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Aquaporin-7 (AQP-7) (Aquaglyceroporin-7) (Aquaporin adipose) (AQPap) (Aquaporin-7-like)

 AQP7_HUMAN              Reviewed;         342 AA.
O14520; Q08E94; Q5T5L9; Q8NHM3;
15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
01-JAN-1998, sequence version 1.
12-SEP-2018, entry version 144.
RecName: Full=Aquaporin-7;
Short=AQP-7;
AltName: Full=Aquaglyceroporin-7;
AltName: Full=Aquaporin adipose;
Short=AQPap;
AltName: Full=Aquaporin-7-like;
Name=AQP7; Synonyms=AQP7L, AQP9;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Adipose tissue;
PubMed=9405233; DOI=10.1006/bbrc.1997.7769;
Kuriyama H., Kawamoto S., Ishida N., Ohno I., Mita S., Matsuzawa Y.,
Matsubara K., Okubo K.;
"Molecular cloning and expression of a novel human aquaporin from
adipose tissue with glycerol permeability.";
Biochem. Biophys. Res. Commun. 241:53-58(1997).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], INVOLVEMENT IN GLYCQTL, VARIANTS
CYS-12; LEU-59 AND VAL-264, AND CHARACTERIZATION OF VARIANT VAL-264.
PubMed=11952783; DOI=10.1046/j.1432-1033.2002.02821.x;
Kondo H., Shimomura I., Kishida K., Kuriyama H., Makino Y.,
Nishizawa H., Matsuda M., Maeda N., Nagaretani H., Kihara S.,
Kurachi Y., Nakamura T., Funahashi T., Matsuzawa Y.;
"Human aquaporin adipose (AQPap) gene. Genomic structure, promoter
analysis and functional mutation.";
Eur. J. Biochem. 269:1814-1826(2002).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Skeletal muscle;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15164053; DOI=10.1038/nature02465;
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E.,
Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C.,
Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S.,
Babbage A.K., Babbage S., Bagguley C.L., Bailey J., Banerjee R.,
Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P.,
Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W.,
Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G.,
Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M.,
Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W.,
Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A.,
Frankland J.A., French L., Fricker D.G., Garner P., Garnett J.,
Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
Kimberley A.M., King A., Knights A., Laird G.K., Langford C.,
Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M.,
Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S.,
McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J.,
Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R.,
Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M.,
Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M.,
Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A.,
Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P.,
Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W.,
Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S.,
Rogers J., Dunham I.;
"DNA sequence and analysis of human chromosome 9.";
Nature 429:369-374(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
VARIANT VAL-264.
PubMed=17566090; DOI=10.1210/jc.2007-0531;
Ceperuelo-Mallafre V., Miranda M., Chacon M.R., Vilarrasa N.,
Megia A., Gutierrez C., Fernandez-Real J.M., Gomez J.M., Caubet E.,
Fruhbeck G., Vendrell J.;
"Adipose tissue expression of the glycerol channel aquaporin-7 gene is
altered in severe obesity but not in type 2 diabetes.";
J. Clin. Endocrinol. Metab. 92:3640-3645(2007).
-!- FUNCTION: Forms a channel for water and glycerol.
-!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=O14520-1; Sequence=Displayed;
Name=2;
IsoId=O14520-2; Sequence=VSP_056249, VSP_056250;
-!- DOMAIN: Aquaporins contain two tandem repeats each containing
three membrane-spanning domains and a pore-forming loop with the
signature motif Asn-Pro/Ala-Ala/Ser (NPA).
-!- POLYMORPHISM: Genetic variations in AQP7 are responsible for
changes in glycerol release during exercise and define the
glycerol quantitative trait locus (GLYCQTL) [MIM:614411].
-!- SIMILARITY: Belongs to the MIP/aquaporin (TC 1.A.8) family.
{ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; AB006190; BAA21745.1; -; mRNA.
EMBL; AB052626; BAC05693.1; -; Genomic_DNA.
EMBL; AK300716; BAH13332.1; -; mRNA.
EMBL; AK315879; BAF98770.1; -; mRNA.
EMBL; AL356218; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC119672; AAI19673.1; -; mRNA.
EMBL; BC119673; AAI19674.1; -; mRNA.
CCDS; CCDS6541.1; -. [O14520-1]
PIR; JC5791; JC5791.
RefSeq; NP_001161.1; NM_001170.2. [O14520-1]
RefSeq; NP_001305086.1; NM_001318157.1.
RefSeq; NP_001305087.1; NM_001318158.1.
RefSeq; XP_005251510.1; XM_005251453.3. [O14520-1]
RefSeq; XP_011516168.1; XM_011517866.2. [O14520-1]
UniGene; Hs.455323; -.
ProteinModelPortal; O14520; -.
STRING; 9606.ENSP00000297988; -.
TCDB; 1.A.8.9.6; the major intrinsic protein (mip) family.
iPTMnet; O14520; -.
PhosphoSitePlus; O14520; -.
BioMuta; AQP7; -.
PaxDb; O14520; -.
PeptideAtlas; O14520; -.
PRIDE; O14520; -.
ProteomicsDB; 48063; -.
DNASU; 364; -.
Ensembl; ENST00000297988; ENSP00000297988; ENSG00000165269. [O14520-1]
Ensembl; ENST00000447660; ENSP00000412868; ENSG00000165269. [O14520-2]
GeneID; 364; -.
KEGG; hsa:364; -.
UCSC; uc003zst.3; human. [O14520-1]
CTD; 364; -.
DisGeNET; 364; -.
EuPathDB; HostDB:ENSG00000165269.12; -.
GeneCards; AQP7; -.
H-InvDB; HIX0008072; -.
H-InvDB; HIX0034850; -.
H-InvDB; HIX0034865; -.
HGNC; HGNC:640; AQP7.
MalaCards; AQP7; -.
MIM; 602974; gene.
MIM; 614411; phenotype.
neXtProt; NX_O14520; -.
OpenTargets; ENSG00000165269; -.
PharmGKB; PA24925; -.
eggNOG; KOG0224; Eukaryota.
eggNOG; COG0580; LUCA.
GeneTree; ENSGT00510000046311; -.
HOVERGEN; HBG106057; -.
InParanoid; O14520; -.
KO; K08771; -.
OMA; YLGGIIY; -.
OrthoDB; EOG091G0FMS; -.
PhylomeDB; O14520; -.
TreeFam; TF313173; -.
Reactome; R-HSA-432030; Transport of glycerol from adipocytes to the liver by Aquaporins.
Reactome; R-HSA-432047; Passive transport by Aquaporins.
GeneWiki; AQP7; -.
GenomeRNAi; 364; -.
PRO; PR:O14520; -.
Proteomes; UP000005640; Chromosome 9.
Bgee; ENSG00000165269; Expressed in 89 organ(s), highest expression level in apex of heart.
CleanEx; HS_AQP7; -.
CleanEx; HS_AQP9; -.
ExpressionAtlas; O14520; baseline and differential.
Genevisible; O14520; HS.
GO; GO:0005911; C:cell-cell junction; IDA:UniProtKB.
GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
GO; GO:0015254; F:glycerol channel activity; EXP:Reactome.
GO; GO:0015250; F:water channel activity; EXP:Reactome.
GO; GO:0007588; P:excretion; TAS:ProtInc.
GO; GO:0006091; P:generation of precursor metabolites and energy; TAS:ProtInc.
GO; GO:0015793; P:glycerol transport; TAS:Reactome.
GO; GO:0006833; P:water transport; TAS:Reactome.
CDD; cd00333; MIP; 1.
Gene3D; 1.20.1080.10; -; 1.
InterPro; IPR023271; Aquaporin-like.
InterPro; IPR015686; Aquaporin_7.
InterPro; IPR000425; MIP.
PANTHER; PTHR43829:SF12; PTHR43829:SF12; 1.
Pfam; PF00230; MIP; 1.
PRINTS; PR00783; MINTRINSICP.
SUPFAM; SSF81338; SSF81338; 1.
TIGRFAMs; TIGR00861; MIP; 1.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Membrane; Phosphoprotein;
Polymorphism; Reference proteome; Repeat; Transmembrane;
Transmembrane helix; Transport.
CHAIN 1 342 Aquaporin-7.
/FTId=PRO_0000063958.
TOPO_DOM 1 36 Cytoplasmic. {ECO:0000255}.
TRANSMEM 37 57 Helical. {ECO:0000255}.
TOPO_DOM 58 65 Extracellular. {ECO:0000255}.
TRANSMEM 66 86 Helical. {ECO:0000255}.
TOPO_DOM 87 113 Cytoplasmic. {ECO:0000255}.
TRANSMEM 114 134 Helical. {ECO:0000255}.
TOPO_DOM 135 170 Extracellular. {ECO:0000255}.
TRANSMEM 171 191 Helical. {ECO:0000255}.
TOPO_DOM 192 196 Cytoplasmic. {ECO:0000255}.
TRANSMEM 197 217 Helical. {ECO:0000255}.
TOPO_DOM 218 255 Extracellular. {ECO:0000255}.
TRANSMEM 256 276 Helical. {ECO:0000255}.
TOPO_DOM 277 342 Cytoplasmic. {ECO:0000255}.
MOTIF 94 96 NPA 1.
MOTIF 226 228 NPA 2.
MOD_RES 20 20 Phosphoserine.
{ECO:0000250|UniProtKB:P56403}.
VAR_SEQ 1 92 Missing (in isoform 2).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_056249.
VAR_SEQ 248 342 SNGENWWWVPVVAPLLGAYLGGIIYLVFIGSTIPREPLKLE
DSVAYEDHGITVLPKMGSHEPTISPLTPVSVSPANRSSVHP
APPLHESMALEHF -> RYCPCPGPFL (in isoform
2). {ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_056250.
VARIANT 12 12 R -> C (in dbSNP:rs139297434).
{ECO:0000269|PubMed:11952783}.
/FTId=VAR_067253.
VARIANT 38 38 L -> V (in dbSNP:rs2381003).
/FTId=VAR_061343.
VARIANT 59 59 V -> L (in dbSNP:rs4008659).
{ECO:0000269|PubMed:11952783}.
/FTId=VAR_067254.
VARIANT 63 63 K -> T (in dbSNP:rs4008658).
/FTId=VAR_061344.
VARIANT 264 264 G -> V (polymorphism; affects water and
glycerol transport; dbSNP:rs62542743).
{ECO:0000269|PubMed:11952783,
ECO:0000269|PubMed:17566090}.
/FTId=VAR_067255.
SEQUENCE 342 AA; 37232 MW; 8A05F92B977D2F93 CRC64;
MVQASGHRRS TRGSKMVSWS VIAKIQEILQ RKMVREFLAE FMSTYVMMVF GLGSVAHMVL
NKKYGSYLGV NLGFGFGVTM GVHVAGRISG AHMNAAVTFA NCALGRVPWR KFPVYVLGQF
LGSFLAAATI YSLFYTAILH FSGGQLMVTG PVATAGIFAT YLPDHMTLWR GFLNEAWLTG
MLQLCLFAIT DQENNPALPG TEALVIGILV VIIGVSLGMN TGYAINPSRD LPPRIFTFIA
GWGKQVFSNG ENWWWVPVVA PLLGAYLGGI IYLVFIGSTI PREPLKLEDS VAYEDHGITV
LPKMGSHEPT ISPLTPVSVS PANRSSVHPA PPLHESMALE HF


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