LOCUS       NM_001651               1449 bp    mRNA    linear   PRI 03-SEP-2024
DEFINITION  Homo sapiens aquaporin 5 (AQP5), mRNA.
ACCESSION   NM_001651
VERSION     NM_001651.4
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 1449)
  AUTHORS   Del Cano,L.R., South,A.P., O'Toole,E.A., Kelsell,D.P. and
            Blaydon,D.C.
  TITLE     A Role for Aquaporin-5 Variants in Regulation of the Actin
            Cytoskeleton in Non-Epidermolytic Palmoplantar Keratoderma
  JOURNAL   J Invest Dermatol 144 (9), 2092-2096 (2024)
   PUBMED   38527693
  REMARK    GeneRIF: A Role for Aquaporin-5 Variants in Regulation of the Actin
            Cytoskeleton in Non-Epidermolytic Palmoplantar Keratoderma.
REFERENCE   2  (bases 1 to 1449)
  AUTHORS   Lin,J., Lin,M., Du,Q., Tu,Y. and Chen,J.
  TITLE     Involvement of aquaporin 5 and Na-K-2Cl cotransporter 1 in the
            pathogenesis of primary focal hyperhidrosis: evidence from the
            primary sweat gland cell culture
  JOURNAL   Am J Physiol Cell Physiol 326 (1), C206-C213 (2024)
   PUBMED   38047298
  REMARK    GeneRIF: Involvement of aquaporin 5 and Na-K-2Cl cotransporter 1 in
            the pathogenesis of primary focal hyperhidrosis: evidence from the
            primary sweat gland cell culture.
REFERENCE   3  (bases 1 to 1449)
  AUTHORS   Jaskiewicz,L., Romaszko-Wojtowicz,A., Doboszynska,A. and
            Skowronska,A.
  TITLE     The Role of Aquaporin 5 (AQP5) in Lung Adenocarcinoma: A Review
            Article
  JOURNAL   Cells 12 (3), 468 (2023)
   PUBMED   36766810
  REMARK    GeneRIF: The Role of Aquaporin 5 (AQP5) in Lung Adenocarcinoma: A
            Review Article.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1449)
  AUTHORS   Jang,S.J. and Moon,C.
  TITLE     Aquaporin 5 (AQP5) expression in breast cancer and its
            clinicopathological characteristics
  JOURNAL   PLoS One 18 (1), e0270752 (2023)
   PUBMED   36706090
  REMARK    GeneRIF: Aquaporin 5 (AQP5) expression in breast cancer and its
            clinicopathological characteristics.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1449)
  AUTHORS   Cao,X., Yin,J., Wang,H., Zhao,J., Zhang,J., Dai,L., Zhang,J.,
            Jiang,H., Lin,Z. and Yang,Y.
  TITLE     Mutation in AQP5, encoding aquaporin 5, causes palmoplantar
            keratoderma Bothnia type
  JOURNAL   J Invest Dermatol 134 (1), 284-287 (2014)
   PUBMED   23867895
  REMARK    GeneRIF: We described a Chinese family with palmoplantar
            keratoderma Bothnia type in which we identified a gain-of-function
            mutation in AQP5.
REFERENCE   6  (bases 1 to 1449)
  AUTHORS   Ma,T., Yang,B., Umenishi,F. and Verkman,A.S.
  TITLE     Closely spaced tandem arrangement of AQP2, AQP5, and AQP6 genes in
            a 27-kilobase segment at chromosome locus 12q13
  JOURNAL   Genomics 43 (3), 387-389 (1997)
   PUBMED   9268644
REFERENCE   7  (bases 1 to 1449)
  AUTHORS   Lee,M.D., Bhakta,K.Y., Raina,S., Yonescu,R., Griffin,C.A.,
            Copeland,N.G., Gilbert,D.J., Jenkins,N.A., Preston,G.M. and Agre,P.
  TITLE     The human Aquaporin-5 gene. Molecular characterization and
            chromosomal localization
  JOURNAL   J Biol Chem 271 (15), 8599-8604 (1996)
   PUBMED   8621489
REFERENCE   8  (bases 1 to 1449)
  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 1449)
  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 1449)
  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 AC025154.31, BC032946.1,
            BP272197.1 and BX095029.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_001651.3.
            
            Summary: Aquaporin 5 (AQP5) is a water channel protein.  Aquaporins
            are a family of small integral membrane proteins related to the
            major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in
            the generation of saliva, tears and pulmonary secretions. AQP0,
            AQP2, AQP5, and AQP6 are closely related and all map to 12q13.
            [provided by RefSeq, Jul 2008].
            
            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 :: ERR279838.1998.1, ERR279835.2201.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000293599.7/ ENSP00000293599.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-79                AC025154.31        14262-14340
            80-1231             BC032946.1         6-1157
            1232-1330           BP272197.1         495-593
            1331-1449           BX095029.1         240-358
FEATURES             Location/Qualifiers
     source          1..1449
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     gene            1..1449
                     /gene="AQP5"
                     /gene_synonym="AQP-5; PPKB"
                     /note="aquaporin 5"
                     /db_xref="GeneID:362"
                     /db_xref="HGNC:HGNC:638"
                     /db_xref="MIM:600442"
     exon            1..509
                     /gene="AQP5"
                     /gene_synonym="AQP-5; PPKB"
                     /inference="alignment:Splign:2.1.0"
     CDS             147..944
                     /gene="AQP5"
                     /gene_synonym="AQP-5; PPKB"
                     /codon_start=1
                     /product="aquaporin-5"
                     /protein_id="NP_001642.1"
                     /db_xref="CCDS:CCDS8793.1"
                     /db_xref="GeneID:362"
                     /db_xref="HGNC:HGNC:638"
                     /db_xref="MIM:600442"
                     /translation="MKKEVCSVAFLKAVFAEFLATLIFVFFGLGSALKWPSALPTILQ
                     IALAFGLAIGTLAQALGPVSGGHINPAITLALLVGNQISLLRAFFYVAAQLVGAIAGA
                     GILYGVAPLNARGNLAVNALNNNTTQGQAMVVELILTFQLALCIFASTDSRRTSPVGS
                     PALSIGLSVTLGHLVGIYFTGCSMNPARSFGPAVVMNRFSPAHWVFWVGPIVGAVLAA
                     ILYFYLLFPNSLSLSERVAIIKGTYEPDEDWEEQREERKKTMELTTR"
     exon            510..674
                     /gene="AQP5"
                     /gene_synonym="AQP-5; PPKB"
                     /inference="alignment:Splign:2.1.0"
     exon            675..758
                     /gene="AQP5"
                     /gene_synonym="AQP-5; PPKB"
                     /inference="alignment:Splign:2.1.0"
     exon            759..1449
                     /gene="AQP5"
                     /gene_synonym="AQP-5; PPKB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1430..1435
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AQP5"
                     /gene_synonym="AQP-5; PPKB"
                     /note="hexamer: AATAAA"
     polyA_site      1449
                     /gene="AQP5"
                     /gene_synonym="AQP-5; PPKB"
                     /note="major polyA site"
ORIGIN      
        1 aggccgccag cctcggagtg ggcgcgggac agtgcgcggc gccccgcagc caggcccccg
       61 cccccgccgc atccacctcc tccgccgcct gcgacccaac gggcgccccc cgccgcggca
      121 gctgccgccg ggcccccgcg gccaccatga agaaggaggt gtgctccgtg gccttcctca
      181 aggccgtgtt cgcagagttc ttggccaccc tcatcttcgt cttctttggc ctgggctcgg
      241 ccctcaagtg gccgtcggcg ctgcctacca tcctgcagat cgcgctggcg tttggcctgg
      301 ccataggcac gctggcccag gccctgggac ccgtgagcgg cggccacatc aaccccgcca
      361 tcaccctggc cctcttggtg ggcaaccaga tctcgctgct ccgggctttc ttctacgtgg
      421 cggcccagct ggtgggcgcc attgccgggg ctggcatcct ctacggtgtg gcaccgctca
      481 atgcccgggg caatctggcc gtcaacgcgc tcaacaacaa cacaacgcag ggccaggcca
      541 tggtggtgga gctgattctg accttccagc tggcactctg catcttcgcc tccactgact
      601 cccgccgcac cagccctgtg ggctccccag ccctgtccat tggcctgtct gtcaccctgg
      661 gccaccttgt cggaatctac ttcactggct gctccatgaa cccagcccgc tcttttggcc
      721 ctgcggtggt catgaatcgg ttcagccccg ctcactgggt tttctgggta gggcccatcg
      781 tgggggcggt cctggctgcc atcctttact tctacctgct cttccccaac tccctgagcc
      841 tgagtgagcg tgtggccatc atcaaaggca cgtatgagcc tgacgaggac tgggaggagc
      901 agcgggaaga gcggaagaag accatggagc tgaccacccg ctgaccagtg tcaggcaggg
      961 gccagcccct cagcccctga gccaaggggg aaaagaagaa aaagtaccta acacaagctt
     1021 cctttttgca caaccggtcc tcttggctga ggaggaggag ctggtcaccc tggctgcaca
     1081 gttagagagg ggagaaggaa cccatgatgg gactcctggg gtaggggcca ggggctgggg
     1141 tctgctgggg acaggtctct ctgggacaga cctcagagat tgtgaatgca gtgccaagct
     1201 cacaggctgc aagggccagg ccagaaaagg gcgggcctgc agcctgcacc ccccaccttc
     1261 cccaaccctt cctcaagagc tgaagggatc ccagccccta ggtgggcaga ggcagaccct
     1321 ccccagagct ccttaggaag aagacagact ggttcattga atgccgcctt atttatttct
     1381 ggtgaggatg catgcgtggg gctgctggtg tttagagtgg gggctaccca ataaatcact
     1441 gatactcac
//
