AQP8_HUMAN
ID AQP8_HUMAN Reviewed; 261 AA.
AC O94778; Q8IUU3; Q9UIA4;
DT 15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT 10-MAY-2004, sequence version 2.
DT 03-AUG-2022, entry version 171.
DE RecName: Full=Aquaporin-8;
DE Short=AQP-8;
GN Name=AQP8;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Testis;
RX PubMed=9806845; DOI=10.1006/geno.1998.5552;
RA Koyama N., Ishibashi K., Kuwahara M., Inase N., Ichioka M., Sasaki S.,
RA Marumo F.;
RT "Cloning and functional expression of human aquaporin8 cDNA and analysis of
RT its gene.";
RL Genomics 54:169-172(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Colon;
RA Tani T., Yamamoto T., Koyama Y., Nihei K., Funaki H., Ikeuchi T.,
RA Yaoita E., Kawasaki K., Sakai Y., Hatakeyama K., Kihara I.;
RT "Cloning, functional expression, localization and chromosomal mapping of
RT human aquaporin 8.";
RL Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 7-261.
RC TISSUE=Colon;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP VARIANT [LARGE SCALE ANALYSIS] MET-229.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
RN [5]
RP TISSUE SPECIFICITY, AND SUBCELLULAR LOCATION.
RX PubMed=28042826; DOI=10.3390/ijms18010066;
RA Laforenza U., Pellavio G., Marchetti A.L., Omes C., Todaro F., Gastaldi G.;
RT "Aquaporin-Mediated Water and Hydrogen Peroxide Transport Is Involved in
RT Normal Human Spermatozoa Functioning.";
RL Int. J. Mol. Sci. 18:0-0(2016).
CC -!- FUNCTION: Forms a water-specific channel; mercury-sensitive. Not
CC permeable to glycerol or urea.
CC -!- INTERACTION:
CC O94778; P46379-2: BAG6; NbExp=3; IntAct=EBI-19124986, EBI-10988864;
CC O94778; Q9BQA9: CYBC1; NbExp=3; IntAct=EBI-19124986, EBI-2680384;
CC O94778; O75190-2: DNAJB6; NbExp=3; IntAct=EBI-19124986, EBI-12593112;
CC O94778; P04792: HSPB1; NbExp=3; IntAct=EBI-19124986, EBI-352682;
CC O94778; O60333-2: KIF1B; NbExp=3; IntAct=EBI-19124986, EBI-10975473;
CC O94778; O14901: KLF11; NbExp=3; IntAct=EBI-19124986, EBI-948266;
CC O94778; Q04941: PLP2; NbExp=3; IntAct=EBI-19124986, EBI-608347;
CC O94778; Q8IY26: PLPP6; NbExp=3; IntAct=EBI-19124986, EBI-11721828;
CC O94778; P60891: PRPS1; NbExp=3; IntAct=EBI-19124986, EBI-749195;
CC O94778; Q9Y3C5: RNF11; NbExp=3; IntAct=EBI-19124986, EBI-396669;
CC O94778; Q9Y6X1: SERP1; NbExp=3; IntAct=EBI-19124986, EBI-10329948;
CC O94778; Q86Y82: STX12; NbExp=3; IntAct=EBI-19124986, EBI-2691717;
CC O94778; A0PK00: TMEM120B; NbExp=3; IntAct=EBI-19124986, EBI-10171534;
CC O94778; O76024: WFS1; NbExp=3; IntAct=EBI-19124986, EBI-720609;
CC -!- SUBCELLULAR LOCATION: Mitochondrion membrane
CC {ECO:0000305|PubMed:28042826}; Multi-pass membrane protein
CC {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Detected in the sperm midpiece (at protein level)
CC (PubMed:28042826). Expressed only in pancreas and colon.
CC {ECO:0000269|PubMed:28042826}.
CC -!- DOMAIN: Aquaporins contain two tandem repeats each containing three
CC membrane-spanning domains and a pore-forming loop with the signature
CC motif Asn-Pro-Ala (NPA).
CC -!- SIMILARITY: Belongs to the MIP/aquaporin (TC 1.A.8) family.
CC {ECO:0000305}.
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DR EMBL; AB013456; BAA34223.1; -; mRNA.
DR EMBL; AF067797; AAF19050.1; -; mRNA.
DR EMBL; BC040630; AAH40630.1; -; mRNA.
DR CCDS; CCDS10626.1; -.
DR RefSeq; NP_001160.2; NM_001169.2.
DR AlphaFoldDB; O94778; -.
DR SMR; O94778; -.
DR BioGRID; 106840; 7.
DR IntAct; O94778; 14.
DR STRING; 9606.ENSP00000219660; -.
DR TCDB; 1.A.8.10.15; the major intrinsic protein (mip) family.
DR GlyGen; O94778; 2 sites.
DR iPTMnet; O94778; -.
DR PhosphoSitePlus; O94778; -.
DR BioMuta; AQP8; -.
DR MassIVE; O94778; -.
DR PaxDb; O94778; -.
DR PeptideAtlas; O94778; -.
DR PRIDE; O94778; -.
DR ProteomicsDB; 50438; -.
DR Antibodypedia; 26204; 198 antibodies from 31 providers.
DR DNASU; 343; -.
DR Ensembl; ENST00000219660.6; ENSP00000219660.5; ENSG00000103375.11.
DR GeneID; 343; -.
DR KEGG; hsa:343; -.
DR MANE-Select; ENST00000219660.6; ENSP00000219660.5; NM_001169.3; NP_001160.2.
DR UCSC; uc002doc.4; human.
DR CTD; 343; -.
DR DisGeNET; 343; -.
DR GeneCards; AQP8; -.
DR HGNC; HGNC:642; AQP8.
DR HPA; ENSG00000103375; Group enriched (intestine, pancreas).
DR MIM; 603750; gene.
DR neXtProt; NX_O94778; -.
DR OpenTargets; ENSG00000103375; -.
DR PharmGKB; PA24926; -.
DR VEuPathDB; HostDB:ENSG00000103375; -.
DR eggNOG; KOG0223; Eukaryota.
DR GeneTree; ENSGT00940000159304; -.
DR InParanoid; O94778; -.
DR OMA; RPPYMSS; -.
DR OrthoDB; 1152704at2759; -.
DR PhylomeDB; O94778; -.
DR TreeFam; TF312940; -.
DR PathwayCommons; O94778; -.
DR Reactome; R-HSA-3299685; Detoxification of Reactive Oxygen Species.
DR Reactome; R-HSA-432047; Passive transport by Aquaporins.
DR SignaLink; O94778; -.
DR BioGRID-ORCS; 343; 10 hits in 1065 CRISPR screens.
DR ChiTaRS; AQP8; human.
DR GeneWiki; AQP8; -.
DR GenomeRNAi; 343; -.
DR Pharos; O94778; Tbio.
DR PRO; PR:O94778; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; O94778; protein.
DR Bgee; ENSG00000103375; Expressed in mucosa of transverse colon and 101 other tissues.
DR ExpressionAtlas; O94778; baseline and differential.
DR Genevisible; O94778; HS.
DR GO; GO:0045177; C:apical part of cell; IDA:UniProtKB.
DR GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR GO; GO:0031966; C:mitochondrial membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0015250; F:water channel activity; IBA:GO_Central.
DR GO; GO:0071320; P:cellular response to cAMP; IEP:UniProtKB.
DR GO; GO:0006833; P:water transport; IBA:GO_Central.
DR Gene3D; 1.20.1080.10; -; 1.
DR InterPro; IPR023271; Aquaporin-like.
DR InterPro; IPR023277; Aquaporin_8.
DR InterPro; IPR034294; Aquaporin_transptr.
DR InterPro; IPR000425; MIP.
DR InterPro; IPR022357; MIP_CS.
DR PANTHER; PTHR45665; PTHR45665; 1.
DR Pfam; PF00230; MIP; 1.
DR PRINTS; PR02020; AQUAPORIN8.
DR PRINTS; PR00783; MINTRINSICP.
DR SUPFAM; SSF81338; SSF81338; 1.
DR PROSITE; PS00221; MIP; 1.
PE 1: Evidence at protein level;
KW Glycoprotein; Membrane; Mitochondrion; Reference proteome; Repeat;
KW Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..261
FT /note="Aquaporin-8"
FT /id="PRO_0000063961"
FT TOPO_DOM 1..36
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 37..57
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 58..84
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 85..105
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 106..107
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 108..128
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 129..156
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 157..177
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 178..183
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 184..204
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 205..228
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 229..249
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 250..261
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT MOTIF 92..94
FT /note="NPA 1"
FT MOTIF 210..212
FT /note="NPA 2"
FT CARBOHYD 59
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 139
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 229
FT /note="I -> M (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036484"
FT VARIANT 260
FT /note="A -> P (in dbSNP:rs2287798)"
FT /id="VAR_021933"
FT CONFLICT 130
FT /note="A -> V (in Ref. 1; BAA34223)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 261 AA; 27381 MW; B5328B07A2049B3B CRC64;
MSGEIAMCEP EFGNDKAREP SVGGRWRVSW YERFVQPCLV ELLGSALFIF IGCLSVIENG
TDTGLLQPAL AHGLALGLVI ATLGNISGGH FNPAVSLAAM LIGGLNLVML LPYWVSQLLG
GMLGAALAKA VSPEERFWNA SGAAFVTVQE QGQVAGALVA EIILTTLLAL AVCMGAINEK
TKGPLAPFSI GFAVTVDILA GGPVSGGCMN PARAFGPAVV ANHWNFHWIY WLGPLLAGLL
VGLLIRCFIG DGKTRLILKA R
