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Protein

Aquaporin-3

Gene

AQP3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

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).By similarity

GO - Molecular functioni

GO - Biological processi

  • cellular response to hypoxia Source: MGI
  • cellular response to oxygen-glucose deprivation Source: Ensembl
  • excretion Source: ProtInc
  • 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
  • urea transport Source: Ensembl
  • water transport Source: BHF-UCL

Keywordsi

Molecular functionBlood group antigen
Biological processTransport

Enzyme and pathway databases

ReactomeiR-HSA-432040 Vasopressin regulates renal water homeostasis via Aquaporins
R-HSA-432047 Passive transport by Aquaporins
SIGNORiQ92482

Names & Taxonomyi

Protein namesi
Recommended name:
Aquaporin-3
Short name:
AQP-3
Alternative name(s):
Aquaglyceroporin-3
Gene namesi
Name:AQP3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000165272.14
HGNCiHGNC:636 AQP3
MIMi600170 gene
neXtProtiNX_Q92482

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 28CytoplasmicSequence analysisAdd BLAST28
Transmembranei29 – 49HelicalSequence analysisAdd BLAST21
Topological domaini50 – 53ExtracellularSequence analysis4
Transmembranei54 – 74HelicalSequence analysisAdd BLAST21
Topological domaini75 – 109CytoplasmicSequence analysisAdd BLAST35
Transmembranei110 – 130HelicalSequence analysisAdd BLAST21
Topological domaini131 – 157ExtracellularSequence analysisAdd BLAST27
Transmembranei158 – 178HelicalSequence analysisAdd BLAST21
Topological domaini179 – 188CytoplasmicSequence analysis10
Transmembranei189 – 209HelicalSequence analysisAdd BLAST21
Topological domaini210 – 244ExtracellularSequence analysisAdd BLAST35
Transmembranei245 – 265HelicalSequence analysisAdd BLAST21
Topological domaini266 – 292CytoplasmicSequence analysisAdd BLAST27

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi360
MIMi607457 phenotype
OpenTargetsiENSG00000165272
PharmGKBiPA24921

Polymorphism and mutation databases

BioMutaiAQP3
DMDMi2497938

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000639431 – 292Aquaporin-3Add BLAST292

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi141N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ92482
PeptideAtlasiQ92482
PRIDEiQ92482

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

BgeeiENSG00000165272
CleanExiHS_AQP3
GenevisibleiQ92482 HS

Organism-specific databases

HPAiHPA014924

Interactioni

Protein-protein interaction databases

BioGridi106856, 4 interactors
IntActiQ92482, 4 interactors
STRINGi9606.ENSP00000297991

Structurei

3D structure databases

ProteinModelPortaliQ92482
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi83 – 85NPA 13
Motifi215 – 217NPA 23

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).

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0224 Eukaryota
COG0580 LUCA
GeneTreeiENSGT00510000046311
HOGENOMiHOG000288287
HOVERGENiHBG106057
InParanoidiQ92482
KOiK09876
OMAiITSMLMG
OrthoDBiEOG091G0FMS
PhylomeDBiQ92482
TreeFamiTF313173

Family and domain databases

CDDicd00333 MIP, 1 hit
Gene3Di1.20.1080.10, 1 hit
InterProiView protein in InterPro
IPR023271 Aquaporin-like
IPR023275 Aquaporin_3
IPR000425 MIP
IPR022357 MIP_CS
PfamiView protein in Pfam
PF00230 MIP, 1 hit
PRINTSiPR02015 AQUAPORIN3
PR00783 MINTRINSICP
SUPFAMiSSF81338 SSF81338, 1 hit
TIGRFAMsiTIGR00861 MIP, 1 hit
PROSITEiView protein in PROSITE
PS00221 MIP, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q92482-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:292
Mass (Da):31,544
Last modified:November 1, 1997 - v2
Checksum:iA9555E9576EABA9C
GO
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.
Show »
Length:281
Mass (Da):29,987
Checksum:iC46894A001707CC5
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti23R → G in BAF84897 (PubMed:14702039).Curated1
Sequence conflicti137V → A in CAG46822 (Ref. 4) Curated1

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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02508943V → M1 PublicationCorresponds to variant dbSNP:rs34942735Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_003229165 – 281FIGTA…EEENV → DRPALVVGAHRVPTPGLHCG CLRVPADDRLPPGAAPTLQR GRECEAGPCEAQGADLSGKG HLPLRCPGLEHPLTVQGHSQ EAPLHDPPFQAKELPIYPHP TKTAPSGFPLDLAQIAP in isoform 2. 1 PublicationAdd BLAST117
Alternative sequenceiVSP_003230282 – 292Missing in isoform 2. 1 PublicationAdd BLAST11

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
CCDSiCCDS6542.1 [Q92482-1]
PIRiA57119
RefSeqiNP_001305073.1, NM_001318144.1
NP_004916.1, NM_004925.4 [Q92482-1]
UniGeneiHs.234642

Genome annotation databases

EnsembliENST00000297991; ENSP00000297991; ENSG00000165272 [Q92482-1]
GeneIDi360
KEGGihsa:360
UCSCiuc003zsx.4 human [Q92482-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAQP3_HUMAN
AccessioniPrimary (citable) accession number: Q92482
Secondary accession number(s): A8K843
, B2RE16, D3DRL3, O00108, Q6FGT2, Q6FGW6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: April 25, 2018
This is version 160 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Blood group antigen proteins
    Nomenclature of blood group antigens and list of entries
  2. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

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