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Protein

Aquaporin-6

Gene

AQP6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

Forms a water-specific channel that participates in distinct physiological functions such as glomerular filtration, tubular endocytosis and acid-base metabolism.By similarity

GO - Molecular functioni

  • anion channel activity Source: Reactome
  • nitrate transmembrane transporter activity Source: Ensembl
  • water channel activity Source: ProtInc

GO - Biological processi

  • excretion Source: ProtInc
  • ion transmembrane transport Source: GO_Central
  • odontogenesis Source: UniProtKB
  • transport Source: ProtInc
  • water transport Source: Reactome

Keywordsi

Biological processTransport

Enzyme and pathway databases

ReactomeiR-HSA-432047. Passive transport by Aquaporins.

Protein family/group databases

TCDBi1.A.8.8.4. the major intrinsic protein (mip) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Aquaporin-6
Short name:
AQP-6
Alternative name(s):
Aquaporin-2-like
Kidney-specific aquaporin
Short name:
hKID
Gene namesi
Name:AQP6
Synonyms:AQP2L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000086159.12.
HGNCiHGNC:639. AQP6.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 30CytoplasmicSequence analysisAdd BLAST30
Transmembranei31 – 48HelicalSequence analysisAdd BLAST18
Topological domaini49 – 54ExtracellularSequence analysis6
Transmembranei55 – 73HelicalSequence analysisAdd BLAST19
Topological domaini74 – 99CytoplasmicSequence analysisAdd BLAST26
Transmembranei100 – 121HelicalSequence analysisAdd BLAST22
Topological domaini122 – 141ExtracellularSequence analysisAdd BLAST20
Transmembranei142 – 162HelicalSequence analysisAdd BLAST21
Topological domaini163 – 168CytoplasmicSequence analysis6
Transmembranei169 – 188HelicalSequence analysisAdd BLAST20
Topological domaini189 – 214ExtracellularSequence analysisAdd BLAST26
Transmembranei215 – 236HelicalSequence analysisAdd BLAST22
Topological domaini237 – 282CytoplasmicSequence analysisAdd BLAST46

Keywords - Cellular componenti

Cytoplasmic vesicle, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi363.
OpenTargetsiENSG00000086159.
PharmGKBiPA24924.

Polymorphism and mutation databases

BioMutaiAQP6.
DMDMi212276421.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000639551 – 282Aquaporin-6Add BLAST282

Proteomic databases

EPDiQ13520.
PaxDbiQ13520.
PRIDEiQ13520.

PTM databases

iPTMnetiQ13520.
PhosphoSitePlusiQ13520.

Expressioni

Gene expression databases

BgeeiENSG00000086159.
CleanExiHS_AQP6.
ExpressionAtlasiQ13520. baseline and differential.
GenevisibleiQ13520. HS.

Organism-specific databases

HPAiHPA015278.

Interactioni

Protein-protein interaction databases

IntActiQ13520. 1 interactor.
STRINGi9606.ENSP00000320247.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1S6Emodel-A1-282[»]
ProteinModelPortaliQ13520.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi82 – 84NPA 13
Motifi196 – 198NPA 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.
InParanoidiQ13520.
KOiK09868.
OMAiVHWVFWV.
OrthoDBiEOG091G166T.
PhylomeDBiQ13520.
TreeFamiTF312940.

Family and domain databases

CDDicd00333. MIP. 1 hit.
Gene3Di1.20.1080.10. 1 hit.
InterProiView protein in InterPro
IPR023271. Aquaporin-like.
IPR023254. Aquaporin_6.
IPR034294. Aquaporin_transptr.
IPR000425. MIP.
IPR022357. MIP_CS.
PANTHERiPTHR19139. PTHR19139. 1 hit.
PTHR19139:SF223. PTHR19139:SF223. 1 hit.
PfamiView protein in Pfam
PF00230. MIP. 1 hit.
PRINTSiPR02018. AQUAPORIN6.
PR00783. MINTRINSICP.
SUPFAMiSSF81338. SSF81338. 1 hit.
TIGRFAMsiTIGR00861. MIP. 1 hit.
PROSITEiView protein in PROSITE
PS00221. MIP. 1 hit.

Sequencei

Sequence statusi: Complete.

Q13520-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDAVEPGGRG WASMLACRLW KAISRALFAE FLATGLYVFF GVGSVMRWPT
60 70 80 90 100
ALPSVLQIAI TFNLVTAMAV QVTWKASGAH ANPAVTLAFL VGSHISLPRA
110 120 130 140 150
VAYVAAQLVG ATVGAALLYG VMPGDIRETL GINVVRNSVS TGQAVAVELL
160 170 180 190 200
LTLQLVLCVF ASTDSRQTSG SPATMIGISV ALGHLIGIHF TGCSMNPARS
210 220 230 240 250
FGPAIIIGKF TVHWVFWVGP LMGALLASLI YNFVLFPDTK TLAQRLAILT
260 270 280
GTVEVGTGAG AGAEPLKKES QPGSGAVEME SV
Length:282
Mass (Da):29,370
Last modified:November 4, 2008 - v2
Checksum:iBDA1B3DFCA5C685E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti4 – 5VE → EV in AAB41566 (PubMed:8812490).Curated2
Sequence conflicti76A → T in AAB41566 (PubMed:8812490).Curated1
Sequence conflicti180V → W in AAB41566 (PubMed:8812490).Curated1
Sequence conflicti189H → L in AAB41566 (PubMed:8812490).Curated1
Sequence conflicti260G → R in AAB41566 (PubMed:8812490).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047233234V → I. Corresponds to variant dbSNP:rs17124220Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U48408 mRNA. Translation: AAB41566.1.
AC025154 Genomic DNA. No translation available.
CCDSiCCDS31798.1.
RefSeqiNP_001643.2. NM_001652.3.
UniGeneiHs.54505.

Genome annotation databases

EnsembliENST00000315520; ENSP00000320247; ENSG00000086159.
ENST00000615425; ENSP00000477688; ENSG00000086159.
GeneIDi363.
KEGGihsa:363.
UCSCiuc001rvr.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAQP6_HUMAN
AccessioniPrimary (citable) accession number: Q13520
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 4, 2008
Last modified: September 27, 2017
This is version 145 of the entry and version 2 of the sequence. See 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