2024-03-29 11:08:08, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_080429 1794 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens aquaporin 10 (AQP10), mRNA. ACCESSION NM_080429 VERSION NM_080429.2 GI:22538419 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 1794) AUTHORS Oberg,F., Sjohamn,J., Fischer,G., Moberg,A., Pedersen,A., Neutze,R. and Hedfalk,K. TITLE Glycosylation increases the thermostability of human aquaporin 10 protein JOURNAL J. Biol. Chem. 286 (36), 31915-31923 (2011) PUBMED 21733844 REMARK GeneRIF: the presence of at least one glycosylated protein within each tetramer is sufficient to convey an enhanced structural stability to the remaining hAQP10 protomers of the tetramer. REFERENCE 2 (bases 1 to 1794) AUTHORS Ishii,M., Ohta,K., Katano,T., Urano,K., Watanabe,J., Miyamoto,A., Inoue,K. and Yuasa,H. TITLE Dual functional characteristic of human aquaporin 10 for solute transport JOURNAL Cell. Physiol. Biochem. 27 (6), 749-756 (2011) PUBMED 21691092 REMARK GeneRIF: study unveiled the uniquely dual functional characteristic of hAQP10 as a carrier/channel for solute transport, providing a novel insight into its operation mechanism, which would help further elucidate its physiological role REFERENCE 3 (bases 1 to 1794) AUTHORS Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. CONSRTM DREAM investigators TITLE Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study JOURNAL Diabetes Care 33 (10), 2250-2253 (2010) PUBMED 20628086 REMARK GeneRIF: Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) REFERENCE 4 (bases 1 to 1794) AUTHORS Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C., Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R., Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A., Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C., Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S., Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N., Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D. CONSRTM ASCOT investigators; NORDIL investigators; BRIGHT Consortium TITLE Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip JOURNAL Am. J. Hum. Genet. 85 (5), 628-642 (2009) PUBMED 19913121 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 5 (bases 1 to 1794) AUTHORS Chapuis,J., Hot,D., Hansmannel,F., Kerdraon,O., Ferreira,S., Hubans,C., Maurage,C.A., Huot,L., Bensemain,F., Laumet,G., Ayral,A.M., Fievet,N., Hauw,J.J., DeKosky,S.T., Lemoine,Y., Iwatsubo,T., Wavrant-Devrieze,F., Dartigues,J.F., Tzourio,C., Buee,L., Pasquier,F., Berr,C., Mann,D., Lendon,C., Alperovitch,A., Kamboh,M.I., Amouyel,P. and Lambert,J.C. TITLE Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease JOURNAL Mol. Psychiatry 14 (11), 1004-1016 (2009) PUBMED 19204726 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 6 (bases 1 to 1794) AUTHORS Flach,C.F., Qadri,F., Bhuiyan,T.R., Alam,N.H., Jennische,E., Holmgren,J. and Lonnroth,I. TITLE Differential expression of intestinal membrane transporters in cholera patients JOURNAL FEBS Lett. 581 (17), 3183-3188 (2007) PUBMED 17575980 REFERENCE 7 (bases 1 to 1794) AUTHORS Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z., Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S., McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J., Dunham,I., Hill,D.E. and Vidal,M. TITLE hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes JOURNAL Genomics 89 (3), 307-315 (2007) PUBMED 17207965 REFERENCE 8 (bases 1 to 1794) AUTHORS Li,H., Kamiie,J., Morishita,Y., Yoshida,Y., Yaoita,E., Ishibashi,K. and Yamamoto,T. TITLE Expression and localization of two isoforms of AQP10 in human small intestine JOURNAL Biol. Cell 97 (11), 823-829 (2005) PUBMED 15898950 REMARK GeneRIF: AQP10 with an insertion of 475 nt was localized in the capillary endothelium in villi of the small intestine and the isoform without the insertion localized in the gastro-entero-pancrestic endocrine cells. REFERENCE 9 (bases 1 to 1794) AUTHORS Ishibashi,K., Morinaga,T., Kuwahara,M., Sasaki,S. and Imai,M. TITLE Cloning and identification of a new member of water channel (AQP10) as an aquaglyceroporin JOURNAL Biochim. Biophys. Acta 1576 (3), 335-340 (2002) PUBMED 12084581 REMARK GeneRIF: Results suggest that AQP10 represents a new member of aquaglyceroporins functionally as well as structurally. REFERENCE 10 (bases 1 to 1794) AUTHORS Hatakeyama,S., Yoshida,Y., Tani,T., Koyama,Y., Nihei,K., Ohshiro,K., Kamiie,J.I., Yaoita,E., Suda,T., Hatakeyama,K. and Yamamoto,T. TITLE Cloning of a new aquaporin (AQP10) abundantly expressed in duodenum and jejunum JOURNAL Biochem. Biophys. Res. Commun. 287 (4), 814-819 (2001) PUBMED 11573934 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AB066105.1. On Aug 29, 2002 this sequence version replaced gi:17975594. Summary: This gene encodes a member of the aquaglyceroporin family of integral membrane proteins. Members of this family function as water-permeable channels in the epithelia of organs that absorb and excrete water. This protein was shown to function as a water-selective channel, and could also permeate neutral solutes such as glycerol and urea. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB066105.1, BC074896.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025083, ERS025084 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. FEATURES Location/Qualifiers source 1..1794 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1q21.3" gene 1..1794 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /note="aquaporin 10" /db_xref="GeneID:89872" /db_xref="HGNC:16029" /db_xref="HPRD:07361" /db_xref="MIM:606578" STS 1..1037 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /db_xref="UniSTS:481786" exon 1..145 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /inference="alignment:Splign:1.39.8" STS 4..980 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /db_xref="UniSTS:482063" STS 8..1353 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /db_xref="UniSTS:489981" misc_feature 26..28 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /note="upstream in-frame stop codon" CDS 41..946 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /note="small intestine aquaporin; AQP-10; aquaglyceroporin-10" /codon_start=1 /product="aquaporin-10" /protein_id="NP_536354.2" /db_xref="GI:22538420" /db_xref="CCDS:CCDS1065.1" /db_xref="GeneID:89872" /db_xref="HGNC:16029" /db_xref="HPRD:07361" /db_xref="MIM:606578" /translation="
MVFTQAPAEIMGHLRIRSLLARQCLAEFLGVFVLMLLTQGAVAQAVTSGETKGNFFTMFLAGSLAVTIAIYVGGNVSGAHLNPAFSLAMCIVGRLPWVKLPIYILVQLLSAFCASGATYVLYHDALQNYTGGNLTVTGPKETASIFATYPAPYLSLNNGFLDQVLGTGMLIVGLLAILDRRNKGVPAGLEPVVVGMLILALGLSMGANCGIPLNPARDLGPRLFTYVAGWGPEVFSAGNGWWWVPVVAPLVGATVGTATYQLLVALHHPEGPEPAQDLVSAQHKASELETPASAQMLECKL
" misc_feature 104..829 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /note="Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal...; Region: MIP; cd00333" /db_xref="CDD:29423" misc_feature 122..184 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q96PS8.2); transmembrane region" misc_feature 197..259 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q96PS8.2); transmembrane region" misc_feature order(224..226,278..286,668..673,680..682,689..691) /gene="AQP10" /gene_synonym="AQPA_HUMAN" /note="amphipathic channel; other site" /db_xref="CDD:29423" misc_feature order(284..292,680..688) /gene="AQP10" /gene_synonym="AQPA_HUMAN" /note="Asn-Pro-Ala signature motifs; other site" /db_xref="CDD:29423" misc_feature 284..292 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q96PS8.2); Region: NPA 1" misc_feature 344..406 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q96PS8.2); transmembrane region" misc_feature 509..571 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q96PS8.2); transmembrane region" misc_feature 602..664 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q96PS8.2); transmembrane region" misc_feature 680..688 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q96PS8.2); Region: NPA 2" variation 61 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="g" /replace="t" /db_xref="dbSNP:368763727" variation 84 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="a" /replace="g" /db_xref="dbSNP:6668968" variation 104 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="a" /replace="c" /db_xref="dbSNP:371762595" variation 112 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="t" /db_xref="dbSNP:146318444" variation 141 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="t" /db_xref="dbSNP:375905475" exon 146..272 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /inference="alignment:Splign:1.39.8" variation 201 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="a" /replace="g" /db_xref="dbSNP:77290607" variation 201 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="a" /replace="g" /db_xref="dbSNP:201824170" variation 208 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="t" /db_xref="dbSNP:78213238" variation 208 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="t" /db_xref="dbSNP:200279756" variation 236 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="a" /replace="g" /db_xref="dbSNP:201059654" variation 244 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="a" /replace="g" /db_xref="dbSNP:201098812" variation 255 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="t" /db_xref="dbSNP:199806224" exon 273..410 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /inference="alignment:Splign:1.39.8" variation 323 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="t" /db_xref="dbSNP:372798902" variation 332 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="g" /db_xref="dbSNP:374795337" variation 334 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="t" /db_xref="dbSNP:367711654" variation 340 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="t" /db_xref="dbSNP:140477648" variation 385 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="a" /replace="g" /db_xref="dbSNP:138299081" variation 407 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="t" /db_xref="dbSNP:6685323" variation 409 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="t" /db_xref="dbSNP:61739738" exon 411..529 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /inference="alignment:Splign:1.39.8" variation 496 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="t" /db_xref="dbSNP:148220488" variation 502 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="g" /db_xref="dbSNP:200551947" exon 530..747 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /inference="alignment:Splign:1.39.8" variation 541 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="t" /db_xref="dbSNP:1194610" variation 571 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="t" /db_xref="dbSNP:147224722" variation 595 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="t" /db_xref="dbSNP:376171472" variation 601 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="g" /replace="t" /db_xref="dbSNP:370543262" variation 687 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="t" /db_xref="dbSNP:193133403" variation 701 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="t" /db_xref="dbSNP:372825269" variation 705 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="a" /replace="g" /db_xref="dbSNP:200639079" variation 719 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="a" /replace="g" /db_xref="dbSNP:377590602" variation 741 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="t" /db_xref="dbSNP:370728661" variation 745 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="g" /db_xref="dbSNP:144627448" exon 748..1791 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /inference="alignment:Splign:1.39.8" variation 764 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="g" /replace="t" /db_xref="dbSNP:200974498" variation 776 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="g" /db_xref="dbSNP:148928654" variation 797..798 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="" /replace="c" /db_xref="dbSNP:147478762" variation 802 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="t" /db_xref="dbSNP:41304552" variation 841 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="t" /db_xref="dbSNP:368300859" variation 846 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="" /replace="c" /db_xref="dbSNP:35368642" variation 876 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="g" /replace="t" /db_xref="dbSNP:201240485" variation 879 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="g" /db_xref="dbSNP:201101129" variation 915 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="a" /replace="c" /db_xref="dbSNP:141365858" variation 971 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="t" /db_xref="dbSNP:370961457" variation 976 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="a" /replace="c" /db_xref="dbSNP:375198347" variation 1013 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="a" /replace="t" /db_xref="dbSNP:3892533" variation 1238 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="a" /replace="t" /db_xref="dbSNP:370046876" variation 1293 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="t" /db_xref="dbSNP:374264242" variation 1313 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="a" /replace="g" /db_xref="dbSNP:142224753" variation 1457 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="a" /replace="g" /db_xref="dbSNP:41304275" variation 1498 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="a" /replace="g" /db_xref="dbSNP:377050233" variation 1592 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="a" /replace="g" /db_xref="dbSNP:369480572" variation 1682 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="t" /db_xref="dbSNP:183908821" polyA_signal 1768..1773 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /experiment="experimental evidence, no additional details recorded" variation 1776 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="c" /replace="t" /db_xref="dbSNP:77213139" variation 1777 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /replace="a" /replace="t" /db_xref="dbSNP:75110063" polyA_site 1791 /gene="AQP10" /gene_synonym="AQPA_HUMAN" /experiment="experimental evidence, no additional details recorded" ORIGIN
agacagagggagcagtgaatagcaatagggtgtttccaccatggtcttcactcaggccccggctgaaatcatgggccacctccggatacgcagcctcctggcccggcagtgcctggcagagtttctgggtgtgtttgtactcatgctcctcacccaaggagctgtggcccaggctgtcaccagtggagaaaccaaaggcaacttcttcaccatgtttctggctggctctctggccgttacgatagccatctacgtgggtggtaacgtctcaggggcccacctgaatccagccttctccctggccatgtgcatcgttggacgcctcccctgggtcaagctccccatttacatcttggtgcagttgctgtctgctttctgtgcttcgggagccacctatgttctctaccatgatgccctacagaactatacaggtgggaacctgacagtgactggccccaaggagacagcctccatttttgccacctatcctgccccctatctgtccctgaacaatggcttcctggatcaggttctgggcactgggatgctgattgtggggctcttggccatcctggacagacggaacaagggagtccctgcgggtctggagcctgtggtggtggggatgctgatcctggccctcgggttatccatgggtgccaactgcgggattccactcaaccctgcccgggacctgggcccacgtctcttcacctacgtggctggctggggtcctgaagtcttcagtgctggtaatggctggtggtgggtgcctgtggtggcccctctggtgggggccaccgttggcacagccacttaccagctgttggtggctctgcaccaccctgagggcccagagccagctcaggatctggtgtctgctcaacacaaagcctcagagttggaaactcctgcctcagctcagatgctggagtgtaagctatgattaggacaaccctcacttcactcatggaccctggagccagccactgaccccgcctgggaacaacagtcattcttcctctttgttaatgtgccagaacctgggaggcttctctgtttatctgtttggcatcccttcctcctaaactaagaaggatcctggacagggagaagtggaggaggataaggtaccaggactcaggcttctcatcccctcctcccgcaaagcggttttctgaccctcagggcctctcggaatgtagttgctcgaggtaaccgctagagggtgcgcacctggatgctggatggggacggctgcgggcatctgcagggtggagggggccaccatccagtgtagggcacaaccctggggactgccctccatagcctgtcccgactgccgactcctagctctcatcgcctcggcgcctcccaccttcaccctctcggggatgcctccccaagagggtagttaggggtggggaagccgcctccacccagggggcgtggtgggggcggagggaaggagggcggcggggcacagagacagagagcaaggctgtgaaactgaggcaccgttcctagacatctcggtgctgtgtcgttcattcaaggagagttgagatacagtgaaatgagccagggcgaggagggagggtgaaggaacggagggcgggcggctccgaggagcgagagtcgggctgagggcaacctggcgccagggaaaattctggttattcaccacttctacagctctcctgccgctccctgcagaggatgctcgttttgcagagaaggcagtgttcctctattcccttcttccgaattaaaaataccccctcagagcgaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:89872 -> Molecular function: GO:0005215 [transporter activity] evidence: IEA GeneID:89872 -> Biological process: GO:0006833 [water transport] evidence: TAS GeneID:89872 -> Biological process: GO:0009636 [response to toxic substance] evidence: IDA GeneID:89872 -> Biological process: GO:0055085 [transmembrane transport] evidence: TAS GeneID:89872 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS GeneID:89872 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
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