LOCUS       NM_198098               2754 bp    mRNA    linear   PRI 08-DEC-2024
DEFINITION  Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript
            variant 1, mRNA.
ACCESSION   NM_198098
VERSION     NM_198098.4
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 2754)
  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 2754)
  AUTHORS   Shabanian,K., Shabanian,T., Karsai,G., Pontiggia,L., Paneni,F.,
            Ruschitzka,F., Beer,J.H. and Saeedi Saravi,S.S.
  TITLE     AQP1 differentially orchestrates endothelial cell senescence
  JOURNAL   Redox Biol 76, 103317 (2024)
   PUBMED   39180980
  REMARK    GeneRIF: AQP1 differentially orchestrates endothelial cell
            senescence.
REFERENCE   3  (bases 1 to 2754)
  AUTHORS   Wen,Z. and Ablimit,A.
  TITLE     Aquaporin 1 aggravates lipopolysaccharide-induced macrophage
            polarization and pyroptosis
  JOURNAL   Sci Rep 14 (1), 18569 (2024)
   PUBMED   39127771
  REMARK    GeneRIF: Aquaporin 1 aggravates lipopolysaccharide-induced
            macrophage polarization and pyroptosis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2754)
  AUTHORS   Sui,H., Han,B.G., Lee,J.K., Walian,P. and Jap,B.K.
  TITLE     Structural basis of water-specific transport through the AQP1 water
            channel
  JOURNAL   Nature 414 (6866), 872-878 (2001)
   PUBMED   11780053
REFERENCE   5  (bases 1 to 2754)
  AUTHORS   Mathai,J.C., Mori,S., Smith,B.L., Preston,G.M., Mohandas,N.,
            Collins,M., van Zijl,P.C., Zeidel,M.L. and Agre,P.
  TITLE     Functional analysis of aquaporin-1 deficient red cells. The
            Colton-null phenotype
  JOURNAL   J Biol Chem 271 (3), 1309-1313 (1996)
   PUBMED   8576117
REFERENCE   6  (bases 1 to 2754)
  AUTHORS   Moon,C., Preston,G.M., Griffin,C.A., Jabs,E.W. and Agre,P.
  TITLE     The human aquaporin-CHIP gene. Structure, organization, and
            chromosomal localization
  JOURNAL   J Biol Chem 268 (21), 15772-15778 (1993)
   PUBMED   8340403
REFERENCE   7  (bases 1 to 2754)
  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   8  (bases 1 to 2754)
  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
REFERENCE   9  (bases 1 to 2754)
  AUTHORS   Preston,G.M. and Agre,P.
  TITLE     Isolation of the cDNA for erythrocyte integral membrane protein of
            28 kilodaltons: member of an ancient channel family
  JOURNAL   Proc Natl Acad Sci U S A 88 (24), 11110-11114 (1991)
   PUBMED   1722319
REFERENCE   10 (bases 1 to 2754)
  AUTHORS   Smith,B.L. and Agre,P.
  TITLE     Erythrocyte Mr 28,000 transmembrane protein exists as a
            multisubunit oligomer similar to channel proteins
  JOURNAL   J Biol Chem 266 (10), 6407-6415 (1991)
   PUBMED   2007592
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA197236.1, M77829.1 and
            AC005155.1.
            
            On Feb 27, 2020 this sequence version replaced NM_198098.3.
            
            Summary: This gene encodes a small integral membrane protein with
            six bilayer spanning domains that functions as a water channel
            protein. This protein permits passive transport of water along an
            osmotic gradient. This gene is a possible candidate for disorders
            involving imbalance in ocular fluid movement. [provided by RefSeq,
            Aug 2016].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes 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 :: BC022486.1, U41518.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311813.11/ ENSP00000311165.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                DA197236.1         160-178
            20-1359             M77829.1           1-1340
            1360-2754           AC005155.1         10726-12120
FEATURES             Location/Qualifiers
     source          1..2754
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     gene            1..2754
                     /gene="AQP1"
                     /gene_synonym="AQP-CHIP; CHIP28; CO"
                     /note="aquaporin 1 (Colton blood group)"
                     /db_xref="GeneID:358"
                     /db_xref="HGNC:HGNC:633"
                     /db_xref="MIM:107776"
     exon            1..441
                     /gene="AQP1"
                     /gene_synonym="AQP-CHIP; CHIP28; CO"
                     /inference="alignment:Splign:2.1.0"
     CDS             58..867
                     /gene="AQP1"
                     /gene_synonym="AQP-CHIP; CHIP28; CO"
                     /EC_number="2.7.1.21"
                     /note="isoform 1 is encoded by transcript variant 1;
                     aquaporin 1 (channel-forming integral protein, 28kDa, CO
                     blood group); bloodgroup CO protein; channel-like integral
                     membrane protein, 28-kDa; aquaporin-CHIP; urine water
                     channel; Colton blood group antigen; water channel protein
                     for red blood cells and kidney proximal tubule; aquaporin
                     1, Colton blood group antigen; channel-like integral
                     membrane protein of 28 kDa"
                     /codon_start=1
                     /product="aquaporin-1 isoform 1"
                     /protein_id="NP_932766.1"
                     /db_xref="CCDS:CCDS5431.1"
                     /db_xref="GeneID:358"
                     /db_xref="HGNC:HGNC:633"
                     /db_xref="MIM:107776"
                     /translation="MASEFKKKLFWRAVVAEFLATTLFVFISIGSALGFKYPVGNNQT
                     AVQDNVKVSLAFGLSIATLAQSVGHISGAHLNPAVTLGLLLSCQISIFRALMYIIAQC
                     VGAIVATAILSGITSSLTGNSLGRNDLADGVNSGQGLGIEIIGTLQLVLCVLATTDRR
                     RRDLGGSAPLAIGLSVALGHLLAIDYTGCGINPARSFGSAVITHNFSNHWIFWVGPFI
                     GGALAVLIYDFILAPRSSDLTDRVKVWTSGQVEEYDLDADDINSRVEMKPK"
     exon            442..606
                     /gene="AQP1"
                     /gene_synonym="AQP-CHIP; CHIP28; CO"
                     /inference="alignment:Splign:2.1.0"
     exon            607..687
                     /gene="AQP1"
                     /gene_synonym="AQP-CHIP; CHIP28; CO"
                     /inference="alignment:Splign:2.1.0"
     exon            688..2754
                     /gene="AQP1"
                     /gene_synonym="AQP-CHIP; CHIP28; CO"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2729..2734
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AQP1"
                     /gene_synonym="AQP-CHIP; CHIP28; CO"
                     /note="hexamer: AATAAA"
     polyA_site      2754
                     /gene="AQP1"
                     /gene_synonym="AQP-CHIP; CHIP28; CO"
                     /note="major polyA site"
ORIGIN      
        1 agctctcaga gggaattgag cacccggcag cggtctcagg ccaagccccc tgccagcatg
       61 gccagcgagt tcaagaagaa gctcttctgg agggcagtgg tggccgagtt cctggccacg
      121 accctctttg tcttcatcag catcggttct gccctgggct tcaaataccc ggtggggaac
      181 aaccagacgg cggtccagga caacgtgaag gtgtcgctgg ccttcgggct gagcatcgcc
      241 acgctggcgc agagtgtggg ccacatcagc ggcgcccacc tcaacccggc tgtcacactg
      301 gggctgctgc tcagctgcca gatcagcatc ttccgtgccc tcatgtacat catcgcccag
      361 tgcgtggggg ccatcgtcgc caccgccatc ctctcaggca tcacctcctc cctgactggg
      421 aactcgcttg gccgcaatga cctggctgat ggtgtgaact cgggccaggg cctgggcatc
      481 gagatcatcg ggaccctcca gctggtgcta tgcgtgctgg ctactaccga ccggaggcgc
      541 cgtgaccttg gtggctcagc cccccttgcc atcggcctct ctgtagccct tggacacctc
      601 ctggctattg actacactgg ctgtgggatt aaccctgctc ggtcctttgg ctccgcggtg
      661 atcacacaca acttcagcaa ccactggatt ttctgggtgg ggccattcat cgggggagcc
      721 ctggctgtac tcatctacga cttcatcctg gccccacgca gcagtgacct cacagaccgc
      781 gtgaaggtgt ggaccagcgg ccaggtggag gagtatgacc tggatgccga cgacatcaac
      841 tccagggtgg agatgaagcc caaatagaag gggtctggcc cgggcatcca cgtagggggc
      901 aggggcaggg gcgggcggag ggaggggagg ggtgaaatcc atactgtaga cactctgaca
      961 agctggccaa agtcacttcc ccaagatctg ccagacctgc atggtcaagc ctcttatggg
     1021 ggtgtttcta tctctttctt tctctttctg tttcctggcc tcagagcttc ctggggacca
     1081 agatttacca attcacccac tcccttgaag ttgtggagga ggtgaaagaa agggacccac
     1141 ctgctagtcg cccctcagag catgatggga ggtgtgccag aaagtccccc ctcgccccaa
     1201 agttgctcac cgactcacct gcgcaagtgc ctgggattct accgtaattg ctttgtgcct
     1261 ttgggcacgg ccctccttct tttcctaaca tgcaccttgc tcccaatggt gcttggaggg
     1321 ggaagagatc ccaggaggtg cagtggaggg ggcaagcttt gctccttcag ttctgcttgc
     1381 tcccaagccc ctgacccgct cggacttact gcctgacctt ggaatcgtcc ctatatcagg
     1441 gcctgagtga cctccttctg caaagtggca gggaccggca gagctctaca ggcctgcagc
     1501 ccctaagtgc aaacacagca tgggtccaga agacgtggtc tagaccaggg ctgctctttc
     1561 cacttgccct gtgttctttc cccaggggca tgactgtcgc cacacgcctc tgtgtacatg
     1621 tgtgcagagc agacaggcta caaagcagag atcgacagac agccaggtag ttggaacttt
     1681 ctgttcccta tggagaggct tccctacaca gggcctgcta ttgcagaatg aagccattta
     1741 gagggtgaag gagaaatacc catgttactt ctctgagttt tagttggtct ttccatctat
     1801 cactgcatta tcttgctcat tcttcagttc tctactccct cttgtcagtg tagacacagg
     1861 tcaccattat gctggtgtat gtttatcaaa gagcacttga gctgtctgaa gcccaaagcc
     1921 tgaggacaga aagaccctga tgcaggtcag cccatggagg cagatgccct tgctgggcct
     1981 gggggttttc caagccctca gctggtcctg accaggatgg agcaagctct tcccttgctc
     2041 atgagctcct gatcagaggc atttgagcag ctgaataacc tgcacaggct tgctgtatga
     2101 cccctggcca cagccttccc tctgcattga cctggagggg agaggtcagc cttgacctaa
     2161 tgaggtagct atagttgcag cccaaggaca gttcagagat caggatcagc tttgaaggct
     2221 ggattctatc tacataagtc ctttcaattc caccagggcc agagcagctc caccactgtg
     2281 cacttagcca tgatggcaac agaaaccaag agacacaatt acgcaggtat ttagaagcag
     2341 agggacaacc agaaggccct taactatcac cagtgcatca catctgcaca ctctcttctc
     2401 cattccctag caggaacttc tagctcattt aacagataaa gaaactgagg cccacggttt
     2461 cagctagaca atgatttggc caggcctagt aaccaaggcc ctgtctctgg ctactccctg
     2521 gaccacgagg ctgattcctc tcatttccag cttctcagtt tctgcctggg caatggccag
     2581 gggccaggag tggggagagt tgtgatggag gggagagggg tcacacccac cccctgcctg
     2641 gttctaggct gctgcacacc aaggccctgc atctgtctgc tctgcatata tgtctctttg
     2701 gagttggaat ttcattatat gttaagaaaa taaaggaaaa tgacttgtaa ggtc
//
