Reviewed, UniProtKB/Swiss-Prot Q92482 (AQP3_HUMAN)

Names and origin

Protein names

Recommended name:
    Aquaporin-3
      Short name=AQP-3

Gene names

Name:

AQP3

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	292 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	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.
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.
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 process	Transport
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Transmembrane
Molecular function	Blood group antigen
PTM	Glycoprotein
Gene Ontology (GO)
Biological process	excretion Traceable author statement. Source: ProtInc positive regulation of immune system process Inferred from direct assay. Source: UniProtKB regulation of keratinocyte differentiation Traceable author statement. Source: UniProtKB response to calcium ion Traceable author statement. Source: UniProtKB response to retinoic acid Inferred from direct assay. Source: UniProtKB response to vitamin D Traceable author statement. Source: UniProtKB water transport Traceable author statement. Source: UniProtKB
Cellular component	integral to membrane Inferred by curator. Source: UniProtKB
Molecular function	glycerol channel activity Inferred from direct assay. Source: UniProtKB water channel activity Traceable author statement. Source: UniProtKB
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.

Notes: 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 key	Position(s)	Length	Description	Graphical view
Molecule processing
	Chain	1 – 292	292	Aquaporin-3
Regions
	Topological domain	1 – 28	28	Cytoplasmic Potential
	Transmembrane	29 – 49	21	Potential
	Topological domain	50 – 53	4	Extracellular Potential
	Transmembrane	54 – 74	21	Potential
	Topological domain	75 – 109	35	Cytoplasmic Potential
	Transmembrane	110 – 130	21	Potential
	Topological domain	131 – 157	27	Extracellular Potential
	Transmembrane	158 – 178	21	Potential
	Topological domain	179 – 188	10	Cytoplasmic Potential
	Transmembrane	189 – 209	21	Potential
	Topological domain	210 – 244	35	Extracellular Potential
	Transmembrane	245 – 265	21	Potential
	Topological domain	266 – 292	27	Cytoplasmic Potential
	Motif	83 – 85	3	NPA 1
	Motif	215 – 217	3	NPA 2
Amino acid modifications
	Glycosylation	141	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	165 – 281	117	FIGTA…EEENV → DRPALVVGAHRVPTPGLHCG CLRVPADDRLPPGAAPTLQR GRECEAGPCEAQGADLSGKG HLPLRCPGLEHPLTVQGHSQ EAPLHDPPFQAKELPIYPHP TKTAPSGFPLDLAQIAP in isoform 2.
	Alternative sequence	282 – 292	11	Missing in isoform 2.
	Natural variant	43	1	V → M

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1997. Version 2. Checksum: A9555E9576EABA9C	FASTA	292	31,544
	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
	Isoform 2 (delta5) [UniParc]. Checksum: C46894A001707CC5		281	29,987
	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 FFDQDRPALV VGAHRVPTPG 190 200 210 220 230 240 LHCGCLRVPA DDRLPPGAAP TLQRGRECEA GPCEAQGADL SGKGHLPLRC PGLEHPLTVQ 250 260 270 280 GHSQEAPLHD PPFQAKELPI YPHPTKTAPS GFPLDLAQIA P

References

	« Hide 'large scale' referencesShow '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: 7558005] [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: 12239222] [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]	SeattleSNPs program for genomic applications Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT MET-43.
[7]	"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. , 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: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Lung.
+	Additional computationally mapped references.

Web resources

BGMUT

Blood group antigen gene mutation database"

SeattleSNPs

Cross-references

Sequence databases
EMBLGenBankDDBJ	AB001325 mRNA. Translation: BAA19237.1. AJ493597 mRNA. Translation: CAD38526.1. CR541991 mRNA. Translation: CAG46788.1. BT007199 mRNA. Translation: AAP35863.1. DQ083949 Genomic DNA. Translation: AAY68214.1. AL356218 Genomic DNA. Translation: CAI13311.1. BC013566 mRNA. Translation: AAH13566.1.
PIR	A57119.
RefSeq	NP_004916.1.
UniGene	Hs.234642
3D structure databases
HSSP	HSSP built from PDB template 1FX8 based on UniProtKB P11244.
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000165272. Homo sapiens. [Contig view]
GeneID	360.
KEGG	hsa:360.
Organism-specific databases
H-InvDB	HIX0007981.
HGNC	HGNC:636. AQP3.
MIM	600170. gene. 607457. phenotype.
PharmGKB	PA24921.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	Q92482.
HOVERGEN	Q92482.
Gene expression databases
ArrayExpress	Q92482.
CleanEx	HS_AQP3.
GermOnline	ENSG00000165272. Homo sapiens.
Family and domain databases
InterPro	IPR012269. Aquaporin. IPR000425. MIP. [Graphical view]
Gene3D	G3DSA:1.20.1080.10. MIP. 1 hit.
PANTHER	PTHR19139. MIP. 1 hit.
Pfam	PF00230. MIP. 1 hit. [Graphical view]
PRINTS	PR00783. MINTRINSICP.
ProDom	PD000295. MIP. 1 hit. [Graphical view] [Entries sharing at least one domain]
TIGRFAMs	TIGR00861. MIP. 1 hit.
PROSITE	PS00221. MIP. 1 hit. [Graphical view]
BLOCKS	Search...
Other Resources
SOURCE	Search...
ProtoNet	Search...

Entry information

Entry name

AQP3_HUMAN

Accession

Primary (citable) accession number: Q92482
Secondary accession number(s): O00108, Q6FGW6

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	November 1, 1997
Last modified:	July 22, 2008
This is version 71 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)