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Q13520 (AQP6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 116. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Aquaporin-6

Short name=AQP-6
Alternative name(s):
Aquaporin-2-like
Kidney-specific aquaporin
Short name=hKID
Gene names
Name:AQP6
Synonyms:AQP2L
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length282 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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

Subcellular location

Cytoplasmic vesicle membrane; Multi-pass membrane protein By similarity.

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).

Sequence similarities

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 282282Aquaporin-6
PRO_0000063955

Regions

Topological domain1 – 3030Cytoplasmic Potential
Transmembrane31 – 4818Helical; Potential
Topological domain49 – 546Extracellular Potential
Transmembrane55 – 7319Helical; Potential
Topological domain74 – 9926Cytoplasmic Potential
Transmembrane100 – 12122Helical; Potential
Topological domain122 – 14120Extracellular Potential
Transmembrane142 – 16221Helical; Potential
Topological domain163 – 1686Cytoplasmic Potential
Transmembrane169 – 18820Helical; Potential
Topological domain189 – 21426Extracellular Potential
Transmembrane215 – 23622Helical; Potential
Topological domain237 – 28246Cytoplasmic Potential
Motif82 – 843NPA 1
Motif196 – 1983NPA 2

Natural variations

Natural variant2341V → I.
Corresponds to variant rs17124220 [ dbSNP | Ensembl ].
VAR_047233

Experimental info

Sequence conflict4 – 52VE → EV in AAB41566. Ref.1
Sequence conflict761A → T in AAB41566. Ref.1
Sequence conflict1801V → W in AAB41566. Ref.1
Sequence conflict1891H → L in AAB41566. Ref.1
Sequence conflict2601G → R in AAB41566. Ref.1

Secondary structure

......................... 282
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q13520 [UniParc].

Last modified November 4, 2008. Version 2.
Checksum: BDA1B3DFCA5C685E

FASTA28229,370
        10         20         30         40         50         60 
MDAVEPGGRG WASMLACRLW KAISRALFAE FLATGLYVFF GVGSVMRWPT ALPSVLQIAI 

        70         80         90        100        110        120 
TFNLVTAMAV QVTWKASGAH ANPAVTLAFL VGSHISLPRA VAYVAAQLVG ATVGAALLYG 

       130        140        150        160        170        180 
VMPGDIRETL GINVVRNSVS TGQAVAVELL LTLQLVLCVF ASTDSRQTSG SPATMIGISV 

       190        200        210        220        230        240 
ALGHLIGIHF TGCSMNPARS FGPAIIIGKF TVHWVFWVGP LMGALLASLI YNFVLFPDTK 

       250        260        270        280 
TLAQRLAILT GTVEVGTGAG AGAEPLKKES QPGSGAVEME SV 

« Hide

References

« Hide 'large scale' references
[1]"cDNA cloning and gene structure of a novel water channel expressed exclusively in human kidney: evidence for a gene cluster of aquaporins at chromosome locus 12q13."
Ma T., Yang B., Kuo W.L., Verkman A.S.
Genomics 35:543-550(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Kidney.
[2]"The finished DNA sequence of human chromosome 12."
Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. expand/collapse author list , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U48408 mRNA. Translation: AAB41566.1.
AC025154 Genomic DNA. No translation available.
RefSeqNP_001643.2. NM_001652.3.
UniGeneHs.54505.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1S6Emodel-A1-282[»]
ProteinModelPortalQ13520.
SMRQ13520. Positions 21-272.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000320247.

Chemistry

GuidetoPHARMACOLOGY693.

Protein family/group databases

TCDB1.A.8.8.4. the major intrinsic protein (mip) family.

PTM databases

PhosphoSiteQ13520.

Polymorphism databases

DMDM212276421.

Proteomic databases

PaxDbQ13520.
PRIDEQ13520.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000315520; ENSP00000320247; ENSG00000086159.
GeneID363.
KEGGhsa:363.
UCSCuc001rvr.1. human.

Organism-specific databases

CTD363.
GeneCardsGC12P050417.
HGNCHGNC:639. AQP6.
HPAHPA015278.
MIM601383. gene.
neXtProtNX_Q13520.
PharmGKBPA24924.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0580.
HOGENOMHOG000288286.
HOVERGENHBG000312.
InParanoidQ13520.
KOK09868.
OMAVHWVFWV.
PhylomeDBQ13520.
TreeFamTF312940.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ13520.
BgeeQ13520.
CleanExHS_AQP6.
GenevestigatorQ13520.

Family and domain databases

Gene3D1.20.1080.10. 1 hit.
InterProIPR023271. Aquaporin-like.
IPR023254. Aquaporin_6.
IPR000425. MIP.
IPR022357. MIP_CS.
[Graphical view]
PANTHERPTHR19139. PTHR19139. 1 hit.
PTHR19139:SF36. PTHR19139:SF36. 1 hit.
PfamPF00230. MIP. 1 hit.
[Graphical view]
PRINTSPR02018. AQUAPORIN6.
PR00783. MINTRINSICP.
SUPFAMSSF81338. SSF81338. 1 hit.
TIGRFAMsTIGR00861. MIP. 1 hit.
PROSITEPS00221. MIP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiAQP6.
GenomeRNAi363.
NextBio1519.
PROQ13520.
SOURCESearch...

Entry information

Entry nameAQP6_HUMAN
AccessionPrimary (citable) accession number: Q13520
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 4, 2008
Last modified: April 16, 2014
This is version 116 of the entry and version 2 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