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P55064

- AQP5_HUMAN

UniProt

P55064 - AQP5_HUMAN

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Protein

Aquaporin-5

Gene
AQP5
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

GO - Molecular functioni

  1. protein binding Source: IntAct
  2. water channel activity Source: UniProtKB

GO - Biological processi

  1. camera-type eye morphogenesis Source: Ensembl
  2. carbon dioxide transport Source: UniProtKB
  3. excretion Source: ProtInc
  4. odontogenesis Source: UniProtKB
  5. pancreatic juice secretion Source: UniProtKB
  6. saliva secretion Source: Ensembl
  7. transmembrane transport Source: Reactome
  8. water transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

ReactomeiREACT_23826. 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
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:638. AQP5.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1212Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei13 – 3321Helical; Reviewed predictionAdd
BLAST
Topological domaini34 – 363Extracellular Reviewed prediction
Transmembranei37 – 5721Helical; Reviewed predictionAdd
BLAST
Topological domaini58 – 8730Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei88 – 10821Helical; Reviewed predictionAdd
BLAST
Topological domaini109 – 12618Extracellular Reviewed predictionAdd
BLAST
Transmembranei127 – 14721Helical; Reviewed predictionAdd
BLAST
Topological domaini148 – 16114Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei162 – 18221Helical; Reviewed predictionAdd
BLAST
Topological domaini183 – 20523Extracellular Reviewed predictionAdd
BLAST
Transmembranei206 – 22621Helical; Reviewed predictionAdd
BLAST
Topological domaini227 – 26539Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. apical plasma membrane Source: UniProtKB
  2. basal plasma membrane Source: Ensembl
  3. endoplasmic reticulum Source: Ensembl
  4. extracellular vesicular exosome Source: UniProt
  5. integral component of plasma membrane Source: ProtInc
  6. microvillus Source: Ensembl
  7. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti38 – 381A → E in PPKB; retains the ability to traffic to the cell membrane. 1 Publication
VAR_070442
Natural varianti45 – 451I → S in PPKB; retains the ability to traffic to the cell membrane. 1 Publication
VAR_070443
Natural varianti123 – 1231N → D in PPKB; retains the ability to traffic to the cell membrane. 1 Publication
VAR_070444
Natural varianti177 – 1771I → F in PPKB; retains the ability to traffic to the cell membrane. 1 Publication
VAR_070445
Natural varianti188 – 1881R → C in PPKB; retains the ability to traffic to the cell membrane. 1 Publication
VAR_070446

Keywords - Diseasei

Disease mutation, Palmoplantar keratoderma

Organism-specific databases

MIMi600231. phenotype.
Orphaneti2337. Non-epidermolytic palmoplantar keratoderma.
PharmGKBiPA24923.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 265265Aquaporin-5PRO_0000063951Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi124 – 1241N-linked (GlcNAc...) Reviewed prediction
Glycosylationi125 – 1251N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP55064.
PRIDEiP55064.

PTM databases

PhosphoSiteiP55064.

Expressioni

Gene expression databases

BgeeiP55064.
CleanExiHS_AQP5.
GenevestigatoriP55064.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
MDFIQ997503EBI-746103,EBI-724076

Protein-protein interaction databases

BioGridi106858. 3 interactions.
DIPiDIP-46292N.
IntActiP55064. 4 interactions.
MINTiMINT-1442891.
STRINGi9606.ENSP00000293599.

Structurei

Secondary structure

1
265
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi2 – 54
Helixi8 – 3225
Beta strandi36 – 383
Helixi42 – 6423
Helixi70 – 789
Beta strandi80 – 823
Helixi84 – 10825
Helixi111 – 1144
Turni115 – 1184
Helixi128 – 15023
Helixi161 – 18020
Helixi186 – 19611
Helixi203 – 22321
Turni233 – 2353
Helixi236 – 2394

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3D9SX-ray2.00A/B/C/D2-265[»]
ProteinModelPortaliP55064.
SMRiP55064. Positions 2-245.

Miscellaneous databases

EvolutionaryTraceiP55064.

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi69 – 713NPA 1
Motifi185 – 1873NPA 2

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

eggNOGiCOG0580.
HOGENOMiHOG000288286.
HOVERGENiHBG000312.
InParanoidiP55064.
KOiK09867.
OMAiMNRFSPS.
OrthoDBiEOG7N8ZWD.
PhylomeDBiP55064.
TreeFamiTF312940.

Family and domain databases

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

MKKEVCSVAF LKAVFAEFLA TLIFVFFGLG SALKWPSALP TILQIALAFG    50
LAIGTLAQAL GPVSGGHINP AITLALLVGN QISLLRAFFY VAAQLVGAIA 100
GAGILYGVAP LNARGNLAVN ALNNNTTQGQ AMVVELILTF QLALCIFAST 150
DSRRTSPVGS PALSIGLSVT LGHLVGIYFT GCSMNPARSF GPAVVMNRFS 200
PAHWVFWVGP IVGAVLAAIL YFYLLFPNSL SLSERVAIIK GTYEPDEDWE 250
EQREERKKTM ELTTR 265
Length:265
Mass (Da):28,292
Last modified:October 1, 1996 - v1
Checksum:i053C10E6A17EAFDA
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti38 – 381A → E in PPKB; retains the ability to traffic to the cell membrane. 1 Publication
VAR_070442
Natural varianti45 – 451I → S in PPKB; retains the ability to traffic to the cell membrane. 1 Publication
VAR_070443
Natural varianti123 – 1231N → D in PPKB; retains the ability to traffic to the cell membrane. 1 Publication
VAR_070444
Natural varianti177 – 1771I → F in PPKB; retains the ability to traffic to the cell membrane. 1 Publication
VAR_070445
Natural varianti188 – 1881R → C in PPKB; retains the ability to traffic to the cell membrane. 1 Publication
VAR_070446

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human.

Polymorphism databases

DMDMi1703358.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS8793.1.
RefSeqi NP_001642.1. NM_001651.3.
UniGenei Hs.298023.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3D9S X-ray 2.00 A/B/C/D 2-265 [» ]
ProteinModelPortali P55064.
SMRi P55064. Positions 2-245.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 106858. 3 interactions.
DIPi DIP-46292N.
IntActi P55064. 4 interactions.
MINTi MINT-1442891.
STRINGi 9606.ENSP00000293599.

Chemistry

GuidetoPHARMACOLOGYi 692.

Protein family/group databases

TCDBi 1.A.8.8.9. the major intrinsic protein (mip) family.

PTM databases

PhosphoSitei P55064.

Polymorphism databases

DMDMi 1703358.

Proteomic databases

PaxDbi P55064.
PRIDEi P55064.

Protocols and materials databases

DNASUi 362.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000293599 ; ENSP00000293599 ; ENSG00000161798 .
GeneIDi 362.
KEGGi hsa:362.
UCSCi uc001rvo.3. human.

Organism-specific databases

CTDi 362.
GeneCardsi GC12P050411.
HGNCi HGNC:638. AQP5.
MIMi 600231. phenotype.
600442. gene.
neXtProti NX_P55064.
Orphaneti 2337. Non-epidermolytic palmoplantar keratoderma.
PharmGKBi PA24923.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0580.
HOGENOMi HOG000288286.
HOVERGENi HBG000312.
InParanoidi P55064.
KOi K09867.
OMAi MNRFSPS.
OrthoDBi EOG7N8ZWD.
PhylomeDBi P55064.
TreeFami TF312940.

Enzyme and pathway databases

Reactomei REACT_23826. Passive transport by Aquaporins.

Miscellaneous databases

EvolutionaryTracei P55064.
GeneWikii AQP5.
GenomeRNAii 362.
NextBioi 1515.
PROi P55064.
SOURCEi Search...

Gene expression databases

Bgeei P55064.
CleanExi HS_AQP5.
Genevestigatori P55064.

Family and domain databases

Gene3Di 1.20.1080.10. 1 hit.
InterProi IPR023271. Aquaporin-like.
IPR023276. Aquaporin_5.
IPR000425. MIP.
IPR022357. MIP_CS.
[Graphical view ]
PANTHERi PTHR19139. PTHR19139. 1 hit.
Pfami PF00230. MIP. 1 hit.
[Graphical view ]
PRINTSi PR02017. AQUAPORIN5.
PR00783. MINTRINSICP.
SUPFAMi SSF81338. SSF81338. 1 hit.
TIGRFAMsi TIGR00861. MIP. 1 hit.
PROSITEi PS00221. MIP. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

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: September 3, 2014
This is version 121 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

External Data

Dasty 3

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