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P55064 (AQP5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 120. 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·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Aquaporin-5

Short name=AQP-5
Gene names
Name:AQP5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length265 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Forms a water-specific channel. Implicated in the generation of saliva, tears, and pulmonary secretions.

Subcellular location

Membrane; Multi-pass membrane protein.

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).

Involvement in disease

Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231]: A dermatological disorder characterized by diffuse non-epidermolytic hyperkeratosis of the skin of palms and soles. PPKB is frequently complicated by fungal infections.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

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

Ontologies

Keywords
   Biological processTransport
   Cellular componentMembrane
   DiseaseDisease mutation
Palmoplantar keratoderma
   DomainRepeat
Transmembrane
Transmembrane helix
   PTMGlycoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcamera-type eye morphogenesis

Inferred from electronic annotation. Source: Ensembl

carbon dioxide transport

Inferred from direct assay PubMed 19273840. Source: UniProtKB

excretion

Traceable author statement Ref.1. Source: ProtInc

odontogenesis

Inferred from expression pattern PubMed 12522663. Source: UniProtKB

pancreatic juice secretion

Inferred from expression pattern PubMed 12801959. Source: UniProtKB

saliva secretion

Inferred from electronic annotation. Source: Ensembl

transmembrane transport

Traceable author statement. Source: Reactome

water transport

Traceable author statement. Source: Reactome

   Cellular_componentapical plasma membrane

Inferred from direct assay PubMed 12801959. Source: UniProtKB

basal plasma membrane

Inferred from electronic annotation. Source: Ensembl

endoplasmic reticulum

Inferred from electronic annotation. Source: Ensembl

extracellular vesicular exosome

Inferred from direct assay PubMed 19199708. Source: UniProt

integral component of plasma membrane

Traceable author statement Ref.1. Source: ProtInc

microvillus

Inferred from electronic annotation. Source: Ensembl

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionprotein binding

Inferred from physical interaction PubMed 16189514PubMed 19060904. Source: IntAct

water channel activity

Inferred from direct assay PubMed 12801959. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

MDFIQ997503EBI-746103,EBI-724076

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 265265Aquaporin-5
PRO_0000063951

Regions

Topological domain1 – 1212Cytoplasmic Potential
Transmembrane13 – 3321Helical; Potential
Topological domain34 – 363Extracellular Potential
Transmembrane37 – 5721Helical; Potential
Topological domain58 – 8730Cytoplasmic Potential
Transmembrane88 – 10821Helical; Potential
Topological domain109 – 12618Extracellular Potential
Transmembrane127 – 14721Helical; Potential
Topological domain148 – 16114Cytoplasmic Potential
Transmembrane162 – 18221Helical; Potential
Topological domain183 – 20523Extracellular Potential
Transmembrane206 – 22621Helical; Potential
Topological domain227 – 26539Cytoplasmic Potential
Motif69 – 713NPA 1
Motif185 – 1873NPA 2

Amino acid modifications

Glycosylation1241N-linked (GlcNAc...) Potential
Glycosylation1251N-linked (GlcNAc...) Potential

Natural variations

Natural variant381A → E in PPKB; retains the ability to traffic to the cell membrane. Ref.4
VAR_070442
Natural variant451I → S in PPKB; retains the ability to traffic to the cell membrane. Ref.4
VAR_070443
Natural variant1231N → D in PPKB; retains the ability to traffic to the cell membrane. Ref.4
VAR_070444
Natural variant1771I → F in PPKB; retains the ability to traffic to the cell membrane. Ref.4
VAR_070445
Natural variant1881R → C in PPKB; retains the ability to traffic to the cell membrane. Ref.4
VAR_070446

Secondary structure

............................. 265
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P55064 [UniParc].

Last modified October 1, 1996. Version 1.
Checksum: 053C10E6A17EAFDA

FASTA26528,292
        10         20         30         40         50         60 
MKKEVCSVAF LKAVFAEFLA TLIFVFFGLG SALKWPSALP TILQIALAFG LAIGTLAQAL 

        70         80         90        100        110        120 
GPVSGGHINP AITLALLVGN QISLLRAFFY VAAQLVGAIA GAGILYGVAP LNARGNLAVN 

       130        140        150        160        170        180 
ALNNNTTQGQ AMVVELILTF QLALCIFAST DSRRTSPVGS PALSIGLSVT LGHLVGIYFT 

       190        200        210        220        230        240 
GCSMNPARSF GPAVVMNRFS PAHWVFWVGP IVGAVLAAIL YFYLLFPNSL SLSERVAIIK 

       250        260 
GTYEPDEDWE EQREERKKTM ELTTR 

« Hide

References

« Hide 'large scale' references
[1]"The human aquaporin-5 gene. Molecular characterization and chromosomal localization."
Lee M.D., Bhakta K.Y., Raina S., Yonescu R., Griffin C.A., Copeland N.G., Gilbert D.J., Jenkins N.A., Preston G.M., Agre P.
J. Biol. Chem. 271:8599-8604(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]"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].
Tissue: Testis.
[4]"Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma."
Blaydon D.C., Lind L.K., Plagnol V., Linton K.J., Smith F.J., Wilson N.J., McLean W.H., Munro C.S., South A.P., Leigh I.M., O'Toole E.A., Lundstroem A., Kelsell D.P.
Am. J. Hum. Genet. 93:330-335(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PPKB GLU-38; SER-45; ASP-123; PHE-177 AND CYS-188, CHARACTERIZATION OF VARIANTS GLU-38; SER-45; ASP-123; PHE-177 AND CYS-188.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U46569 expand/collapse EMBL AC list , U46566, U46567, U46568 Genomic DNA. Translation: AAC50474.1.
CR541989 mRNA. Translation: CAG46786.1.
CR542022 mRNA. Translation: CAG46819.1.
BC032946 mRNA. Translation: AAH32946.1.
CCDSCCDS8793.1.
RefSeqNP_001642.1. NM_001651.3.
UniGeneHs.298023.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3D9SX-ray2.00A/B/C/D2-265[»]
ProteinModelPortalP55064.
SMRP55064. Positions 2-245.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid106858. 3 interactions.
DIPDIP-46292N.
IntActP55064. 4 interactions.
MINTMINT-1442891.
STRING9606.ENSP00000293599.

Chemistry

GuidetoPHARMACOLOGY692.

Protein family/group databases

TCDB1.A.8.8.9. the major intrinsic protein (mip) family.

PTM databases

PhosphoSiteP55064.

Polymorphism databases

DMDM1703358.

Proteomic databases

PaxDbP55064.
PRIDEP55064.

Protocols and materials databases

DNASU362.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000293599; ENSP00000293599; ENSG00000161798.
GeneID362.
KEGGhsa:362.
UCSCuc001rvo.3. human.

Organism-specific databases

CTD362.
GeneCardsGC12P050411.
HGNCHGNC:638. AQP5.
MIM600231. phenotype.
600442. gene.
neXtProtNX_P55064.
Orphanet2337. Non-epidermolytic palmoplantar keratoderma.
PharmGKBPA24923.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0580.
HOGENOMHOG000288286.
HOVERGENHBG000312.
InParanoidP55064.
KOK09867.
OMAMNRFSPS.
OrthoDBEOG7N8ZWD.
PhylomeDBP55064.
TreeFamTF312940.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

BgeeP55064.
CleanExHS_AQP5.
GenevestigatorP55064.

Family and domain databases

Gene3D1.20.1080.10. 1 hit.
InterProIPR023271. Aquaporin-like.
IPR023276. Aquaporin_5.
IPR000425. MIP.
IPR022357. MIP_CS.
[Graphical view]
PANTHERPTHR19139. PTHR19139. 1 hit.
PfamPF00230. MIP. 1 hit.
[Graphical view]
PRINTSPR02017. AQUAPORIN5.
PR00783. MINTRINSICP.
SUPFAMSSF81338. SSF81338. 1 hit.
TIGRFAMsTIGR00861. MIP. 1 hit.
PROSITEPS00221. MIP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceP55064.
GeneWikiAQP5.
GenomeRNAi362.
NextBio1515.
PROP55064.
SOURCESearch...

Entry information

Entry nameAQP5_HUMAN
AccessionPrimary (citable) accession number: P55064
Secondary accession number(s): Q6FGW8
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: July 9, 2014
This is version 120 of the entry and version 1 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

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 12

Human chromosome 12: entries, gene names and cross-references to MIM