Reviewed, UniProtKB/Swiss-Prot O94778 (AQP8_HUMAN)

Names and origin

Protein names

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

Gene names

Name:

AQP8

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	261 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
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
PTM	Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	water transport Ref.1 Traceable author statement. Source: ProtInc
Cellular component	integral to plasma membrane Ref.1 Traceable author statement. Source: ProtInc
Molecular function	water channel activity Ref.1 Traceable author statement. 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	Potential
	Topological domain	58 – 84	27	Extracellular Potential
	Transmembrane	85 – 105	21	Potential
	Topological domain	106 – 107	2	Cytoplasmic Potential
	Transmembrane	108 – 128	21	Potential
	Topological domain	129 – 156	28	Extracellular Potential
	Transmembrane	157 – 177	21	Potential
	Topological domain	178 – 183	6	Cytoplasmic Potential
	Transmembrane	184 – 204	21	Potential
	Topological domain	205 – 228	24	Extracellular Potential
	Transmembrane	229 – 249	21	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: dbSNP rs2287798.		VAR_021933
Experimental info
	Sequence conflict	130	1	A → V in BAA34223. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	O94778-1 [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: 9806845] [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: 15489334] [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: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] MET-229.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AB013456 mRNA. Translation: BAA34223.1. AF067797 mRNA. Translation: AAF19050.1. BC040630 mRNA. Translation: AAH40630.1.
IPI	IPI00395685.
RefSeq	NP_001160.2.
UniGene	Hs.176658
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	O94778.
Protein family/group databases
TCDB	1.A.8.16.1. major intrinsic protein (MIP) family.
Genome annotation databases
Ensembl	ENST00000219660; ENSP00000219660; ENSG00000103375; Homo sapiens. [Genome view]
GeneID	343.
KEGG	hsa:343.
UCSC	uc002doc.1. human.
Organism-specific databases
CTD	343.
GeneCards	GC16P025135.
H-InvDB	HIX0026930.
HGNC	HGNC:642. AQP8.
MIM	603750. gene.
PharmGKB	PA24926.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	O94778.
HOVERGEN	O94778.
OMA	RVSWYER
OrthoDB	EOG9N071M
Gene expression databases
ArrayExpress	O94778.
Bgee	O94778.
CleanEx	HS_AQP8.
Genevestigator	O94778.
GermOnline	ENSG00000103375. Homo sapiens.
Family and domain databases
InterPro	IPR000425. MIP. [Graphical view]
Gene3D	G3DSA:1.20.1080.10. MIP. 1 hit.
PANTHER	PTHR19139. MIP. 1 hit.
Pfam	PF00230. MIP. 1 hit. [Graphical view]
PRINTS	PR00783. MINTRINSICP.
PROSITE	PS00221. MIP. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
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:	November 24, 2009
This is version 75 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.