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Protein

Aquaporin-5

Gene

AQP5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Forms a water-specific channel. Implicated in the generation of saliva, tears, and pulmonary secretions. Required for TRPV4 activation by hypotonicity (PubMed:16571723). Together with TRPV4, controls regulatory volume decrease in salivary epithelial cells (PubMed:16571723).1 Publication

GO - Molecular functioni

  • glycerol channel activity Source: GO_Central
  • water channel activity Source: UniProtKB

GO - Biological processi

  • camera-type eye morphogenesis Source: Ensembl
  • carbon dioxide transport Source: UniProtKB
  • cellular water homeostasis Source: GO_Central
  • excretion Source: ProtInc
  • ion transmembrane transport Source: GO_Central
  • odontogenesis Source: UniProtKB
  • pancreatic juice secretion Source: UniProtKB
  • saliva secretion Source: Ensembl
  • water transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000161798-MONOMER.
ReactomeiR-HSA-432047. Passive transport by Aquaporins.

Protein family/group databases

TCDBi1.A.8.8.9. the major intrinsic protein (mip) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Aquaporin-5
Short name:
AQP-5
Gene namesi
Name:AQP5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:638. AQP5.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 12CytoplasmicSequence analysisAdd BLAST12
Transmembranei13 – 33HelicalSequence analysisAdd BLAST21
Topological domaini34 – 36ExtracellularSequence analysis3
Transmembranei37 – 57HelicalSequence analysisAdd BLAST21
Topological domaini58 – 87CytoplasmicSequence analysisAdd BLAST30
Transmembranei88 – 108HelicalSequence analysisAdd BLAST21
Topological domaini109 – 126ExtracellularSequence analysisAdd BLAST18
Transmembranei127 – 147HelicalSequence analysisAdd BLAST21
Topological domaini148 – 161CytoplasmicSequence analysisAdd BLAST14
Transmembranei162 – 182HelicalSequence analysisAdd BLAST21
Topological domaini183 – 205ExtracellularSequence analysisAdd BLAST23
Transmembranei206 – 226HelicalSequence analysisAdd BLAST21
Topological domaini227 – 265CytoplasmicSequence analysisAdd BLAST39

GO - Cellular componenti

  • apical plasma membrane Source: UniProtKB
  • basal plasma membrane Source: Ensembl
  • endoplasmic reticulum Source: Ensembl
  • extracellular exosome Source: UniProtKB
  • integral component of plasma membrane Source: ProtInc
  • microvillus Source: Ensembl
  • plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Keratoderma, palmoplantar, Bothnian type (PPKB)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA dermatological disorder characterized by diffuse non-epidermolytic hyperkeratosis of the skin of palms and soles. PPKB is frequently complicated by fungal infections.
See also OMIM:600231
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07044238A → E in PPKB; retains the ability to traffic to the cell membrane. 1 PublicationCorresponds to variant rs398123054dbSNPEnsembl.1
Natural variantiVAR_07044345I → S in PPKB; retains the ability to traffic to the cell membrane. 1 PublicationCorresponds to variant rs398123055dbSNPEnsembl.1
Natural variantiVAR_070444123N → D in PPKB; retains the ability to traffic to the cell membrane. 1 PublicationCorresponds to variant rs398123057dbSNPEnsembl.1
Natural variantiVAR_070445177I → F in PPKB; retains the ability to traffic to the cell membrane. 1 PublicationCorresponds to variant rs398123056dbSNPEnsembl.1
Natural variantiVAR_070446188R → C in PPKB; retains the ability to traffic to the cell membrane. 1 PublicationCorresponds to variant rs368292687dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Palmoplantar keratoderma

Organism-specific databases

DisGeNETi362.
MalaCardsiAQP5.
MIMi600231. phenotype.
OpenTargetsiENSG00000161798.
Orphaneti2337. Non-epidermolytic palmoplantar keratoderma.
PharmGKBiPA24923.

Polymorphism and mutation databases

DMDMi1703358.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000639511 – 265Aquaporin-5Add BLAST265

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi124N-linked (GlcNAc...)Sequence analysis1
Glycosylationi125N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP55064.
PeptideAtlasiP55064.
PRIDEiP55064.

PTM databases

iPTMnetiP55064.
PhosphoSitePlusiP55064.

Expressioni

Gene expression databases

BgeeiENSG00000161798.
CleanExiHS_AQP5.
GenevisibleiP55064. HS.

Organism-specific databases

HPAiHPA065008.

Interactioni

Subunit structurei

Interacts with TRPV4; the interaction is probably indirect and regulates TRPV4 activation by hypotonicity.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
HNRPKQ6IBN13EBI-746103,EBI-3440248
KRT31Q153233EBI-746103,EBI-948001
KRT40Q6A1623EBI-746103,EBI-10171697
MDFIQ997503EBI-746103,EBI-724076
NOTCH2NLQ7Z3S93EBI-746103,EBI-945833

Protein-protein interaction databases

BioGridi106858. 8 interactors.
DIPiDIP-46292N.
IntActiP55064. 8 interactors.
MINTiMINT-1442891.
STRINGi9606.ENSP00000293599.

Structurei

Secondary structure

1265
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi2 – 5Combined sources4
Helixi8 – 32Combined sources25
Beta strandi36 – 38Combined sources3
Helixi42 – 64Combined sources23
Helixi70 – 78Combined sources9
Beta strandi80 – 82Combined sources3
Helixi84 – 108Combined sources25
Helixi111 – 114Combined sources4
Turni115 – 118Combined sources4
Beta strandi124 – 126Combined sources3
Helixi128 – 150Combined sources23
Helixi161 – 180Combined sources20
Helixi186 – 196Combined sources11
Helixi203 – 223Combined sources21
Turni233 – 235Combined sources3
Helixi236 – 239Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3D9SX-ray2.00A/B/C/D2-265[»]
5C5XX-ray2.60A/B/C/D/E/F/G/H1-245[»]
5DYEX-ray3.50A/B/C/D1-265[»]
ProteinModelPortaliP55064.
SMRiP55064.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP55064.

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi69 – 71NPA 13
Motifi185 – 187NPA 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

eggNOGiKOG0223. Eukaryota.
COG0580. LUCA.
GeneTreeiENSGT00760000119223.
HOGENOMiHOG000288286.
HOVERGENiHBG000312.
InParanoidiP55064.
KOiK09867.
OMAiNISGCHV.
OrthoDBiEOG091G166T.
PhylomeDBiP55064.
TreeFamiTF312940.

Family and domain databases

CDDicd00333. MIP. 1 hit.
Gene3Di1.20.1080.10. 1 hit.
InterProiIPR023271. Aquaporin-like.
IPR023276. Aquaporin_5.
IPR000425. MIP.
IPR022357. MIP_CS.
[Graphical view]
PANTHERiPTHR19139. PTHR19139. 1 hit.
PfamiPF00230. MIP. 1 hit.
[Graphical view]
PRINTSiPR02017. AQUAPORIN5.
PR00783. MINTRINSICP.
SUPFAMiSSF81338. SSF81338. 1 hit.
TIGRFAMsiTIGR00861. MIP. 1 hit.
PROSITEiPS00221. MIP. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P55064-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKKEVCSVAF LKAVFAEFLA TLIFVFFGLG SALKWPSALP TILQIALAFG
60 70 80 90 100
LAIGTLAQAL GPVSGGHINP AITLALLVGN QISLLRAFFY VAAQLVGAIA
110 120 130 140 150
GAGILYGVAP LNARGNLAVN ALNNNTTQGQ AMVVELILTF QLALCIFAST
160 170 180 190 200
DSRRTSPVGS PALSIGLSVT LGHLVGIYFT GCSMNPARSF GPAVVMNRFS
210 220 230 240 250
PAHWVFWVGP IVGAVLAAIL YFYLLFPNSL SLSERVAIIK GTYEPDEDWE
260
EQREERKKTM ELTTR
Length:265
Mass (Da):28,292
Last modified:October 1, 1996 - v1
Checksum:i053C10E6A17EAFDA
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07044238A → E in PPKB; retains the ability to traffic to the cell membrane. 1 PublicationCorresponds to variant rs398123054dbSNPEnsembl.1
Natural variantiVAR_07044345I → S in PPKB; retains the ability to traffic to the cell membrane. 1 PublicationCorresponds to variant rs398123055dbSNPEnsembl.1
Natural variantiVAR_070444123N → D in PPKB; retains the ability to traffic to the cell membrane. 1 PublicationCorresponds to variant rs398123057dbSNPEnsembl.1
Natural variantiVAR_070445177I → F in PPKB; retains the ability to traffic to the cell membrane. 1 PublicationCorresponds to variant rs398123056dbSNPEnsembl.1
Natural variantiVAR_070446188R → C in PPKB; retains the ability to traffic to the cell membrane. 1 PublicationCorresponds to variant rs368292687dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U46569
, U46566, U46567, U46568 Genomic DNA. Translation: AAC50474.1.
CR541989 mRNA. Translation: CAG46786.1.
CR542022 mRNA. Translation: CAG46819.1.
BC032946 mRNA. Translation: AAH32946.1.
CCDSiCCDS8793.1.
RefSeqiNP_001642.1. NM_001651.3.
UniGeneiHs.298023.

Genome annotation databases

EnsembliENST00000293599; ENSP00000293599; ENSG00000161798.
GeneIDi362.
KEGGihsa:362.
UCSCiuc001rvo.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U46569
, U46566, U46567, U46568 Genomic DNA. Translation: AAC50474.1.
CR541989 mRNA. Translation: CAG46786.1.
CR542022 mRNA. Translation: CAG46819.1.
BC032946 mRNA. Translation: AAH32946.1.
CCDSiCCDS8793.1.
RefSeqiNP_001642.1. NM_001651.3.
UniGeneiHs.298023.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3D9SX-ray2.00A/B/C/D2-265[»]
5C5XX-ray2.60A/B/C/D/E/F/G/H1-245[»]
5DYEX-ray3.50A/B/C/D1-265[»]
ProteinModelPortaliP55064.
SMRiP55064.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106858. 8 interactors.
DIPiDIP-46292N.
IntActiP55064. 8 interactors.
MINTiMINT-1442891.
STRINGi9606.ENSP00000293599.

Protein family/group databases

TCDBi1.A.8.8.9. the major intrinsic protein (mip) family.

PTM databases

iPTMnetiP55064.
PhosphoSitePlusiP55064.

Polymorphism and mutation databases

DMDMi1703358.

Proteomic databases

PaxDbiP55064.
PeptideAtlasiP55064.
PRIDEiP55064.

Protocols and materials databases

DNASUi362.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000293599; ENSP00000293599; ENSG00000161798.
GeneIDi362.
KEGGihsa:362.
UCSCiuc001rvo.4. human.

Organism-specific databases

CTDi362.
DisGeNETi362.
GeneCardsiAQP5.
HGNCiHGNC:638. AQP5.
HPAiHPA065008.
MalaCardsiAQP5.
MIMi600231. phenotype.
600442. gene.
neXtProtiNX_P55064.
OpenTargetsiENSG00000161798.
Orphaneti2337. Non-epidermolytic palmoplantar keratoderma.
PharmGKBiPA24923.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0223. Eukaryota.
COG0580. LUCA.
GeneTreeiENSGT00760000119223.
HOGENOMiHOG000288286.
HOVERGENiHBG000312.
InParanoidiP55064.
KOiK09867.
OMAiNISGCHV.
OrthoDBiEOG091G166T.
PhylomeDBiP55064.
TreeFamiTF312940.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000161798-MONOMER.
ReactomeiR-HSA-432047. Passive transport by Aquaporins.

Miscellaneous databases

EvolutionaryTraceiP55064.
GeneWikiiAQP5.
GenomeRNAii362.
PROiP55064.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000161798.
CleanExiHS_AQP5.
GenevisibleiP55064. HS.

Family and domain databases

CDDicd00333. MIP. 1 hit.
Gene3Di1.20.1080.10. 1 hit.
InterProiIPR023271. Aquaporin-like.
IPR023276. Aquaporin_5.
IPR000425. MIP.
IPR022357. MIP_CS.
[Graphical view]
PANTHERiPTHR19139. PTHR19139. 1 hit.
PfamiPF00230. MIP. 1 hit.
[Graphical view]
PRINTSiPR02017. AQUAPORIN5.
PR00783. MINTRINSICP.
SUPFAMiSSF81338. SSF81338. 1 hit.
TIGRFAMsiTIGR00861. MIP. 1 hit.
PROSITEiPS00221. MIP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAQP5_HUMAN
AccessioniPrimary (citable) accession number: P55064
Secondary accession number(s): Q6FGW8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: November 2, 2016
This is version 142 of the entry and version 1 of the sequence. [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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.