LOCUS       NM_001318144            1607 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens aquaporin 3 (Gill blood group) (AQP3), transcript
            variant 2, mRNA.
ACCESSION   NM_001318144
VERSION     NM_001318144.2
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 1607)
  AUTHORS   Edamana,S., Login,F.H., Riishede,A., Dam,V.S., Kirkegaard,T. and
            Nejsum,L.N.
  TITLE     The water channels aquaporin-1 and aquaporin-3 interact with and
            affect the cell polarity protein Scribble in 3D in vitro models of
            breast cancer
  JOURNAL   Am J Physiol Cell Physiol 327 (5), C1323-C1334 (2024)
   PUBMED   39279492
  REMARK    GeneRIF: The water channels aquaporin-1 and aquaporin-3 interact
            with and affect the cell polarity protein Scribble in 3D in vitro
            models of breast cancer.
REFERENCE   2  (bases 1 to 1607)
  AUTHORS   Liang,Y., Chen,P., Wang,S., Cai,L., Zhu,F., Jiang,Y., Li,L.,
            Zhu,L., Heng,Y., Zhang,W., Pan,Y., Wei,W. and Jia,L.
  TITLE     SCFFBXW5-mediated degradation of AQP3 suppresses autophagic cell
            death through the PDPK1-AKT-MTOR axis in hepatocellular carcinoma
            cells
  JOURNAL   Autophagy 20 (9), 1984-1999 (2024)
   PUBMED   38726865
  REMARK    GeneRIF: SCF[FBXW5]-mediated degradation of AQP3 suppresses
            autophagic cell death through the PDPK1-AKT-MTOR axis in
            hepatocellular carcinoma cells.
REFERENCE   3  (bases 1 to 1607)
  AUTHORS   Ziehe,D., Marko,B., Thon,P., Rahmel,T., Palmowski,L., Nowak,H., von
            Busch,A., Wolf,A., Witowski,A., Vonheder,J., Ellger,B., Wappler,F.,
            Schwier,E., Henzler,D., Kohler,T., Zarbock,A., Ehrentraut,S.F.,
            Putensen,C., Frey,U.H., Anft,M., Babel,N., Adamzik,M., Koos,B.,
            Bergmann,L., Unterberg,M. and Rump,K.
  CONSRTM   SepsisDataNet.NRW Research Group
  TITLE     The Aquaporin 3 Polymorphism (rs17553719) Is Associated with Sepsis
            Survival and Correlated with IL-33 Secretion
  JOURNAL   Int J Mol Sci 25 (3), 1400 (2024)
   PUBMED   38338680
  REMARK    GeneRIF: The Aquaporin 3 Polymorphism (rs17553719) Is Associated
            with Sepsis Survival and Correlated with IL-33 Secretion.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1607)
  AUTHORS   Thon,P., Rahmel,T., Ziehe,D., Palmowski,L., Marko,B., Nowak,H.,
            Wolf,A., Witowski,A., Orlowski,J., Ellger,B., Wappler,F.,
            Schwier,E., Henzler,D., Kohler,T., Zarbock,A., Ehrentraut,S.F.,
            Putensen,C., Frey,U.H., Anft,M., Babel,N., Sitek,B., Adamzik,M.,
            Bergmann,L., Unterberg,M., Koos,B. and Rump,K.
  CONSRTM   SepsisDataNet.NRW Research Group
  TITLE     AQP3 and AQP9-Contrary Players in Sepsis?
  JOURNAL   Int J Mol Sci 25 (2), 1209 (2024)
   PUBMED   38279209
  REMARK    GeneRIF: AQP3 and AQP9-Contrary Players in Sepsis?
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1607)
  AUTHORS   Roudier,N., Ripoche,P., Gane,P., Le Pennec,P.Y., Daniels,G.,
            Cartron,J.P. and Bailly,P.
  TITLE     AQP3 deficiency in humans and the molecular basis of a novel blood
            group system, GIL
  JOURNAL   J Biol Chem 277 (48), 45854-45859 (2002)
   PUBMED   12239222
  REMARK    GeneRIF: first reported cases of AQP3 deficiency in humans and
            provide the molecular basis of a new blood group system, GIL,
            encoded by the AQP3 protein
REFERENCE   6  (bases 1 to 1607)
  AUTHORS   Inase,N., Fushimi,K., Ishibashi,K., Uchida,S., Ichioka,M.,
            Sasaki,S. and Marumo,F.
  TITLE     Isolation of human aquaporin 3 gene
  JOURNAL   J Biol Chem 270 (30), 17913-17916 (1995)
   PUBMED   7543093
REFERENCE   7  (bases 1 to 1607)
  AUTHORS   Ishibashi,K., Sasaki,S., Saito,F., Ikeuchi,T. and Marumo,F.
  TITLE     Structure and chromosomal localization of a human water channel
            (AQP3) gene
  JOURNAL   Genomics 27 (2), 352-354 (1995)
   PUBMED   7558005
  REMARK    Erratum:[Genomics 1995 Dec 10;30(3):633]
REFERENCE   8  (bases 1 to 1607)
  AUTHORS   Raina,S., Preston,G.M., Guggino,W.B. and Agre,P.
  TITLE     Molecular cloning and characterization of an aquaporin cDNA from
            salivary, lacrimal, and respiratory tissues
  JOURNAL   J Biol Chem 270 (4), 1908-1912 (1995)
   PUBMED   7530250
REFERENCE   9  (bases 1 to 1607)
  AUTHORS   Zeidel,M.L., Ambudkar,S.V., Smith,B.L. and Agre,P.
  TITLE     Reconstitution of functional water channels in liposomes containing
            purified red cell CHIP28 protein
  JOURNAL   Biochemistry 31 (33), 7436-7440 (1992)
   PUBMED   1510932
REFERENCE   10 (bases 1 to 1607)
  AUTHORS   Preston,G.M., Carroll,T.P., Guggino,W.B. and Agre,P.
  TITLE     Appearance of water channels in Xenopus oocytes expressing red cell
            CHIP28 protein
  JOURNAL   Science 256 (5055), 385-387 (1992)
   PUBMED   1373524
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK315760.1, AJ493597.1,
            AL356218.22 and BC013566.1.
            
            On May 31, 2019 this sequence version replaced NM_001318144.1.
            
            Summary: This gene encodes the water channel protein aquaporin 3.
            Aquaporins are a family of small integral membrane proteins related
            to the major intrinsic protein, also known as aquaporin 0.
            Aquaporin 3 is localized at the basal lateral membranes of
            collecting duct cells in the kidney. In addition to its water
            channel function, aquaporin 3 has been found to facilitate the
            transport of nonionic small solutes such as urea and glycerol, but
            to a smaller degree. It has been suggested that water channels can
            be functionally heterogeneous and possess water and solute
            permeation mechanisms. Alternative splicing of this gene results in
            multiple transcript variants encoding different isoforms. [provided
            by RefSeq, Dec 2015].
            
            Transcript Variant: This variant (2) lacks an alternate exon in the
            3' coding region, compared to variant 1. The encoded protein
            (isoform 2) is shorter and has a distinct C-terminus compared to
            isoform 1.
            
            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 :: AJ493597.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155770, SAMEA2156670
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-168               AK315760.1         1-168
            169-452             AJ493597.1         129-412
            453-453             AL356218.22        88607-88607         c
            454-728             AJ493597.1         414-688
            729-1607            BC013566.1         921-1799
FEATURES             Location/Qualifiers
     source          1..1607
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     gene            1..1607
                     /gene="AQP3"
                     /gene_synonym="AQP-3; GIL"
                     /note="aquaporin 3 (Gill blood group)"
                     /db_xref="GeneID:360"
                     /db_xref="HGNC:HGNC:636"
                     /db_xref="MIM:600170"
     exon            1..171
                     /gene="AQP3"
                     /gene_synonym="AQP-3; GIL"
                     /inference="alignment:Splign:2.1.0"
     CDS             64..777
                     /gene="AQP3"
                     /gene_synonym="AQP-3; GIL"
                     /note="isoform 2 is encoded by transcript variant 2;
                     aquaporin 3 (GIL blood group); aquaglyceroporin-3"
                     /codon_start=1
                     /product="aquaporin-3 isoform 2"
                     /protein_id="NP_001305073.1"
                     /db_xref="CCDS:CCDS87649.1"
                     /db_xref="GeneID:360"
                     /db_xref="HGNC:HGNC:636"
                     /db_xref="MIM:600170"
                     /translation="MGRQKELVSRCGEMLHIRYRLLRQALAECLGTLILVMFGCGSVA
                     QVVLSRGTHGGFLTINLAFGFAVTLGILIAGQVSGAHLNPAVTFAMCFLAREPWIKLP
                     IYTLAQTLGAFLGAGIVFGLYYDAIWHFADNQLFVSGPNGTAGIFATYPSGHLDMING
                     FFDQDRPALVVGAHRVPTPGLHCGCLRVPADDRLPPGAAPTLQRGRECEAGPCEAQGA
                     DLSGQGPSPHSAALALSIH"
     exon            172..298
                     /gene="AQP3"
                     /gene_synonym="AQP-3; GIL"
                     /inference="alignment:Splign:2.1.0"
     exon            299..436
                     /gene="AQP3"
                     /gene_synonym="AQP-3; GIL"
                     /inference="alignment:Splign:2.1.0"
     exon            437..555
                     /gene="AQP3"
                     /gene_synonym="AQP-3; GIL"
                     /inference="alignment:Splign:2.1.0"
     exon            556..1607
                     /gene="AQP3"
                     /gene_synonym="AQP-3; GIL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1589..1594
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AQP3"
                     /gene_synonym="AQP-3; GIL"
                     /note="hexamer: AATAAA"
     polyA_site      1607
                     /gene="AQP3"
                     /gene_synonym="AQP-3; GIL"
                     /note="major polyA site"
ORIGIN      
        1 gctcgctgcg ccaccgcctc ccgccacccc tgcccgcccg acagcgccgc cgcctgcccc
       61 gccatgggtc gacagaagga gctggtgtcc cgctgcgggg agatgctcca catccgctac
      121 cggctgctcc gacaggcgct ggccgagtgc ctggggaccc tcatcctggt gatgtttggc
      181 tgtggctccg tggcccaggt tgtgctcagc cggggcaccc acggtggttt cctcaccatc
      241 aacctggcct ttggctttgc tgtcactctg ggcatcctca tcgctggcca ggtctctggg
      301 gcccacctga accctgccgt gacctttgcc atgtgcttcc tggctcgtga gccctggatc
      361 aagctgccca tctacaccct ggcacagacg ctgggagcct tcttgggtgc tggaatagtt
      421 tttgggctgt attatgatgc aatctggcac ttcgccgaca accagctttt tgtttcgggc
      481 cccaatggca cagccggcat ctttgctacc tacccctctg gacacttgga tatgatcaat
      541 ggcttctttg accaggaccg gccagcattg gtggtgggtg cccatcgtgt ccccactcct
      601 gggctccatt gcgggtgtct tcgtgtacca gctgatgatc ggctgccacc tggagcagcc
      661 cccaccctcc aacgaggaag agaatgtgaa gctggcccat gtgaagcaca aggagcagat
      721 ctgagtgggc aggggccatc tccccactcc gctgccctgg ccttgagcat ccactgactg
      781 tccaagggcc actcccaaga agcccccttc acgatccacc ctttcaggct aaggagctcc
      841 ctatctaccc tcaccccacg agacagcccc ttcaggattt ccactggacc ttgcccaaat
      901 agcaccttag gccactgccc ctaagctggg gtggaaccgg aatttgggtc aatacatcct
      961 tttgtctccc aagggaagag aatgggcagc aggtatgtgt gtgtgtgcat gtgtgtgcat
     1021 gtgtgtgcat gtgtgtgcag gggtgtgtgt gtgtgggggg ggttcccaga tattcagggc
     1081 aagggaccag tcggaaggga ttctggctat tgggggagcc cagagacagg ggaaggcagc
     1141 ctgtccatct gtgcataagg agaggaaagt tccagggtgt gtatgtttca ggggcttcac
     1201 atggaggagc tgcagataga tatgtgtttc tgtgtatgtg tatgtctgcc tttttttcta
     1261 agtgggggct tctacaggct tttgggaagt agggtggatg tgggtagggc tgggaggagg
     1321 gggccacagc ttaggtttgg agctctggat gtacatacat aagtaggagc agtgggacgt
     1381 gtttctgtca taatgcaggc atgaagggtg gagtgaagtc aggtcataag tttcatgttt
     1441 gcttttgttt tgttttgttt ttaatgtatg tagcagatgt tacagtctta gggatccggg
     1501 atgggagacc ccactttaga aagggtcgtc actcctttaa tcctctactc aacaatgtac
     1561 tcttttactt ttatattaaa aaaaataaaa taaatatgtg cctaaaa
//
