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Q13520

- AQP6_HUMAN

UniProt

Q13520 - AQP6_HUMAN

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Protein

Aquaporin-6

Gene

AQP6

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. anion channel activity Source: Reactome
  2. water channel activity Source: ProtInc

GO - Biological processi

  1. anion transport Source: GOC
  2. excretion Source: ProtInc
  3. odontogenesis Source: UniProtKB
  4. transmembrane transport Source: Reactome
  5. transport Source: ProtInc
  6. 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.8.8.4. 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
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:639. AQP6.

Subcellular locationi

GO - Cellular componenti

  1. integral component of plasma membrane Source: ProtInc
  2. transport vesicle membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasmic vesicle, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA24924.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 282282Aquaporin-6PRO_0000063955Add
BLAST

Proteomic databases

PaxDbiQ13520.
PRIDEiQ13520.

PTM databases

PhosphoSiteiQ13520.

Expressioni

Gene expression databases

BgeeiQ13520.
CleanExiHS_AQP6.
ExpressionAtlasiQ13520. baseline and differential.
GenevestigatoriQ13520.

Organism-specific databases

HPAiHPA015278.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000320247.

Structurei

Secondary structure

1
282
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi15 – 4228
Beta strandi44 – 496
Helixi55 – 7218
Beta strandi75 – 784
Helixi83 – 908
Helixi101 – 12121
Turni126 – 1294
Beta strandi139 – 1424
Helixi143 – 16119
Helixi171 – 18717
Turni188 – 1903
Helixi198 – 2047
Helixi212 – 23221

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1S6Emodel-A1-282[»]
ProteinModelPortaliQ13520.
SMRiQ13520. Positions 22-252.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3030CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini49 – 546ExtracellularSequence Analysis
Topological domaini74 – 9926CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini122 – 14120ExtracellularSequence AnalysisAdd
BLAST
Topological domaini163 – 1686CytoplasmicSequence Analysis
Topological domaini189 – 21426ExtracellularSequence AnalysisAdd
BLAST
Topological domaini237 – 28246CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei31 – 4818HelicalSequence AnalysisAdd
BLAST
Transmembranei55 – 7319HelicalSequence AnalysisAdd
BLAST
Transmembranei100 – 12122HelicalSequence AnalysisAdd
BLAST
Transmembranei142 – 16221HelicalSequence AnalysisAdd
BLAST
Transmembranei169 – 18820HelicalSequence AnalysisAdd
BLAST
Transmembranei215 – 23622HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi82 – 843NPA 1
Motifi196 – 1983NPA 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.
GeneTreeiENSGT00760000119223.
HOGENOMiHOG000288286.
HOVERGENiHBG000312.
InParanoidiQ13520.
KOiK09868.
OMAiVHWVFWV.
PhylomeDBiQ13520.
TreeFamiTF312940.

Family and domain databases

Gene3Di1.20.1080.10. 1 hit.
InterProiIPR023271. Aquaporin-like.
IPR023254. Aquaporin_6.
IPR000425. MIP.
IPR022357. MIP_CS.
[Graphical view]
PANTHERiPTHR19139. PTHR19139. 1 hit.
PfamiPF00230. MIP. 1 hit.
[Graphical view]
PRINTSiPR02018. AQUAPORIN6.
PR00783. MINTRINSICP.
SUPFAMiSSF81338. SSF81338. 1 hit.
TIGRFAMsiTIGR00861. MIP. 1 hit.
PROSITEiPS00221. MIP. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti4 – 52VE → EV in AAB41566. (PubMed:8812490)Curated
Sequence conflicti76 – 761A → T in AAB41566. (PubMed:8812490)Curated
Sequence conflicti180 – 1801V → W in AAB41566. (PubMed:8812490)Curated
Sequence conflicti189 – 1891H → L in AAB41566. (PubMed:8812490)Curated
Sequence conflicti260 – 2601G → R in AAB41566. (PubMed:8812490)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti234 – 2341V → I.
Corresponds to variant rs17124220 [ dbSNP | Ensembl ].
VAR_047233

Sequence databases

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

Polymorphism databases

DMDMi212276421.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U48408 mRNA. Translation: AAB41566.1 .
AC025154 Genomic DNA. No translation available.
CCDSi CCDS31798.1.
RefSeqi NP_001643.2. NM_001652.3.
UniGenei Hs.54505.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1S6E model - A 1-282 [» ]
ProteinModelPortali Q13520.
SMRi Q13520. Positions 22-252.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000320247.

Chemistry

GuidetoPHARMACOLOGYi 693.

Protein family/group databases

TCDBi 1.A.8.8.4. the major intrinsic protein (mip) family.

PTM databases

PhosphoSitei Q13520.

Polymorphism databases

DMDMi 212276421.

Proteomic databases

PaxDbi Q13520.
PRIDEi Q13520.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000315520 ; ENSP00000320247 ; ENSG00000086159 .
ENST00000615425 ; ENSP00000477688 ; ENSG00000086159 .
GeneIDi 363.
KEGGi hsa:363.
UCSCi uc001rvr.1. human.

Organism-specific databases

CTDi 363.
GeneCardsi GC12P050417.
HGNCi HGNC:639. AQP6.
HPAi HPA015278.
MIMi 601383. gene.
neXtProti NX_Q13520.
PharmGKBi PA24924.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0580.
GeneTreei ENSGT00760000119223.
HOGENOMi HOG000288286.
HOVERGENi HBG000312.
InParanoidi Q13520.
KOi K09868.
OMAi VHWVFWV.
PhylomeDBi Q13520.
TreeFami TF312940.

Enzyme and pathway databases

Reactomei REACT_23826. Passive transport by Aquaporins.

Miscellaneous databases

GeneWikii AQP6.
GenomeRNAii 363.
NextBioi 1519.
PROi Q13520.
SOURCEi Search...

Gene expression databases

Bgeei Q13520.
CleanExi HS_AQP6.
ExpressionAtlasi Q13520. baseline and differential.
Genevestigatori Q13520.

Family and domain databases

Gene3Di 1.20.1080.10. 1 hit.
InterProi IPR023271. Aquaporin-like.
IPR023254. Aquaporin_6.
IPR000425. MIP.
IPR022357. MIP_CS.
[Graphical view ]
PANTHERi PTHR19139. PTHR19139. 1 hit.
Pfami PF00230. MIP. 1 hit.
[Graphical view ]
PRINTSi PR02018. AQUAPORIN6.
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. "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.
    , 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].

Entry informationi

Entry nameiAQP6_HUMAN
AccessioniPrimary (citable) accession number: Q13520
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 4, 2008
Last modified: October 29, 2014
This is version 121 of the entry and version 2 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