LOCUS       NM_020980               2849 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens aquaporin 9 (AQP9), transcript variant 1, mRNA.
ACCESSION   NM_020980
VERSION     NM_020980.5
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 2849)
  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   2  (bases 1 to 2849)
  AUTHORS   Olmez,F., Oglak,S.C. and Can,E.
  TITLE     The Implication of Aquaporin-9 in the Pathogenesis of Preterm
            Premature Rupture of Membranes
  JOURNAL   Z Geburtshilfe Neonatol 226 (4), 233-239 (2022)
   PUBMED   35508193
  REMARK    GeneRIF: The Implication of Aquaporin-9 in the Pathogenesis of
            Preterm Premature Rupture of Membranes.
            Erratum:[Z Geburtshilfe Neonatol. 2022 Aug;226(4):e40. doi:
            10.1055/a-1845-2928.. PMID: 35580619]
REFERENCE   3  (bases 1 to 2849)
  AUTHORS   Ren,L., Li,P., Li,Z. and Chen,Q.
  TITLE     AQP9 and ZAP70 as immune-related prognostic biomarkers suppress
            proliferation, migration and invasion of laryngeal cancer cells
  JOURNAL   BMC Cancer 22 (1), 465 (2022)
   PUBMED   35477402
  REMARK    GeneRIF: AQP9 and ZAP70 as immune-related prognostic biomarkers
            suppress proliferation, migration and invasion of laryngeal cancer
            cells.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2849)
  AUTHORS   He,S., Yang,M., Yang,Y., Wang,F., Wang,X., Lu,T., Jiao,M. and Li,Y.
  TITLE     [Association study of single nucleotide polymorphisms of AQP7 and
            AQP9 genes with type 2 diabetes mellitus among ethnic Han Chinese
            population]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 39 (2), 234-239 (2022)
   PUBMED   35076928
  REMARK    GeneRIF: [Association study of single nucleotide polymorphisms of
            AQP7 and AQP9 genes with type 2 diabetes mellitus among ethnic Han
            Chinese population].
REFERENCE   5  (bases 1 to 2849)
  AUTHORS   Geistlinger,K., Schmidt,J.D.R. and Beitz,E.
  TITLE     Lactic Acid Permeability of Aquaporin-9 Enables Cytoplasmic Lactate
            Accumulation via an Ion Trap
  JOURNAL   Life (Basel) 12 (1), 120 (2022)
   PUBMED   35054513
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2849)
  AUTHORS   Kuriyama,H., Kawamoto,S., Ishida,N., Ohno,I., Mita,S.,
            Matsuzawa,Y., Matsubara,K. and Okubo,K.
  TITLE     Molecular cloning and expression of a novel human aquaporin from
            adipose tissue with glycerol permeability
  JOURNAL   Biochem Biophys Res Commun 241 (1), 53-58 (1997)
   PUBMED   9405233
REFERENCE   7  (bases 1 to 2849)
  AUTHORS   Kuwahara,M., Gu,Y., Ishibashi,K., Marumo,F. and Sasaki,S.
  TITLE     Mercury-sensitive residues and pore site in AQP3 water channel
  JOURNAL   Biochemistry 36 (46), 13973-13978 (1997)
   PUBMED   9369468
REFERENCE   8  (bases 1 to 2849)
  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 2849)
  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 2849)
  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 AB008775.1 and AC066616.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_020980.4.
            
            Summary: The aquaporins are a family of water-selective membrane
            channels. This gene encodes a member of a subset of aquaporins
            called the aquaglyceroporins. This protein allows passage of a
            broad range of noncharged solutes and also stimulates urea
            transport and osmotic water permeability. This protein may also
            facilitate the uptake of glycerol in hepatic tissue . The encoded
            protein may also play a role in specialized leukocyte functions
            such as immunological response and bactericidal activity. Alternate
            splicing results in multiple transcript variants. [provided by
            RefSeq, Mar 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: DRR138522.1295416.1,
                                           SRR1803612.80663.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000219919.9/ ENSP00000219919.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-721               AB008775.1         32-752
            722-722             AC066616.7         37765-37765
            723-1019            AB008775.1         754-1050
            1020-1020           AC066616.7         42678-42678
            1021-2245           AB008775.1         1052-2276
            2246-2246           AC066616.7         43904-43904
            2247-2846           AB008775.1         2278-2877
            2847-2849           AC066616.7         44505-44507
FEATURES             Location/Qualifiers
     source          1..2849
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.3"
     gene            1..2849
                     /gene="AQP9"
                     /gene_synonym="AQP-9; HsT17287; SSC1; T17287"
                     /note="aquaporin 9"
                     /db_xref="GeneID:366"
                     /db_xref="HGNC:HGNC:643"
                     /db_xref="MIM:602914"
     exon            1..296
                     /gene="AQP9"
                     /gene_synonym="AQP-9; HsT17287; SSC1; T17287"
                     /inference="alignment:Splign:2.1.0"
     CDS             186..1073
                     /gene="AQP9"
                     /gene_synonym="AQP-9; HsT17287; SSC1; T17287"
                     /note="isoform 1 is encoded by transcript variant 1; small
                     solute channel 1; aquaglyceroporin-9"
                     /codon_start=1
                     /product="aquaporin-9 isoform 1"
                     /protein_id="NP_066190.2"
                     /db_xref="CCDS:CCDS10165.1"
                     /db_xref="GeneID:366"
                     /db_xref="HGNC:HGNC:643"
                     /db_xref="MIM:602914"
                     /translation="MQPEGAEKGKSFKQRLVLKSSLAKETLSEFLGTFILIVLGCGCV
                     AQAILSRGRFGGVITINVGFSMAVAMAIYVAGGVSGGHINPAVSLAMCLFGRMKWFKL
                     PFYVGAQFLGAFVGAATVFGIYYDGLMSFAGGKLLIVGENATAHIFATYPAPYLSLAN
                     AFADQVVATMILLIIVFAIFDSRNLGAPRGLEPIAIGLLIIVIASSLGLNSGCAMNPA
                     RDLSPRLFTALAGWGFEVFRAGNNFWWIPVVGPLVGAVIGGLIYVLVIEIHHPEPDSV
                     FKTEQSEDKPEKYELSVIM"
     exon            297..423
                     /gene="AQP9"
                     /gene_synonym="AQP-9; HsT17287; SSC1; T17287"
                     /inference="alignment:Splign:2.1.0"
     exon            424..561
                     /gene="AQP9"
                     /gene_synonym="AQP-9; HsT17287; SSC1; T17287"
                     /inference="alignment:Splign:2.1.0"
     exon            562..680
                     /gene="AQP9"
                     /gene_synonym="AQP-9; HsT17287; SSC1; T17287"
                     /inference="alignment:Splign:2.1.0"
     exon            681..898
                     /gene="AQP9"
                     /gene_synonym="AQP-9; HsT17287; SSC1; T17287"
                     /inference="alignment:Splign:2.1.0"
     exon            899..2849
                     /gene="AQP9"
                     /gene_synonym="AQP-9; HsT17287; SSC1; T17287"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2826..2831
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AQP9"
                     /gene_synonym="AQP-9; HsT17287; SSC1; T17287"
                     /note="hexamer: AATAAA"
     polyA_site      2849
                     /gene="AQP9"
                     /gene_synonym="AQP-9; HsT17287; SSC1; T17287"
                     /note="major polyA site"
ORIGIN      
        1 ccaccagaag acgattaagc cacagcctct aattggaacg gcatttgtac agtcagagac
       61 tcttaccaga catctccagg aatctgtgag ccattgtcaa aacgtccatt ttcatctggc
      121 tgtgaaagtg aggaccacaa caggtaggta ttggtagaaa caggagtcct cagagaagcc
      181 ccaagatgca gcctgaggga gcagaaaagg gaaaaagctt caagcagaga ctggtcttga
      241 agagcagctt agcgaaagaa accctctctg agttcttggg cacgttcatc ttgattgtcc
      301 ttggatgtgg ctgtgttgcc caagctattc tcagtcgagg acgttttgga ggggtcatca
      361 ctatcaatgt tggattttca atggcagttg caatggccat ttatgtggct ggcggtgtct
      421 ctggtggtca catcaaccca gctgtgtctt tagcaatgtg tctctttgga cggatgaaat
      481 ggttcaaatt gccattttat gtgggagccc agttcttggg agcctttgtg ggggctgcaa
      541 ccgtctttgg catttactat gatggactta tgtcctttgc tggtggaaaa ctgctgatcg
      601 tgggagaaaa tgcaacagca cacatttttg caacataccc agctccgtat ctatctctgg
      661 cgaacgcatt tgcagatcaa gtggtggcca ccatgatact cctcataatc gtctttgcca
      721 tctttgactc cagaaacttg ggagccccca gaggcctaga gcccattgcc atcggcctcc
      781 tgattattgt cattgcttcc tccctgggac tgaacagtgg ctgtgccatg aacccagctc
      841 gagacctgag tcccagactt ttcactgcct tggcaggctg ggggtttgaa gtcttcagag
      901 ctggaaacaa cttctggtgg attcctgtag tgggcccttt ggttggtgct gtcattggag
      961 gcctcatcta tgttcttgtc attgaaatcc accatccaga gcctgactca gtctttaaga
     1021 cagaacaatc tgaggacaaa ccagagaaat atgaactcag tgtcatcatg tagtggcatg
     1081 ctcagctctg gatttgcagt cagtttggga ttctcttcag aaagatggca tctaagtgtc
     1141 tgtgttcttg taagcctgag gtggaatcca cccagttttg tctgctagcc atatgggaca
     1201 tctaattgga aaagcatctg cataaaagtt tggaaacaat gaccacttct ctaccattgt
     1261 cccccacccc caccccccag aataacgctg actgtcccct gaaacagcct tctctcctgc
     1321 cctgtttatt tcatcctcga tgggaattct tgctaggtaa gcactaataa ctcggcatct
     1381 tgacgatagt cccatttggg tggtttcagc tgcactatct gtatgaaatg gtgtcaccaa
     1441 aacccttttc ttcagtatcg acaaagatta cattctgagt accaaccaaa ccctaaattg
     1501 aaagacaaaa ctatggtttc agtcaacata ttcatgaatt agggagctaa tgggttaagc
     1561 ttccagttcc cgctatgcta ctggatttgt ataaatactg atattctcca aacctagtgg
     1621 tgtagggagc aagagaatgc agctggaagg cacaagggga ggacattgtg gcattcagaa
     1681 actgcaggag acaagatgaa tttgagaagc caaatggaat ttttaatgga aaccatttat
     1741 cagattaatc tcttgctctc ctgcatttta gaggacacca attaatttcc tggtctttag
     1801 tatataataa cctaaaatac cattgtaacc tcagtcatga aaaatacatc actctgtctt
     1861 tttagctcaa atgtattttc ctaattgccc acttgagaac agacatttga caagttatat
     1921 caacgactgt gcttgtccat tattttacac atgccctaga agccaaaact gaaagccact
     1981 ggatcctggt ctagctgaat cttcagagtg ggaggtctcc aaaaagatat taccttattg
     2041 ggcttaacaa ttcacaaggc actttcacac ccattatcta atttaatcct cataatgact
     2101 atgtgaggca aatgccacat tgcccatttt tcagataaag aaacaaaatc ttagggaaga
     2161 taagttgagt tgtccaagag cacactgaaa gttgaatgtt atctaatgca ttcctctacc
     2221 tttcagaaga tcagtagctg gctgacaatc tttgccaaat cttccttgct agccagaagt
     2281 ggaattggca gcttctagaa tatgtacacc tctggacaaa atgttcctca atcttaagat
     2341 acaaagaccc tcattgtctg ggtctattcc cacacttact gagtacagat gaaggaaagt
     2401 ggtagcaatt taatcataac tttcatttgc tgaaaaacat tatgagaagg cctcccttcc
     2461 taagccacct ctggtcttgc taagtcttga tcttgcttcc tgccagcacc aaacattaca
     2521 ttcaggggat ttcctctggc tcagtctttt ccccttgaag ttctctaata gatgttactt
     2581 ttgacaaaag atcgcctatg agttacaagc accaggggat gctctacatc aagggatgca
     2641 ccttcagtca aactgtcaaa aagcccagaa ttcccaaagg cattaggttt cccaactgct
     2701 ttgtgctgat atcagaacag cagaaattaa atgtgaaatg tttctgatga cttatgttct
     2761 acaatctatg gacatacggg attttttttt cttgctttga agctacctgg atatttccta
     2821 tttgaaataa aattgttcgg tcattgttg
//
