LOCUS       NM_004925               1825 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens aquaporin 3 (Gill blood group) (AQP3), transcript
            variant 1, mRNA.
ACCESSION   NM_004925
VERSION     NM_004925.5
KEYWORDS    RefSeq; MANE Select.
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 1825)
  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 1825)
  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 1825)
  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 1825)
  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 1825)
  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 1825)
  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 1825)
  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 1825)
  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 1825)
  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 1825)
  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 and BC013566.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004925.4.
            
            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 (1) represents the longer
            transcript and encodes the longer 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 :: SRR5189658.212200.1,
                                           SRR5189655.178129.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2145893
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000297991.6/ ENSP00000297991.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-942               AK315760.1         1-942
            943-1825            BC013566.1         917-1799
FEATURES             Location/Qualifiers
     source          1..1825
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     gene            1..1825
                     /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..942
                     /gene="AQP3"
                     /gene_synonym="AQP-3; GIL"
                     /note="isoform 1 is encoded by transcript variant 1;
                     aquaporin 3 (GIL blood group); aquaglyceroporin-3"
                     /codon_start=1
                     /product="aquaporin-3 isoform 1"
                     /protein_id="NP_004916.1"
                     /db_xref="CCDS:CCDS6542.1"
                     /db_xref="GeneID:360"
                     /db_xref="HGNC:HGNC:636"
                     /db_xref="MIM:600170"
                     /translation="MGRQKELVSRCGEMLHIRYRLLRQALAECLGTLILVMFGCGSVA
                     QVVLSRGTHGGFLTINLAFGFAVTLGILIAGQVSGAHLNPAVTFAMCFLAREPWIKLP
                     IYTLAQTLGAFLGAGIVFGLYYDAIWHFADNQLFVSGPNGTAGIFATYPSGHLDMING
                     FFDQFIGTASLIVCVLAIVDPYNNPVPRGLEAFTVGLVVLVIGTSMGFNSGYAVNPAR
                     DFGPRLFTALAGWGSAVFTTGQHWWWVPIVSPLLGSIAGVFVYQLMIGCHLEQPPPSN
                     EEENVKLAHVKHKEQI"
     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..773
                     /gene="AQP3"
                     /gene_synonym="AQP-3; GIL"
                     /inference="alignment:Splign:2.1.0"
     exon            774..1825
                     /gene="AQP3"
                     /gene_synonym="AQP-3; GIL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1807..1812
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AQP3"
                     /gene_synonym="AQP-3; GIL"
                     /note="hexamer: AATAAA"
     polyA_site      1825
                     /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 accagttcat aggcacagcc tcccttatcg tgtgtgtgct ggccattgtt
      601 gacccctaca acaaccccgt cccccgaggc ctggaggcct tcaccgtggg cctggtggtc
      661 ctggtcattg gcacctccat gggcttcaac tccggctatg ccgtcaaccc tgcccgggac
      721 tttggccccc gcctttttac agcccttgcg ggctggggct ctgcagtctt cacgaccggc
      781 cagcattggt ggtgggtgcc catcgtgtcc ccactcctgg gctccattgc gggtgtcttc
      841 gtgtaccagc tgatgatcgg ctgccacctg gagcagcccc caccctccaa cgaggaagag
      901 aatgtgaagc tggcccatgt gaagcacaag gagcagatct gagtgggcag gggccatctc
      961 cccactccgc tgccctggcc ttgagcatcc actgactgtc caagggccac tcccaagaag
     1021 cccccttcac gatccaccct ttcaggctaa ggagctccct atctaccctc accccacgag
     1081 acagcccctt caggatttcc actggacctt gcccaaatag caccttaggc cactgcccct
     1141 aagctggggt ggaaccggaa tttgggtcaa tacatccttt tgtctcccaa gggaagagaa
     1201 tgggcagcag gtatgtgtgt gtgtgcatgt gtgtgcatgt gtgtgcatgt gtgtgcaggg
     1261 gtgtgtgtgt gtgggggggg ttcccagata ttcagggcaa gggaccagtc ggaagggatt
     1321 ctggctattg ggggagccca gagacagggg aaggcagcct gtccatctgt gcataaggag
     1381 aggaaagttc cagggtgtgt atgtttcagg ggcttcacat ggaggagctg cagatagata
     1441 tgtgtttctg tgtatgtgta tgtctgcctt tttttctaag tgggggcttc tacaggcttt
     1501 tgggaagtag ggtggatgtg ggtagggctg ggaggagggg gccacagctt aggtttggag
     1561 ctctggatgt acatacataa gtaggagcag tgggacgtgt ttctgtcata atgcaggcat
     1621 gaagggtgga gtgaagtcag gtcataagtt tcatgtttgc ttttgttttg ttttgttttt
     1681 aatgtatgta gcagatgtta cagtcttagg gatccgggat gggagacccc actttagaaa
     1741 gggtcgtcac tcctttaatc ctctactcaa caatgtactc ttttactttt atattaaaaa
     1801 aaataaaata aatatgtgcc taaaa
//
