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Q92482 (AQP3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 128. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Aquaporin-3

Short name=AQP-3
Alternative name(s):
Aquaglyceroporin-3
Gene names
Name:AQP3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length292 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

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.

Subcellular location

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

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.

Induction

Up-regulated by magnesium. Ref.11

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).

Polymorphism

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

Sequence similarities

Belongs to the MIP/aquaporin (TC 1.A.8) family. [View classification]

Ontologies

Keywords
   Biological processTransport
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Transmembrane
Transmembrane helix
   Molecular functionBlood group antigen
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processexcretion

Traceable author statement PubMed 7543093. Source: ProtInc

odontogenesis

Inferred from expression pattern PubMed 12522663. Source: UniProtKB

positive regulation of immune system process

Inferred from direct assay PubMed 17943189. Source: BHF-UCL

regulation of keratinocyte differentiation

Traceable author statement PubMed 17943189. Source: BHF-UCL

renal water absorption

Inferred from electronic annotation. Source: Ensembl

response to calcium ion

Traceable author statement PubMed 17943189. Source: BHF-UCL

response to retinoic acid

Inferred from direct assay PubMed 17943189. Source: BHF-UCL

response to vitamin D

Traceable author statement PubMed 17943189. Source: BHF-UCL

transmembrane transport

Traceable author statement. Source: Reactome

transport

Non-traceable author statement PubMed 7543093. Source: ProtInc

urea transport

Inferred from electronic annotation. Source: Ensembl

water transport

Traceable author statement PubMed 17943189. Source: BHF-UCL

   Cellular_componentbasolateral plasma membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

cell-cell junction

Inferred from direct assay PubMed 18718702. Source: UniProtKB

cytoplasm

Inferred from direct assay PubMed 18718702PubMed 19545896. Source: UniProtKB

integral component of membrane

Inferred by curator PubMed 17943189. Source: BHF-UCL

plasma membrane

Inferred from direct assay PubMed 14521551PubMed 18718702PubMed 19545896. Source: UniProtKB

   Molecular_functionglycerol channel activity

Inferred from direct assay PubMed 17943189. Source: BHF-UCL

transporter activity

Non-traceable author statement PubMed 7543093. Source: ProtInc

water channel activity

Traceable author statement PubMed 17943189. Source: BHF-UCL

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q92482-1)

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.
Isoform 2 (identifier: Q92482-2)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 292292Aquaporin-3
PRO_0000063943

Regions

Topological domain1 – 2828Cytoplasmic Potential
Transmembrane29 – 4921Helical; Potential
Topological domain50 – 534Extracellular Potential
Transmembrane54 – 7421Helical; Potential
Topological domain75 – 10935Cytoplasmic Potential
Transmembrane110 – 13021Helical; Potential
Topological domain131 – 15727Extracellular Potential
Transmembrane158 – 17821Helical; Potential
Topological domain179 – 18810Cytoplasmic Potential
Transmembrane189 – 20921Helical; Potential
Topological domain210 – 24435Extracellular Potential
Transmembrane245 – 26521Helical; Potential
Topological domain266 – 29227Cytoplasmic Potential
Motif83 – 853NPA 1
Motif215 – 2173NPA 2

Amino acid modifications

Glycosylation1411N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence165 – 281117FIGTA…EEENV → DRPALVVGAHRVPTPGLHCG CLRVPADDRLPPGAAPTLQR GRECEAGPCEAQGADLSGKG HLPLRCPGLEHPLTVQGHSQ EAPLHDPPFQAKELPIYPHP TKTAPSGFPLDLAQIAP in isoform 2.
VSP_003229
Alternative sequence282 – 29211Missing in isoform 2.
VSP_003230
Natural variant431V → M. Ref.7
Corresponds to variant rs34942735 [ dbSNP | Ensembl ].
VAR_025089

Experimental info

Sequence conflict231R → G in BAF84897. Ref.6
Sequence conflict1371V → A in CAG46822. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1997. Version 2.
Checksum: A9555E9576EABA9C

FASTA29231,544
        10         20         30         40         50         60 
MGRQKELVSR CGEMLHIRYR LLRQALAECL GTLILVMFGC GSVAQVVLSR GTHGGFLTIN 

        70         80         90        100        110        120 
LAFGFAVTLG ILIAGQVSGA HLNPAVTFAM CFLAREPWIK LPIYTLAQTL GAFLGAGIVF 

       130        140        150        160        170        180 
GLYYDAIWHF ADNQLFVSGP NGTAGIFATY PSGHLDMING FFDQFIGTAS LIVCVLAIVD 

       190        200        210        220        230        240 
PYNNPVPRGL EAFTVGLVVL VIGTSMGFNS GYAVNPARDF GPRLFTALAG WGSAVFTTGQ 

       250        260        270        280        290 
HWWWVPIVSP LLGSIAGVFV YQLMIGCHLE QPPPSNEEEN VKLAHVKHKE QI 

« Hide

Isoform 2 (delta5) [UniParc].

Checksum: C46894A001707CC5
Show »

FASTA28129,987

References

« Hide 'large scale' references
[1]"Structure and chromosomal localization of a human water channel (AQP3) gene."
Ishibashi K., Sasaki S., Saito F., Ikeuchi T., Marumo F.
Genomics 27:352-354(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Kidney.
[2]Ishibashi K.
Submitted (OCT-1996) to the EMBL/GenBank/DDBJ databases
Cited for: SEQUENCE REVISION TO 91; 96 AND 186.
[3]"AQP3 deficiency in humans and the molecular basis of a novel blood group system, GIL."
Roudier N., Ripoche P., Gane P., Le Pennec P.Y., Daniels G., Cartron J.-P., Bailly P.
J. Biol. Chem. 277:45854-45859(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), GIL BLOOD GROUP SYSTEM.
Tissue: Blood.
[4]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[5]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[6]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Esophagus and Trachea.
[7]SeattleSNPs variation discovery resource
Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT MET-43.
[8]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[10]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Lung.
[11]"Regulation of aquaporin 3 expression by magnesium ion."
Okahira M., Kubota M., Iguchi K., Usui S., Hirano K.
Eur. J. Pharmacol. 588:26-32(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INDUCTION.
+Additional computationally mapped references.

Web resources

dbRBC/BGMUT

Blood group antigen gene mutation database

SeattleSNPs

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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. Translation: CAI13311.1.
CH471071 Genomic DNA. Translation: EAW58500.1.
CH471071 Genomic DNA. Translation: EAW58504.1.
BC013566 mRNA. Translation: AAH13566.1.
PIRA57119.
RefSeqNP_004916.1. NM_004925.4.
UniGeneHs.234642.

3D structure databases

ProteinModelPortalQ92482.
SMRQ92482. Positions 24-269.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid106856. 3 interactions.
IntActQ92482. 1 interaction.
STRING9606.ENSP00000297991.

Chemistry

GuidetoPHARMACOLOGY690.

Polymorphism databases

DMDM2497938.

Proteomic databases

PaxDbQ92482.
PRIDEQ92482.

Protocols and materials databases

DNASU360.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000297991; ENSP00000297991; ENSG00000165272. [Q92482-1]
GeneID360.
KEGGhsa:360.
UCSCuc003zsx.3. human. [Q92482-1]
uc010mju.3. human. [Q92482-2]

Organism-specific databases

CTD360.
GeneCardsGC09M033431.
HGNCHGNC:636. AQP3.
HPAHPA014924.
MIM600170. gene.
607457. phenotype.
neXtProtNX_Q92482.
PharmGKBPA24921.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0580.
HOGENOMHOG000288287.
HOVERGENHBG106057.
InParanoidQ92482.
KOK09876.
OMASAGWIVI.
OrthoDBEOG7J9VPP.
PhylomeDBQ92482.
TreeFamTF313173.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

BgeeQ92482.
CleanExHS_AQP3.
GenevestigatorQ92482.

Family and domain databases

Gene3D1.20.1080.10. 1 hit.
InterProIPR023271. Aquaporin-like.
IPR023275. Aquaporin_3.
IPR000425. MIP.
IPR022357. MIP_CS.
[Graphical view]
PANTHERPTHR19139. PTHR19139. 1 hit.
PfamPF00230. MIP. 1 hit.
[Graphical view]
PRINTSPR02015. AQUAPORIN3.
PR00783. MINTRINSICP.
SUPFAMSSF81338. SSF81338. 1 hit.
TIGRFAMsTIGR00861. MIP. 1 hit.
PROSITEPS00221. MIP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSAQP3. human.
GeneWikiAquaporin_3.
GenomeRNAi360.
NextBio1505.
PROQ92482.
SOURCESearch...

Entry information

Entry nameAQP3_HUMAN
AccessionPrimary (citable) accession number: Q92482
Secondary accession number(s): A8K843 expand/collapse secondary AC list , B2RE16, D3DRL3, O00108, Q6FGT2, Q6FGW6
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: April 16, 2014
This is version 128 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM

Blood group antigen proteins

Nomenclature of blood group antigens and list of entries