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O94778

- AQP8_HUMAN

UniProt

O94778 - AQP8_HUMAN

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Protein

Aquaporin-8

Gene

AQP8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

Functioni

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

GO - Molecular functioni

  1. water channel activity Source: ProtInc

GO - Biological processi

  1. canalicular bile acid transport Source: Ensembl
  2. cellular response to cAMP Source: UniProtKB
  3. transmembrane transport Source: Reactome
  4. transport Source: ProtInc
  5. water transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

ReactomeiREACT_172715. Detoxification of Reactive Oxygen Species.
REACT_23826. Passive transport by Aquaporins.

Protein family/group databases

TCDBi1.A.8.16.1. the major intrinsic protein (mip) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Aquaporin-8
Short name:
AQP-8
Gene namesi
Name:AQP8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:642. AQP8.

Subcellular locationi

GO - Cellular componenti

  1. apical part of cell Source: UniProtKB
  2. integral component of plasma membrane Source: ProtInc
  3. intracellular canaliculus Source: Ensembl
  4. intracellular membrane-bounded organelle Source: Ensembl
  5. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA24926.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 261261Aquaporin-8PRO_0000063961Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi59 – 591N-linked (GlcNAc...)Sequence Analysis
Glycosylationi139 – 1391N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiO94778.
PRIDEiO94778.

Expressioni

Tissue specificityi

Expressed only in pancreas and colon.

Gene expression databases

BgeeiO94778.
CleanExiHS_AQP8.
GenevestigatoriO94778.

Organism-specific databases

HPAiHPA046259.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000219660.

Structurei

3D structure databases

ProteinModelPortaliO94778.
SMRiO94778. Positions 34-244.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3636CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini58 – 8427ExtracellularSequence AnalysisAdd
BLAST
Topological domaini106 – 1072CytoplasmicSequence Analysis
Topological domaini129 – 15628ExtracellularSequence AnalysisAdd
BLAST
Topological domaini178 – 1836CytoplasmicSequence Analysis
Topological domaini205 – 22824ExtracellularSequence AnalysisAdd
BLAST
Topological domaini250 – 26112CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei37 – 5721HelicalSequence AnalysisAdd
BLAST
Transmembranei85 – 10521HelicalSequence AnalysisAdd
BLAST
Transmembranei108 – 12821HelicalSequence AnalysisAdd
BLAST
Transmembranei157 – 17721HelicalSequence AnalysisAdd
BLAST
Transmembranei184 – 20421HelicalSequence AnalysisAdd
BLAST
Transmembranei229 – 24921HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi92 – 943NPA 1
Motifi210 – 2123NPA 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.
HOVERGENiHBG100478.
InParanoidiO94778.
KOiK09869.
OMAiWRVSWYE.
OrthoDBiEOG7N8ZWD.
PhylomeDBiO94778.
TreeFamiTF312940.

Family and domain databases

Gene3Di1.20.1080.10. 1 hit.
InterProiIPR023271. Aquaporin-like.
IPR023277. Aquaporin_8.
IPR000425. MIP.
IPR022357. MIP_CS.
[Graphical view]
PANTHERiPTHR19139. PTHR19139. 1 hit.
PfamiPF00230. MIP. 1 hit.
[Graphical view]
PRINTSiPR02020. AQUAPORIN8.
PR00783. MINTRINSICP.
SUPFAMiSSF81338. SSF81338. 1 hit.
PROSITEiPS00221. MIP. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O94778-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MSGEIAMCEP EFGNDKAREP SVGGRWRVSW YERFVQPCLV ELLGSALFIF
60 70 80 90 100
IGCLSVIENG TDTGLLQPAL AHGLALGLVI ATLGNISGGH FNPAVSLAAM
110 120 130 140 150
LIGGLNLVML LPYWVSQLLG GMLGAALAKA VSPEERFWNA SGAAFVTVQE
160 170 180 190 200
QGQVAGALVA EIILTTLLAL AVCMGAINEK TKGPLAPFSI GFAVTVDILA
210 220 230 240 250
GGPVSGGCMN PARAFGPAVV ANHWNFHWIY WLGPLLAGLL VGLLIRCFIG
260
DGKTRLILKA R
Length:261
Mass (Da):27,381
Last modified:May 10, 2004 - v2
Checksum:iB5328B07A2049B3B
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti130 – 1301A → V in BAA34223. (PubMed:9806845)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti229 – 2291I → M in a breast cancer sample; somatic mutation. 1 Publication
VAR_036484
Natural varianti260 – 2601A → P.
Corresponds to variant rs2287798 [ dbSNP | Ensembl ].
VAR_021933

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB013456 mRNA. Translation: BAA34223.1.
AF067797 mRNA. Translation: AAF19050.1.
BC040630 mRNA. Translation: AAH40630.1.
CCDSiCCDS10626.1.
RefSeqiNP_001160.2. NM_001169.2.
UniGeneiHs.176658.

Genome annotation databases

EnsembliENST00000219660; ENSP00000219660; ENSG00000103375.
ENST00000566125; ENSP00000454457; ENSG00000103375.
GeneIDi343.
KEGGihsa:343.
UCSCiuc002doc.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB013456 mRNA. Translation: BAA34223.1 .
AF067797 mRNA. Translation: AAF19050.1 .
BC040630 mRNA. Translation: AAH40630.1 .
CCDSi CCDS10626.1.
RefSeqi NP_001160.2. NM_001169.2.
UniGenei Hs.176658.

3D structure databases

ProteinModelPortali O94778.
SMRi O94778. Positions 34-244.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000219660.

Chemistry

GuidetoPHARMACOLOGYi 695.

Protein family/group databases

TCDBi 1.A.8.16.1. the major intrinsic protein (mip) family.

Proteomic databases

PaxDbi O94778.
PRIDEi O94778.

Protocols and materials databases

DNASUi 343.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000219660 ; ENSP00000219660 ; ENSG00000103375 .
ENST00000566125 ; ENSP00000454457 ; ENSG00000103375 .
GeneIDi 343.
KEGGi hsa:343.
UCSCi uc002doc.3. human.

Organism-specific databases

CTDi 343.
GeneCardsi GC16P025227.
HGNCi HGNC:642. AQP8.
HPAi HPA046259.
MIMi 603750. gene.
neXtProti NX_O94778.
PharmGKBi PA24926.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0580.
GeneTreei ENSGT00760000119223.
HOGENOMi HOG000288286.
HOVERGENi HBG100478.
InParanoidi O94778.
KOi K09869.
OMAi WRVSWYE.
OrthoDBi EOG7N8ZWD.
PhylomeDBi O94778.
TreeFami TF312940.

Enzyme and pathway databases

Reactomei REACT_172715. Detoxification of Reactive Oxygen Species.
REACT_23826. Passive transport by Aquaporins.

Miscellaneous databases

GeneWikii AQP8.
GenomeRNAii 343.
NextBioi 1415.
PROi O94778.
SOURCEi Search...

Gene expression databases

Bgeei O94778.
CleanExi HS_AQP8.
Genevestigatori O94778.

Family and domain databases

Gene3Di 1.20.1080.10. 1 hit.
InterProi IPR023271. Aquaporin-like.
IPR023277. Aquaporin_8.
IPR000425. MIP.
IPR022357. MIP_CS.
[Graphical view ]
PANTHERi PTHR19139. PTHR19139. 1 hit.
Pfami PF00230. MIP. 1 hit.
[Graphical view ]
PRINTSi PR02020. AQUAPORIN8.
PR00783. MINTRINSICP.
SUPFAMi SSF81338. SSF81338. 1 hit.
PROSITEi PS00221. MIP. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. Cited for: VARIANT [LARGE SCALE ANALYSIS] MET-229.

Entry informationi

Entry nameiAQP8_HUMAN
AccessioniPrimary (citable) accession number: O94778
Secondary accession number(s): Q8IUU3, Q9UIA4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: May 10, 2004
Last modified: October 29, 2014
This is version 122 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3