Q13520 (AQP6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	282 AA.
Sequence status	Complete.
Protein existence	Evidence 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]

Ontologies

Keywords
Biological process	Transport
Cellular component	Cytoplasmic vesicle Membrane
Coding sequence diversity	Polymorphism
Domain	Repeat Transmembrane Transmembrane helix
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	excretion Traceable author statement Ref.1. Source: ProtInc odontogenesis Inferred from expression pattern PubMed 12522663. Source: UniProtKB
Cellular_component	integral to plasma membrane Traceable author statement Ref.1. Source: ProtInc transport vesicle membrane Traceable author statement. Source: Reactome
Molecular_function	anion channel activity Inferred from experiment. Source: Reactome nitrate transmembrane transporter activity Inferred from electronic annotation. Source: Compara water channel activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 282

282

Aquaporin-6

PRO_0000063955

Regions

Topological domain

1 – 30

30

Cytoplasmic Potential

Transmembrane

31 – 48

18

Helical; Potential

Topological domain

49 – 54

6

Extracellular Potential

Transmembrane

55 – 73

19

Helical; Potential

Topological domain

74 – 99

26

Cytoplasmic Potential

Transmembrane

100 – 121

22

Helical; Potential

Topological domain

122 – 141

20

Extracellular Potential

Transmembrane

142 – 162

21

Helical; Potential

Topological domain

163 – 168

6

Cytoplasmic Potential

Transmembrane

169 – 188

20

Helical; Potential

Topological domain

189 – 214

26

Extracellular Potential

Transmembrane

215 – 236

22

Helical; Potential

Topological domain

237 – 282

46

Cytoplasmic Potential

Motif

82 – 84

3

NPA 1

Motif

196 – 198

3

NPA 2

Natural variations

Natural variant

234

1

V → I.
Corresponds to variant rs17124220 [ dbSNP | Ensembl ].

VAR_047233

Experimental info

Sequence conflict

4 – 5

2

VE → EV in AAB41566. Ref.1

Sequence conflict

76

1

A → T in AAB41566. Ref.1

Sequence conflict

180

1

V → W in AAB41566. Ref.1

Sequence conflict

189

1

H → L in AAB41566. Ref.1

Sequence conflict

260

1

G → R in AAB41566. Ref.1

Secondary structure

1

.

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282

Helix Strand Turn

Details...

Helix

15 – 42

28

Beta strand

44 – 49

6

Helix

55 – 72

18

Beta strand

75 – 78

4

Helix

83 – 90

8

Helix

101 – 121

21

Turn

126 – 129

4

Beta strand

139 – 142

4

Helix

143 – 161

19

Helix

171 – 187

17

Turn

188 – 190

3

Helix

198 – 204

7

Helix

212 – 232

21

Sequences

	Sequence		Length	Mass (Da)
	Q13520 [UniParc]. Last modified November 4, 2008. Version 2. Checksum: BDA1B3DFCA5C685E	FASTA	282	29,370
	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

References

	« Hide 'large scale' referencesShow '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. , 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.

IPI

IPI00013717.

RefSeq

NP_001643.2. NM_001652.3.

UniGene

Hs.54505.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1S6E	model	-	A	1-282	[»]

ProteinModelPortal

Q13520.

ModBase

Search...

Protein-protein interaction databases

STRING

9606.ENSP00000320247.

Protein family/group databases

TCDB

1.A.8.8.4. major intrinsic protein (MIP) family.

PTM databases

PhosphoSite

Q13520.

Polymorphism databases

DMDM

212276421.

Proteomic databases

PaxDb

Q13520.

PRIDE

Q13520.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000315520; ENSP00000320247; ENSG00000086159.

GeneID

363.

KEGG

hsa:363.

UCSC

uc001rvr.1. human.

Organism-specific databases

CTD

363.

GeneCards

GC12P050417.

HGNC

HGNC:639. AQP6.

HPA

HPA015278.

MIM

601383. gene.

neXtProt

NX_Q13520.

PharmGKB

PA24924.

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG0580.

HOGENOM

HOG000288286.

HOVERGEN

HBG000312.

InParanoid

Q13520.

KO

K09868.

OMA

WASMLAC.

OrthoDB

EOG4FJ89M.

PhylomeDB

Q13520.

Enzyme and pathway databases

Reactome

REACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpress

Q13520.

Bgee

Q13520.

CleanEx

HS_AQP6.

Genevestigator

Q13520.

GermOnline

ENSG00000086159. Homo sapiens.

Family and domain databases

Gene3D

1.20.1080.10. 1 hit.

InterPro

IPR023271. Aquaporin-like.
IPR023254. Aquaporin_6.
IPR000425. MIP.
IPR022357. MIP_CS.
[Graphical view]

PANTHER

PTHR19139. PTHR19139. 1 hit.
PTHR19139:SF36. PTHR19139:SF36. 1 hit.

Pfam

PF00230. MIP. 1 hit.
[Graphical view]

PRINTS

PR02018. AQUAPORIN6.
PR00783. MINTRINSICP.

SUPFAM

SSF81338. MIP. 1 hit.

TIGRFAMs

TIGR00861. MIP. 1 hit.

PROSITE

PS00221. MIP. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

GenomeRNAi

363.

NextBio

1519.

SOURCE

Search...

Entry information

Entry name

AQP6_HUMAN

Accession

Primary (citable) accession number: Q13520

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	November 4, 2008
Last modified:	May 1, 2013
This is version 106 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.