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Protein

Aquaporin-6

Gene

AQP6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

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

GO - Biological processi

  • excretion Source: ProtInc
  • odontogenesis Source: UniProtKB

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
MIMi601383 gene
neXtProtiNX_Q13520

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

PaxDbiQ13520
PRIDEiQ13520
ProteomicsDBi59516

PTM databases

iPTMnetiQ13520
PhosphoSitePlusiQ13520

Expressioni

Gene expression databases

BgeeiENSG00000086159 Expressed in 122 organ(s), highest expression level in cortex of kidney
CleanExiHS_AQP6
ExpressionAtlasiQ13520 baseline and differential
GenevisibleiQ13520 HS

Organism-specific databases

HPAiHPA015278

Interactioni

Protein-protein interaction databases

IntActiQ13520, 244 interactors
STRINGi9606.ENSP00000320247

Structurei

3D structure databases

ProteinModelPortaliQ13520
SMRiQ13520
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:SF113 PTHR19139:SF113, 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

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q9NSV5Q9NSV5_HUMAN
Aquaporin-6
AQP6 DKFZp434D2030
163Annotation score:
F8VW87F8VW87_HUMAN
Aquaporin-6
AQP6
108Annotation score:

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

Cross-referencesi

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

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1S6Emodel-A1-282[»]
ProteinModelPortaliQ13520
SMRiQ13520
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ13520, 244 interactors
STRINGi9606.ENSP00000320247

Protein family/group databases

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

PTM databases

iPTMnetiQ13520
PhosphoSitePlusiQ13520

Polymorphism and mutation databases

BioMutaiAQP6
DMDMi212276421

Proteomic databases

PaxDbiQ13520
PRIDEiQ13520
ProteomicsDBi59516

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi363
DisGeNETi363
EuPathDBiHostDB:ENSG00000086159.12
GeneCardsiAQP6
HGNCiHGNC:639 AQP6
HPAiHPA015278
MIMi601383 gene
neXtProtiNX_Q13520
OpenTargetsiENSG00000086159
PharmGKBiPA24924
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0223 Eukaryota
COG0580 LUCA
GeneTreeiENSGT00760000119223
HOGENOMiHOG000288286
HOVERGENiHBG000312
InParanoidiQ13520
KOiK09868
OMAiVHWVFWV
OrthoDBiEOG091G166T
PhylomeDBiQ13520
TreeFamiTF312940

Enzyme and pathway databases

ReactomeiR-HSA-432047 Passive transport by Aquaporins

Miscellaneous databases

GeneWikiiAQP6
GenomeRNAii363
PROiPR:Q13520
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000086159 Expressed in 122 organ(s), highest expression level in cortex of kidney
CleanExiHS_AQP6
ExpressionAtlasiQ13520 baseline and differential
GenevisibleiQ13520 HS

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:SF113 PTHR19139:SF113, 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
ProtoNetiSearch...

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: November 7, 2018
This is version 153 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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