UniProtKB - Q92482 (AQP3_HUMAN)
Protein
Aquaporin-3
Gene
AQP3
Organism
Homo sapiens (Human)
Status
Functioni
Water channel required to promote glycerol permeability and water transport across cell membranes (PubMed:12239222, PubMed:30420639). 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).By similarity2 Publications
GO - Molecular functioni
- glycerol channel activity Source: UniProtKB
- identical protein binding Source: IntAct
- urea transmembrane transporter activity Source: GO_Central
- water channel activity Source: UniProtKB
GO - Biological processi
- cellular response to hypoxia Source: MGI
- cellular response to oxygen-glucose deprivation Source: Ensembl
- glycerol transport Source: UniProtKB
- odontogenesis Source: UniProtKB
- positive regulation of immune system process Source: BHF-UCL
- regulation of keratinocyte differentiation Source: BHF-UCL
- renal water absorption Source: Ensembl
- renal water homeostasis Source: Reactome
- response to calcium ion Source: BHF-UCL
- response to retinoic acid Source: BHF-UCL
- response to vitamin D Source: BHF-UCL
- water transport Source: UniProtKB
Keywordsi
Molecular function | Blood group antigen |
Biological process | Transport |
Enzyme and pathway databases
PathwayCommonsi | Q92482 |
Reactomei | R-HSA-432040, Vasopressin regulates renal water homeostasis via Aquaporins R-HSA-432047, Passive transport by Aquaporins |
SIGNORi | Q92482 |
Names & Taxonomyi
Protein namesi | Recommended name: Aquaporin-3Short name: AQP-3 Alternative name(s): Aquaglyceroporin-3 |
Gene namesi | Name:AQP3 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:636, AQP3 |
MIMi | 600170, gene |
neXtProti | NX_Q92482 |
VEuPathDBi | HostDB:ENSG00000165272.14 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Multi-pass membrane protein By similarity
- Basolateral cell membrane By similarity; Multi-pass membrane protein By similarity
Nucleus
- nucleoplasm Source: HPA
Plasma Membrane
- basolateral plasma membrane Source: UniProtKB
- plasma membrane Source: UniProtKB
Other locations
- cell-cell junction Source: UniProtKB
- cytoplasm Source: UniProtKB
- integral component of membrane Source: BHF-UCL
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 26 | CytoplasmicCuratedAdd BLAST | 26 | |
Transmembranei | 27 – 47 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 48 – 53 | ExtracellularCurated | 6 | |
Transmembranei | 54 – 74 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 75 – 78 | CytoplasmicCurated | 4 | |
Intramembranei | 79 – 92 | Discontinuously helicalBy similarityAdd BLAST | 14 | |
Topological domaini | 93 – 98 | CytoplasmicCurated | 6 | |
Transmembranei | 99 – 123 | HelicalBy similarityAdd BLAST | 25 | |
Topological domaini | 124 – 157 | ExtracellularCuratedAdd BLAST | 34 | |
Transmembranei | 158 – 178 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 179 – 188 | CytoplasmicCurated | 10 | |
Transmembranei | 189 – 208 | HelicalBy similarityAdd BLAST | 20 | |
Intramembranei | 209 – 227 | Discontinuously helicalBy similarityAdd BLAST | 19 | |
Topological domaini | 228 – 244 | ExtracellularCuratedAdd BLAST | 17 | |
Transmembranei | 245 – 265 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 266 – 292 | CytoplasmicCuratedAdd BLAST | 27 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 360 |
MIMi | 607457, phenotype |
OpenTargetsi | ENSG00000165272 |
PharmGKBi | PA24921 |
Miscellaneous databases
Pharosi | Q92482, Tbio |
Chemistry databases
DrugBanki | DB11365, Sennosides |
GuidetoPHARMACOLOGYi | 690 |
Genetic variation databases
BioMutai | AQP3 |
DMDMi | 2497938 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000063943 | 1 – 292 | Aquaporin-3Add BLAST | 292 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 141 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
jPOSTi | Q92482 |
MassIVEi | Q92482 |
PaxDbi | Q92482 |
PeptideAtlasi | Q92482 |
PRIDEi | Q92482 |
ProteomicsDBi | 75263 [Q92482-1] 75264 [Q92482-2] |
PTM databases
GlyGeni | Q92482, 1 site |
iPTMneti | Q92482 |
Expressioni
Tissue specificityi
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.
Inductioni
Up-regulated by magnesium.1 Publication
Gene expression databases
Bgeei | ENSG00000165272, Expressed in nasal cavity epithelium and 222 other tissues |
ExpressionAtlasi | Q92482, baseline and differential |
Genevisiblei | Q92482, HS |
Organism-specific databases
HPAi | ENSG00000165272, Tissue enhanced (esophagus, lymphoid tissue, salivary gland, tongue) |
Interactioni
Binary interactionsi
Hide detailsQ92482
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 106856, 32 interactors |
IntActi | Q92482, 27 interactors |
STRINGi | 9606.ENSP00000297991 |
Miscellaneous databases
RNActi | Q92482, protein |
Family & Domainsi
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 83 – 85 | NPA 1By similarity | 3 | |
Motifi | 215 – 217 | NPA 2By similarity | 3 |
Domaini
Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA).By similarity
Sequence similaritiesi
Keywords - Domaini
Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0224, Eukaryota |
GeneTreei | ENSGT00940000157242 |
HOGENOMi | CLU_020019_9_1_1 |
InParanoidi | Q92482 |
OMAi | IGCHDEP |
OrthoDBi | 1152704at2759 |
PhylomeDBi | Q92482 |
TreeFami | TF313173 |
Family and domain databases
CDDi | cd00333, MIP, 1 hit |
Gene3Di | 1.20.1080.10, 1 hit |
InterProi | View protein in InterPro IPR023271, Aquaporin-like IPR023275, Aquaporin_3 IPR000425, MIP IPR022357, MIP_CS |
Pfami | View protein in Pfam PF00230, MIP, 1 hit |
PRINTSi | PR02015, AQUAPORIN3 PR00783, MINTRINSICP |
SUPFAMi | SSF81338, SSF81338, 1 hit |
TIGRFAMsi | TIGR00861, MIP, 1 hit |
PROSITEi | View protein in PROSITE PS00221, MIP, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q92482-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MGRQKELVSR CGEMLHIRYR LLRQALAECL GTLILVMFGC GSVAQVVLSR
60 70 80 90 100
GTHGGFLTIN LAFGFAVTLG ILIAGQVSGA HLNPAVTFAM CFLAREPWIK
110 120 130 140 150
LPIYTLAQTL GAFLGAGIVF GLYYDAIWHF ADNQLFVSGP NGTAGIFATY
160 170 180 190 200
PSGHLDMING FFDQFIGTAS LIVCVLAIVD PYNNPVPRGL EAFTVGLVVL
210 220 230 240 250
VIGTSMGFNS GYAVNPARDF GPRLFTALAG WGSAVFTTGQ HWWWVPIVSP
260 270 280 290
LLGSIAGVFV YQLMIGCHLE QPPPSNEEEN VKLAHVKHKE QI
Isoform 2 (identifier: Q92482-2) [UniParc]FASTAAdd to basket
Also known as: delta5
The sequence of this isoform differs from the canonical sequence as follows:
165-281: FIGTASLIVC...PPPSNEEENV → DRPALVVGAH...FPLDLAQIAP
282-292: Missing.
Note: Due to a polymorphism at the 5'-splice donor site of intron 5, leading to exon 5 skipping and premature termination of translation. This is the molecular basis of the GIL blood group.Curated
Show »Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A2R8Y2R4 | A0A2R8Y2R4_HUMAN | Aquaglyceroporin-3 | AQP3 hCG_30266 | 237 | Annotation score: | ||
A0A2R8YDV4 | A0A2R8YDV4_HUMAN | Aquaglyceroporin-3 | AQP3 | 155 | Annotation score: | ||
A0A2R8YD22 | A0A2R8YD22_HUMAN | Aquaporin-3 | AQP3 | 102 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 23 | R → G in BAF84897 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 137 | V → A in CAG46822 (Ref. 4) Curated | 1 |
Polymorphismi
AQP3 is responsible for the GIL blood group system. Isoform 2 is detected in GIL-negative individuals that lack functional AQP3.
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_025089 | 43 | V → M1 PublicationCorresponds to variant dbSNP:rs34942735Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_003229 | 165 – 281 | FIGTA…EEENV → DRPALVVGAHRVPTPGLHCG CLRVPADDRLPPGAAPTLQR GRECEAGPCEAQGADLSGKG HLPLRCPGLEHPLTVQGHSQ EAPLHDPPFQAKELPIYPHP TKTAPSGFPLDLAQIAP in isoform 2. 1 PublicationAdd BLAST | 117 | |
Alternative sequenceiVSP_003230 | 282 – 292 | Missing in isoform 2. 1 PublicationAdd BLAST | 11 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB001325 mRNA Translation: BAA19237.1 AJ493597 mRNA Translation: CAD38526.1 CR541991 mRNA Translation: CAG46788.1 CR542025 mRNA Translation: CAG46822.1 BT007199 mRNA Translation: AAP35863.1 AK292208 mRNA Translation: BAF84897.1 AK315760 mRNA Translation: BAG38113.1 DQ083949 Genomic DNA Translation: AAY68214.1 AL356218 Genomic DNA No translation available. CH471071 Genomic DNA Translation: EAW58500.1 CH471071 Genomic DNA Translation: EAW58504.1 BC013566 mRNA Translation: AAH13566.1 |
CCDSi | CCDS6542.1 [Q92482-1] |
PIRi | A57119 |
RefSeqi | NP_001305073.1, NM_001318144.1 NP_004916.1, NM_004925.4 [Q92482-1] |
Genome annotation databases
Ensembli | ENST00000297991; ENSP00000297991; ENSG00000165272 [Q92482-1] |
GeneIDi | 360 |
KEGGi | hsa:360 |
UCSCi | uc003zsx.4, human [Q92482-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
dbRBC/BGMUT Blood group antigen gene mutation database |
SeattleSNPs |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB001325 mRNA Translation: BAA19237.1 AJ493597 mRNA Translation: CAD38526.1 CR541991 mRNA Translation: CAG46788.1 CR542025 mRNA Translation: CAG46822.1 BT007199 mRNA Translation: AAP35863.1 AK292208 mRNA Translation: BAF84897.1 AK315760 mRNA Translation: BAG38113.1 DQ083949 Genomic DNA Translation: AAY68214.1 AL356218 Genomic DNA No translation available. CH471071 Genomic DNA Translation: EAW58500.1 CH471071 Genomic DNA Translation: EAW58504.1 BC013566 mRNA Translation: AAH13566.1 |
CCDSi | CCDS6542.1 [Q92482-1] |
PIRi | A57119 |
RefSeqi | NP_001305073.1, NM_001318144.1 NP_004916.1, NM_004925.4 [Q92482-1] |
3D structure databases
SMRi | Q92482 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 106856, 32 interactors |
IntActi | Q92482, 27 interactors |
STRINGi | 9606.ENSP00000297991 |
Chemistry databases
DrugBanki | DB11365, Sennosides |
GuidetoPHARMACOLOGYi | 690 |
PTM databases
GlyGeni | Q92482, 1 site |
iPTMneti | Q92482 |
Genetic variation databases
BioMutai | AQP3 |
DMDMi | 2497938 |
Proteomic databases
jPOSTi | Q92482 |
MassIVEi | Q92482 |
PaxDbi | Q92482 |
PeptideAtlasi | Q92482 |
PRIDEi | Q92482 |
ProteomicsDBi | 75263 [Q92482-1] 75264 [Q92482-2] |
Protocols and materials databases
Antibodypediai | 55184, 344 antibodies |
DNASUi | 360 |
Genome annotation databases
Ensembli | ENST00000297991; ENSP00000297991; ENSG00000165272 [Q92482-1] |
GeneIDi | 360 |
KEGGi | hsa:360 |
UCSCi | uc003zsx.4, human [Q92482-1] |
Organism-specific databases
CTDi | 360 |
DisGeNETi | 360 |
GeneCardsi | AQP3 |
HGNCi | HGNC:636, AQP3 |
HPAi | ENSG00000165272, Tissue enhanced (esophagus, lymphoid tissue, salivary gland, tongue) |
MIMi | 600170, gene 607457, phenotype |
neXtProti | NX_Q92482 |
OpenTargetsi | ENSG00000165272 |
PharmGKBi | PA24921 |
VEuPathDBi | HostDB:ENSG00000165272.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0224, Eukaryota |
GeneTreei | ENSGT00940000157242 |
HOGENOMi | CLU_020019_9_1_1 |
InParanoidi | Q92482 |
OMAi | IGCHDEP |
OrthoDBi | 1152704at2759 |
PhylomeDBi | Q92482 |
TreeFami | TF313173 |
Enzyme and pathway databases
PathwayCommonsi | Q92482 |
Reactomei | R-HSA-432040, Vasopressin regulates renal water homeostasis via Aquaporins R-HSA-432047, Passive transport by Aquaporins |
SIGNORi | Q92482 |
Miscellaneous databases
BioGRID-ORCSi | 360, 7 hits in 995 CRISPR screens |
ChiTaRSi | AQP3, human |
GeneWikii | Aquaporin_3 |
GenomeRNAii | 360 |
Pharosi | Q92482, Tbio |
PROi | PR:Q92482 |
RNActi | Q92482, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000165272, Expressed in nasal cavity epithelium and 222 other tissues |
ExpressionAtlasi | Q92482, baseline and differential |
Genevisiblei | Q92482, HS |
Family and domain databases
CDDi | cd00333, MIP, 1 hit |
Gene3Di | 1.20.1080.10, 1 hit |
InterProi | View protein in InterPro IPR023271, Aquaporin-like IPR023275, Aquaporin_3 IPR000425, MIP IPR022357, MIP_CS |
Pfami | View protein in Pfam PF00230, MIP, 1 hit |
PRINTSi | PR02015, AQUAPORIN3 PR00783, MINTRINSICP |
SUPFAMi | SSF81338, SSF81338, 1 hit |
TIGRFAMsi | TIGR00861, MIP, 1 hit |
PROSITEi | View protein in PROSITE PS00221, MIP, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | AQP3_HUMAN | |
Accessioni | Q92482Primary (citable) accession number: Q92482 Secondary accession number(s): A8K843 Q6FGW6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | November 1, 1997 | |
Last modified: | April 7, 2021 | |
This is version 181 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Blood group antigen proteins
Nomenclature of blood group antigens and list of entries - Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families