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O94778 (AQP8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 119. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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-8

Short name=AQP-8
Gene names
Name:AQP8
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length261 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Forms a water-specific channel; mercury-sensitive. Not permeable to glycerol or urea.

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

Expressed only in pancreas and colon.

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 – 261261Aquaporin-8
PRO_0000063961

Regions

Topological domain1 – 3636Cytoplasmic Potential
Transmembrane37 – 5721Helical; Potential
Topological domain58 – 8427Extracellular Potential
Transmembrane85 – 10521Helical; Potential
Topological domain106 – 1072Cytoplasmic Potential
Transmembrane108 – 12821Helical; Potential
Topological domain129 – 15628Extracellular Potential
Transmembrane157 – 17721Helical; Potential
Topological domain178 – 1836Cytoplasmic Potential
Transmembrane184 – 20421Helical; Potential
Topological domain205 – 22824Extracellular Potential
Transmembrane229 – 24921Helical; Potential
Topological domain250 – 26112Cytoplasmic Potential
Motif92 – 943NPA 1
Motif210 – 2123NPA 2

Amino acid modifications

Glycosylation591N-linked (GlcNAc...) Potential
Glycosylation1391N-linked (GlcNAc...) Potential

Natural variations

Natural variant2291I → M in a breast cancer sample; somatic mutation. Ref.4
VAR_036484
Natural variant2601A → P.
Corresponds to variant rs2287798 [ dbSNP | Ensembl ].
VAR_021933

Experimental info

Sequence conflict1301A → V in BAA34223. Ref.1

Sequences

Sequence LengthMass (Da)Tools
O94778 [UniParc].

Last modified May 10, 2004. Version 2.
Checksum: B5328B07A2049B3B

FASTA26127,381
        10         20         30         40         50         60 
MSGEIAMCEP EFGNDKAREP SVGGRWRVSW YERFVQPCLV ELLGSALFIF IGCLSVIENG 

        70         80         90        100        110        120 
TDTGLLQPAL AHGLALGLVI ATLGNISGGH FNPAVSLAAM LIGGLNLVML LPYWVSQLLG 

       130        140        150        160        170        180 
GMLGAALAKA VSPEERFWNA SGAAFVTVQE QGQVAGALVA EIILTTLLAL AVCMGAINEK 

       190        200        210        220        230        240 
TKGPLAPFSI GFAVTVDILA GGPVSGGCMN PARAFGPAVV ANHWNFHWIY WLGPLLAGLL 

       250        260 
VGLLIRCFIG DGKTRLILKA R 

« Hide

References

« Hide 'large scale' references
[1]"Cloning and functional expression of human aquaporin8 cDNA and analysis of its gene."
Koyama N., Ishibashi K., Kuwahara M., Inase N., Ichioka M., Sasaki S., Marumo F.
Genomics 54:169-172(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Testis.
[2]"Cloning, functional expression, localization and chromosomal mapping of human aquaporin 8."
Tani T., Yamamoto T., Koyama Y., Nihei K., Funaki H., Ikeuchi T., Yaoita E., Kawasaki K., Sakai Y., Hatakeyama K., Kihara I.
Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Colon.
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 7-261.
Tissue: Colon.
[4]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] MET-229.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB013456 mRNA. Translation: BAA34223.1.
AF067797 mRNA. Translation: AAF19050.1.
BC040630 mRNA. Translation: AAH40630.1.
CCDSCCDS10626.1.
RefSeqNP_001160.2. NM_001169.2.
UniGeneHs.176658.

3D structure databases

ProteinModelPortalO94778.
SMRO94778. Positions 34-244.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000219660.

Chemistry

GuidetoPHARMACOLOGY695.

Protein family/group databases

TCDB1.A.8.16.1. the major intrinsic protein (mip) family.

Proteomic databases

PaxDbO94778.
PRIDEO94778.

Protocols and materials databases

DNASU343.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000219660; ENSP00000219660; ENSG00000103375.
ENST00000566125; ENSP00000454457; ENSG00000103375.
GeneID343.
KEGGhsa:343.
UCSCuc002doc.3. human.

Organism-specific databases

CTD343.
GeneCardsGC16P025227.
HGNCHGNC:642. AQP8.
HPAHPA046259.
MIM603750. gene.
neXtProtNX_O94778.
PharmGKBPA24926.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0580.
HOGENOMHOG000288286.
HOVERGENHBG100478.
InParanoidO94778.
KOK09869.
OMAWRVSWYE.
OrthoDBEOG7N8ZWD.
PhylomeDBO94778.
TreeFamTF312940.

Enzyme and pathway databases

ReactomeREACT_120956. Cellular responses to stress.
REACT_15518. Transmembrane transport of small molecules.

Gene expression databases

BgeeO94778.
CleanExHS_AQP8.
GenevestigatorO94778.

Family and domain databases

Gene3D1.20.1080.10. 1 hit.
InterProIPR023271. Aquaporin-like.
IPR023277. Aquaporin_8.
IPR000425. MIP.
IPR022357. MIP_CS.
[Graphical view]
PANTHERPTHR19139. PTHR19139. 1 hit.
PfamPF00230. MIP. 1 hit.
[Graphical view]
PRINTSPR02020. AQUAPORIN8.
PR00783. MINTRINSICP.
SUPFAMSSF81338. SSF81338. 1 hit.
PROSITEPS00221. MIP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiAQP8.
GenomeRNAi343.
NextBio1415.
PROO94778.
SOURCESearch...

Entry information

Entry nameAQP8_HUMAN
AccessionPrimary (citable) accession number: O94778
Secondary accession number(s): Q8IUU3, Q9UIA4
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: May 10, 2004
Last modified: July 9, 2014
This is version 119 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

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 16

Human chromosome 16: entries, gene names and cross-references to MIM