O94778 (AQP8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Aquaporin-8
Short name=AQP-8

Gene names

Name:

AQP8

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	261 AA.
Sequence status	Complete.
Protein existence	Evidence 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]

Ontologies

Keywords
Biological process	Transport
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Repeat Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	canalicular bile acid transport Inferred from electronic annotation. Source: Compara cellular response to cAMP Inferred from expression pattern PubMed 17636236. Source: UniProtKB
Cellular_component	apical part of cell Inferred from direct assay PubMed 12801959. Source: UniProtKB integral to plasma membrane Traceable author statement Ref.1. Source: ProtInc intracellular canaliculus Inferred from electronic annotation. Source: Compara intracellular membrane-bounded organelle Inferred from electronic annotation. Source: Compara
Molecular_function	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 – 261	261	Aquaporin-8		PRO_0000063961
Regions
	Topological domain	1 – 36	36	Cytoplasmic Potential
	Transmembrane	37 – 57	21	Helical; Potential
	Topological domain	58 – 84	27	Extracellular Potential
	Transmembrane	85 – 105	21	Helical; Potential
	Topological domain	106 – 107	2	Cytoplasmic Potential
	Transmembrane	108 – 128	21	Helical; Potential
	Topological domain	129 – 156	28	Extracellular Potential
	Transmembrane	157 – 177	21	Helical; Potential
	Topological domain	178 – 183	6	Cytoplasmic Potential
	Transmembrane	184 – 204	21	Helical; Potential
	Topological domain	205 – 228	24	Extracellular Potential
	Transmembrane	229 – 249	21	Helical; Potential
	Topological domain	250 – 261	12	Cytoplasmic Potential
	Motif	92 – 94	3	NPA 1
	Motif	210 – 212	3	NPA 2
Amino acid modifications
	Glycosylation	59	1	N-linked (GlcNAc...) Potential
	Glycosylation	139	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	229	1	I → M in a breast cancer sample; somatic mutation. Ref.4		VAR_036484
	Natural variant	260	1	A → P. Corresponds to variant rs2287798 [ dbSNP | Ensembl ].		VAR_021933
Experimental info
	Sequence conflict	130	1	A → V in BAA34223. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	O94778 [UniParc]. Last modified May 10, 2004. Version 2. Checksum: B5328B07A2049B3B	FASTA	261	27,381
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00395685.
RefSeq	NP_001160.2. NM_001169.2.
UniGene	Hs.176658.
3D structure databases
ProteinModelPortal	O94778.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000219660.
Protein family/group databases
TCDB	1.A.8.16.1. major intrinsic protein (MIP) family.
Proteomic databases
PaxDb	O94778.
PRIDE	O94778.
Protocols and materials databases
DNASU	343.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000219660; ENSP00000219660; ENSG00000103375. ENST00000566125; ENSP00000454457; ENSG00000103375.
GeneID	343.
KEGG	hsa:343.
UCSC	uc002doc.3. human.
Organism-specific databases
CTD	343.
GeneCards	GC16P025227.
HGNC	HGNC:642. AQP8.
HPA	HPA046259.
MIM	603750. gene.
neXtProt	NX_O94778.
PharmGKB	PA24926.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0580.
HOGENOM	HOG000288286.
HOVERGEN	HBG100478.
InParanoid	O94778.
KO	K09869.
OMA	LQPCLVE.
OrthoDB	EOG434W6X.
PhylomeDB	O94778.
Enzyme and pathway databases
Reactome	REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
Bgee	O94778.
CleanEx	HS_AQP8.
Genevestigator	O94778.
GermOnline	ENSG00000103375. Homo sapiens.
Family and domain databases
Gene3D	1.20.1080.10. 1 hit.
InterPro	IPR023271. Aquaporin-like. IPR023277. Aquaporin_8. IPR000425. MIP. IPR022357. MIP_CS. [Graphical view]
PANTHER	PTHR19139. PTHR19139. 1 hit.
Pfam	PF00230. MIP. 1 hit. [Graphical view]
PRINTS	PR02020. AQUAPORIN8. PR00783. MINTRINSICP.
SUPFAM	SSF81338. MIP. 1 hit.
PROSITE	PS00221. MIP. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	343.
NextBio	1415.
SOURCE	Search...

Entry information

Entry name

AQP8_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 107 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.