
  • Aquaporin-3 3
  • GIL 3

External Ids for AQP3 Gene

Summaries for AQP3 Gene

Entrez Gene Summary for AQP3 Gene

  • This gene encodes the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as aquaporin 0. 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, Aug 2011]

GeneCards Summary for AQP3 Gene

AQP3 (Aquaporin 3 (Gill Blood Group)) is a Protein Coding gene. Diseases associated with AQP3 include urinary tract obstruction and ureteral disease. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Vasopressin-regulated water reabsorption. GO annotations related to this gene include transporter activity and glycerol channel activity. An important paralog of this gene is AQP10.

UniProtKB/Swiss-Prot for AQP3 Gene

  • Water channel required to promote glycerol permeability and water transport across cell membranes. Acts as a glycerol transporter in skin and plays an important role in regulating SC (stratum corneum) and epidermal glycerol content. Involved in skin hydration, wound healing, and tumorigenesis. Provides kidney medullary collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. Slightly permeable to urea and may function as a water and urea exit mechanism in antidiuresis in collecting duct cells. It may play an important role in gastrointestinal tract water transport and in glycerol metabolism (By similarity).

Gene Wiki entry for AQP3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AQP3 Gene

Genomics for AQP3 Gene

Genomic Location for AQP3 Gene

Start:
33,441,154 bp from pter
End:
33,447,633 bp from pter
Size:
6,480 bases
Orientation:
Minus strand

Genomic View for AQP3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AQP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AQP3 Gene

Regulatory Elements for AQP3 Gene

Proteins for AQP3 Gene

  • Protein details for AQP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92482-AQP3_HUMAN
    Recommended name:
    Aquaporin-3
    Protein Accession:
    Q92482
    Secondary Accessions:
    • A8K843
    • B2RE16
    • D3DRL3
    • O00108
    • Q6FGT2
    • Q6FGW6

    Protein attributes for AQP3 Gene

    Size:
    292 amino acids
    Molecular mass:
    31544 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for AQP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AQP3 Gene

Proteomics data for AQP3 Gene at MOPED

Post-translational modifications for AQP3 Gene

Other Protein References for AQP3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for AQP3 Gene

Domains for AQP3 Gene

Gene Families for AQP3 Gene

HGNC:
  • bloodgroup :Blood group antigens
  • AQP :Ion channels / Aquaporins
IUPHAR :

Protein Domains for AQP3 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

AQP3_HUMAN
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):
    • Q92482
Family:
  • Belongs to the MIP/aquaporin (TC 1.A.8) family.:
    • Q92482
genes like me logo Genes that share domains with AQP3: view

Function for AQP3 Gene

Molecular function for AQP3 Gene

GENATLAS Biochemistry: 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 cells
UniProtKB/Swiss-Prot Function: Water channel required to promote glycerol permeability and water transport across cell membranes. Acts as a glycerol transporter in skin and plays an important role in regulating SC (stratum corneum) and epidermal glycerol content. Involved in skin hydration, wound healing, and tumorigenesis. Provides kidney medullary collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. Slightly permeable to urea and may function as a water and urea exit mechanism in antidiuresis in collecting duct cells. It may play an important role in gastrointestinal tract water transport and in glycerol metabolism (By similarity).
UniProtKB/Swiss-Prot Induction: Up-regulated by magnesium.

Gene Ontology (GO) - Molecular Function for AQP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity NAS 7543093
GO:0015204 urea transmembrane transporter activity IBA --
GO:0015250 water channel activity TAS 17943189
GO:0015254 glycerol channel activity IDA 17943189
genes like me logo Genes that share ontologies with AQP3: view
genes like me logo Genes that share phenotypes with AQP3: view

Animal Models for AQP3 Gene

MGI Knock Outs for AQP3:

miRNA for AQP3 Gene

miRTarBase miRNAs that target AQP3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for AQP3 Gene

Localization for AQP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AQP3 Gene

Basolateral cell membrane; Multi-pass membrane protein. Note=In collecting ducts of kidney.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AQP3 Gene COMPARTMENTS Subcellular localization image for AQP3 gene
Compartment Confidence
plasma membrane 5
endosome 1
extracellular 1

Gene Ontology (GO) - Cellular Components for AQP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 18718702
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0005911 cell-cell junction IDA 18718702
GO:0016020 membrane --
genes like me logo Genes that share ontologies with AQP3: view

Pathways for AQP3 Gene

genes like me logo Genes that share pathways with AQP3: view

Gene Ontology (GO) - Biological Process for AQP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002684 positive regulation of immune system process IDA 17943189
GO:0003091 renal water homeostasis TAS --
GO:0006810 transport NAS 7543093
GO:0006833 water transport TAS 17943189
GO:0007588 excretion TAS 7543093
genes like me logo Genes that share ontologies with AQP3: view

Compounds for AQP3 Gene

(1) HMDB Compounds for AQP3 Gene

Compound Synonyms Cas Number PubMed IDs
Water
  • Dihydrogen oxide
7732-18-5

(1) IUPHAR Ligand for AQP3 Gene

Ligand Type Action Affinity Pubmed IDs
Hg2+ Inhibitor None

(19) Novoseek inferred chemical compound relationships for AQP3 Gene

Compound -log(P) Hits PubMed IDs
glycerol 76.2 50
pcmbs 56.6 1
urea 56.5 12
hgcl2 55.9 1
mercury chloride 48.4 1
genes like me logo Genes that share compounds with AQP3: view

Transcripts for AQP3 Gene

Unigene Clusters for AQP3 Gene

Aquaporin 3 (Gill blood group):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AQP3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c
SP1: - - -
SP2: - - - -
SP3: - -
SP4: - -
SP5:
SP6:
SP7: -

Relevant External Links for AQP3 Gene

GeneLoc Exon Structure for
AQP3
ECgene alternative splicing isoforms for
AQP3

Expression for AQP3 Gene

mRNA expression in normal human tissues for AQP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AQP3 Gene

This gene is overexpressed in Esophagus - Mucosa (16.0), Skin - Not Sun Exposed (Suprapubic) (6.6), Minor Salivary Gland (5.7), Skin - Sun Exposed (Lower leg) (5.0), and Vagina (4.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for AQP3 Gene

SOURCE GeneReport for Unigene cluster for AQP3 Gene Hs.234642

mRNA Expression by UniProt/SwissProt for AQP3 Gene

Q92482-AQP3_HUMAN
Tissue 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
genes like me logo Genes that share expressions with AQP3: view

Orthologs for AQP3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AQP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AQP3 36
  • 99.54 (n)
  • 99.32 (a)
AQP3 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AQP3 36
  • 90.64 (n)
  • 94.86 (a)
AQP3 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AQP3 36
  • 90.75 (n)
  • 95.21 (a)
AQP3 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aqp3 36
  • 88.36 (n)
  • 95.55 (a)
Aqp3 16
Aqp3 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AQP3 37
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AQP3 37
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aqp3 36
  • 88.01 (n)
  • 94.52 (a)
chicken
(Gallus gallus)
Aves AQP3 36
  • 74.32 (n)
  • 81.16 (a)
AQP3 37
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AQP3 37
  • 79 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia aqp3 36
tropical clawed frog
(Silurana tropicalis)
Amphibia aqp3 36
  • 73.86 (n)
  • 78.08 (a)
Str.15346 36
zebrafish
(Danio rerio)
Actinopterygii aqp3a 37
  • 65 (a)
OneToMany
aqp3b 36
  • 65.86 (n)
  • 66.21 (a)
aqp3b 37
  • 64 (a)
OneToMany
Dr.922 36
worm
(Caenorhabditis elegans)
Secernentea aqp-1 37
  • 30 (a)
ManyToMany
aqp-2 37
  • 42 (a)
ManyToMany
aqp-3 37
  • 27 (a)
ManyToMany
aqp-7 37
  • 37 (a)
ManyToMany
aqp-8 37
  • 34 (a)
ManyToMany
C01G6.1a 38
  • 44 (a)
Y69E1A.7 38
  • 40 (a)
C01G6.1b 38
  • 44 (a)
M02F4.8 38
  • 39 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 37
  • 16 (a)
OneToMany
-- 39
YFL054C 36
  • 48.33 (n)
  • 38.96 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC977.17 36
  • 47.86 (n)
  • 40.47 (a)
Species with no ortholog for AQP3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AQP3 Gene

ENSEMBL:
Gene Tree for AQP3 (if available)
TreeFam:
Gene Tree for AQP3 (if available)

Paralogs for AQP3 Gene

Paralogs for AQP3 Gene

Selected SIMAP similar genes for AQP3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with AQP3: view

Variants for AQP3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for AQP3 Gene

Q92482-AQP3_HUMAN
AQP3 is responsible for the GIL blood group system. Isoform 2 is detected in GIL-negative individuals that lack functional AQP3

Sequence variations from dbSNP and Humsavar for AQP3 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs517210 -- 33,447,308(-) CAGCT(C/G)TGACC intron-variant
rs591810 -- 33,447,426(-) ATCCT(C/G)GTGGT synonymous-codon, reference
rs2227285 -- 33,444,002(-) AAGCG(C/G)CTCTA intron-variant
rs2228332 -- 33,442,954(-) CACTT(C/T)GCCGA reference, synonymous-codon
rs2228333 -- 33,443,869(-) GTGGC(C/T)CAGGT reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for AQP3 Gene

Variant ID Type Subtype PubMed ID
nsv893018 CNV Gain 21882294
nsv466380 CNV Loss 19166990
nsv516500 CNV Loss 19592680
nsv893019 CNV Gain 21882294
dgv8163n71 CNV Gain 21882294
dgv8164n71 CNV Gain 21882294
dgv8165n71 CNV Loss 21882294

Relevant External Links for AQP3 Gene

HapMap Linkage Disequilibrium report
AQP3
Human Gene Mutation Database (HGMD)
AQP3
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group

Disorders for AQP3 Gene

(1) OMIM Diseases for AQP3 Gene (600170)

(3) University of Copenhagen DISEASES for AQP3 Gene

(9) Novoseek inferred disease relationships for AQP3 Gene

Disease -log(P) Hits PubMed IDs
adenocarcinoma lung 37.1 1
nephrotic syndrome 17.3 1
eczema 12.4 3
adenocarcinoma 0.686 6
lung diseases 0 1

Relevant External Links for AQP3

Genetic Association Database (GAD)
AQP3
Human Genome Epidemiology (HuGE) Navigator
AQP3
genes like me logo Genes that share disorders with AQP3: view

No data available for UniProtKB/Swiss-Prot for AQP3 Gene

Publications for AQP3 Gene

  1. Structure and chromosomal localization of a human water channel (AQP3) gene. (PMID: 7558005) Ishibashi K. … Marumo F. (Genomics 1995) 2 3 4 23
  2. AQP3 deficiency in humans and the molecular basis of a novel blood group system, GIL. (PMID: 12239222) Roudier N. … Bailly P. (J. Biol. Chem. 2002) 3 4 23
  3. Expression of aquaporin 3 and its localization in normal skeletal myofibres. (PMID: 12769265) Wakayama Y. … Oniki H. (Histochem. J. 2002) 3 23
  4. Nickel and extracellular acidification inhibit the water permeability of human aquaporin-3 in lung epithelial cells. (PMID: 12773542) Zelenina M. … Aperia A. (J. Biol. Chem. 2003) 3 23
  5. Isolation of human aquaporin 3 gene. (PMID: 7543093) Inase N. … Marumo F. (J. Biol. Chem. 1995) 3 23

Products for AQP3 Gene

Sources for AQP3 Gene

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