LOCUS       NM_001170               3064 bp    mRNA    linear   PRI 27-APR-2025
DEFINITION  Homo sapiens aquaporin 7 (AQP7), transcript variant 1, mRNA.
ACCESSION   NM_001170
VERSION     NM_001170.3
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 3064)
  AUTHORS   Liu,J., Xia,Z., Peng,S., Xia,J., Xu,R., Wang,X., Li,F. and Zhu,W.
  TITLE     The Important Role of Aquaglyceroporin 7 in Health and Disease
  JOURNAL   Biomolecules 14 (10), 1228 (2024)
   PUBMED   39456161
  REMARK    GeneRIF: The Important Role of Aquaglyceroporin 7 in Health and
            Disease.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3064)
  AUTHORS   Ribeiro,J.C., Bernardino,R.L., Goncalves,A., Barros,A.,
            Calamita,G., Alves,M.G. and Oliveira,P.F.
  TITLE     Aquaporin-7-Mediated Glycerol Permeability Is Linked to Human Sperm
            Motility in Asthenozoospermia and during Sperm Capacitation
  JOURNAL   Cells 12 (15), 2003 (2023)
   PUBMED   37566082
  REMARK    GeneRIF: Aquaporin-7-Mediated Glycerol Permeability Is Linked to
            Human Sperm Motility in Asthenozoospermia and during Sperm
            Capacitation.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3064)
  AUTHORS   Huang,P., Venskutonyte,R., Prasad,R.B., Ardalani,H., de Mare,S.W.,
            Fan,X., Li,P., Spegel,P., Yan,N., Gourdon,P., Artner,I. and
            Lindkvist-Petersson,K.
  TITLE     Cryo-EM structure supports a role of AQP7 as a junction protein
  JOURNAL   Nat Commun 14 (1), 600 (2023)
   PUBMED   36737436
  REMARK    GeneRIF: Cryo-EM structure supports a role of AQP7 as a junction
            protein.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3064)
  AUTHORS   Plaza,A., Merino,B. and Ruiz-Gayo,M.
  TITLE     Cholecystokinin promotes functional expression of the aquaglycerol
            channel aquaporin 7 in adipocytes
  JOURNAL   Br J Pharmacol 179 (16), 4092-4106 (2022)
   PUBMED   35366004
  REMARK    GeneRIF: Cholecystokinin promotes functional expression of the
            aquaglycerol channel aquaporin 7 in adipocytes.
REFERENCE   5  (bases 1 to 3064)
  AUTHORS   Kondo,H., Shimomura,I., Kishida,K., Kuriyama,H., Makino,Y.,
            Nishizawa,H., Matsuda,M., Maeda,N., Nagaretani,H., Kihara,S.,
            Kurachi,Y., Nakamura,T., Funahashi,T. and Matsuzawa,Y.
  TITLE     Human aquaporin adipose (AQPap) gene. Genomic structure, promoter
            analysis and functional mutation
  JOURNAL   Eur J Biochem 269 (7), 1814-1826 (2002)
   PUBMED   11952783
  REMARK    GeneRIF: determination of genomic structure, promotor analysis and
            functional mutation
REFERENCE   6  (bases 1 to 3064)
  AUTHORS   Ishibashi,K., Yamauchi,K., Kageyama,Y., Saito-Ohara,F., Ikeuchi,T.,
            Marumo,F. and Sasaki,S.
  TITLE     Molecular characterization of human Aquaporin-7 gene and its
            chromosomal mapping
  JOURNAL   Biochim Biophys Acta 1399 (1), 62-66 (1998)
   PUBMED   9714739
REFERENCE   7  (bases 1 to 3064)
  AUTHORS   Ishibashi,K., Kuwahara,M., Gu,Y., Kageyama,Y., Tohsaka,A.,
            Suzuki,F., Marumo,F. and Sasaki,S.
  TITLE     Cloning and functional expression of a new water channel abundantly
            expressed in the testis permeable to water, glycerol, and urea
  JOURNAL   J Biol Chem 272 (33), 20782-20786 (1997)
   PUBMED   9252401
REFERENCE   8  (bases 1 to 3064)
  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 3064)
  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 3064)
  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 DC306826.1, AB006190.1,
            DQ786216.1 and AL356218.22.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001170.2.
            
            Summary: This gene encodes a member of the aquaporin family of
            water-selective membrane channels. The encoded protein localizes to
            the plasma membrane and allows movement of water, glycerol and urea
            across cell membranes. This gene is highly expressed in the adipose
            tissue where the encoded protein facilitates efflux of glycerol. In
            the proximal straight tubules of kidney, the encoded protein is
            localized to the apical membrane and prevents excretion of glycerol
            into urine. The encoded protein is present in spermatids, as well
            as in the testicular and epididymal spermatozoa suggesting an
            important role in late spermatogenesis. Alternative splicing of
            this gene results in multiple transcript variants encoding
            different isoforms. This gene is located adjacent to a related
            aquaporin gene on chromosome 9. Multiple pseudogenes of this gene
            have been identified. [provided by RefSeq, Dec 2015].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1). Variants 1 and 8 encode the same isoform.
            
            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 :: SRR5189655.19154.1,
                                           SRR5189655.46040.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000297988.6/ ENSP00000297988.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-49                DC306826.1         115-163
            50-1304             AB006190.1         1-1255
            1305-1305           DQ786216.1         631-631
            1306-3064           AL356218.22        28844-30602         c
FEATURES             Location/Qualifiers
     source          1..3064
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     gene            1..3064
                     /gene="AQP7"
                     /gene_synonym="AQP7L; AQPap; GLYCQTL"
                     /note="aquaporin 7"
                     /db_xref="GeneID:364"
                     /db_xref="HGNC:HGNC:640"
                     /db_xref="MIM:602974"
     exon            1..196
                     /gene="AQP7"
                     /gene_synonym="AQP7L; AQPap; GLYCQTL"
                     /inference="alignment:Splign:2.1.0"
     exon            197..247
                     /gene="AQP7"
                     /gene_synonym="AQP7L; AQPap; GLYCQTL"
                     /inference="alignment:Splign:2.1.0"
     CDS             222..1250
                     /gene="AQP7"
                     /gene_synonym="AQP7L; AQPap; GLYCQTL"
                     /note="isoform 1 is encoded by transcript variant 1;
                     aquaporin adipose; aquaglyceroporin-7"
                     /codon_start=1
                     /product="aquaporin-7 isoform 1"
                     /protein_id="NP_001161.1"
                     /db_xref="CCDS:CCDS6541.1"
                     /db_xref="GeneID:364"
                     /db_xref="HGNC:HGNC:640"
                     /db_xref="MIM:602974"
                     /translation="MVQASGHRRSTRGSKMVSWSVIAKIQEILQRKMVREFLAEFMST
                     YVMMVFGLGSVAHMVLNKKYGSYLGVNLGFGFGVTMGVHVAGRISGAHMNAAVTFANC
                     ALGRVPWRKFPVYVLGQFLGSFLAAATIYSLFYTAILHFSGGQLMVTGPVATAGIFAT
                     YLPDHMTLWRGFLNEAWLTGMLQLCLFAITDQENNPALPGTEALVIGILVVIIGVSLG
                     MNTGYAINPSRDLPPRIFTFIAGWGKQVFSNGENWWWVPVVAPLLGAYLGGIIYLVFI
                     GSTIPREPLKLEDSVAYEDHGITVLPKMGSHEPTISPLTPVSVSPANRSSVHPAPPLH
                     ESMALEHF"
     exon            248..365
                     /gene="AQP7"
                     /gene_synonym="AQP7L; AQPap; GLYCQTL"
                     /inference="alignment:Splign:2.1.0"
     exon            366..489
                     /gene="AQP7"
                     /gene_synonym="AQP7L; AQPap; GLYCQTL"
                     /inference="alignment:Splign:2.1.0"
     exon            490..627
                     /gene="AQP7"
                     /gene_synonym="AQP7L; AQPap; GLYCQTL"
                     /inference="alignment:Splign:2.1.0"
     exon            628..746
                     /gene="AQP7"
                     /gene_synonym="AQP7L; AQPap; GLYCQTL"
                     /inference="alignment:Splign:2.1.0"
     exon            747..964
                     /gene="AQP7"
                     /gene_synonym="AQP7L; AQPap; GLYCQTL"
                     /inference="alignment:Splign:2.1.0"
     exon            965..3064
                     /gene="AQP7"
                     /gene_synonym="AQP7L; AQPap; GLYCQTL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1283..1288
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AQP7"
                     /gene_synonym="AQP7L; AQPap; GLYCQTL"
                     /note="hexamer: AATAAA"
     polyA_site      1305
                     /gene="AQP7"
                     /gene_synonym="AQP7L; AQPap; GLYCQTL"
                     /note="major polyA site"
     regulatory      3040..3045
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AQP7"
                     /gene_synonym="AQP7L; AQPap; GLYCQTL"
                     /note="hexamer: ATTAAA"
     polyA_site      3064
                     /gene="AQP7"
                     /gene_synonym="AQP7L; AQPap; GLYCQTL"
ORIGIN      
        1 ggaggagcag gagcagcgct cgaggccgcc ctgggagagc tgagaggcag gctctggact
       61 ggggacacag ggatagctga gccccagctg ggggtggaag ctgagccagg gacagtcacg
      121 gaggaacaag atcaagatgc gctgtaactg agaagccccc aaggcggagg ctgagaatca
      181 gagacatttc agcagacatc tacaaatctg aaagacaaaa catggttcaa gcatccgggc
      241 acaggcggtc cacccgtggc tccaaaatgg tctcctggtc cgtgatagca aagatccagg
      301 aaatactgca gaggaagatg gtgcgagagt tcctggccga gttcatgagc acatatgtca
      361 tgatggtatt cggccttggt tccgtggccc atatggttct aaataaaaaa tatgggagct
      421 accttggtgt caacttgggt tttggcttcg gagtcaccat gggagtgcac gtggcaggcc
      481 gcatctctgg agcccacatg aacgcagctg tgacctttgc taactgtgcg ctgggccgcg
      541 tgccctggag gaagtttccg gtctatgtgc tggggcagtt cctgggctcc ttcctggcgg
      601 ctgccaccat ctacagtctc ttctacacgg ccattctcca cttttcgggt ggacagctga
      661 tggtgaccgg tcccgtcgct acagctggca tttttgccac ctaccttcct gatcacatga
      721 cattgtggcg gggcttcctg aatgaggcgt ggctgaccgg gatgctccag ctgtgtctct
      781 tcgccatcac ggaccaggag aacaacccag cactgccagg aacagaggcg ctggtgatag
      841 gcatcctcgt ggtcatcatc ggggtgtccc ttggcatgaa cacaggatat gccatcaacc
      901 cgtcccggga cctgcccccc cgcatcttca ccttcattgc tggttggggc aaacaggtct
      961 tcagcaatgg ggagaactgg tggtgggtgc cagtggtggc accacttctg ggtgcctatc
     1021 taggtggcat catctacctg gtcttcattg gctccaccat cccacgggag cccctgaaat
     1081 tggaggattc tgtggcgtat gaagaccacg ggataaccgt attgcccaag atgggatctc
     1141 atgaacccac gatctctccc ctcacccccg tctctgtgag ccctgccaac agatcttcag
     1201 tccaccctgc cccaccctta catgaatcca tggccctaga gcacttctaa gcagagatta
     1261 tttgtgatcc catccattcc ccaataaagc aaggcttgtc cgacagcagt acccccactt
     1321 cctgggggcc tcctgtggtt gggcttccct cctgggttct tacaggagct ccagggctat
     1381 gtcttagccc aaggtgtaga ggtgaggcac ctcaagtctt tcatgccctg ggaactgggg
     1441 tgccccaggg ggagaatggg gaagagatga cctgcgccct cagtaggaac agggtgagat
     1501 gaaagaacga cagaatgagg gattttcagg cacgggggaa ggaagggtgg ttttggggaa
     1561 cagaccgtag ctgactggtt gggggccggc tttggaaata ctttgagggg atcctgagat
     1621 tggactctag actctcccct ggttcttccc ttccctgagt tctggccggt tcttggacca
     1681 gacaaggcaa ggcccaagaa tgtagatcag aattttttag cctttttttc attagttcct
     1741 tccctagtat tcttctagat tttttttttc ttaatcacat gaaattttaa taccacagat
     1801 gtactatata tctgtttatg ttctgtatat gttctgtgct ttatacataa aaaagagtaa
     1861 gatttttttt tcacctcccc ttttaagaat cagttttaat tcccttgaga atgcttgtta
     1921 tagattgaag gctgttaagg ggttgggctc ctctttcttc ttcctggtgc cagagtgctc
     1981 ccacatgaag gaataggaaa ggaagatgca aagagggaaa tccttcgacc acatgaagac
     2041 acaggaagag gcctcatagg gctccaaggg ctccagggaa gcaggtgcag aggttgggtg
     2101 gggtgagggg ccaggatcca ctgaccctgg ggccaggcag gaatcactct gttgcctggg
     2161 gctcagaagg cagcatcacc catggttcct gtccttgctc atgcattttg cctttcaata
     2221 attattgtgc atctactgtg tgcaggccct gcctggacac tggggatgcg cagtggatgc
     2281 gctgggctct gcctttgagg gttgcagttt aatgggggac aggtaattat atggaagaag
     2341 gtgagtgcag agtgggaggc ttggaggctg tggggctcgg ggtaggggag ctcacatcca
     2401 gcctctgggc caaggccagg aggcttccca gaggaggaga cagagcaggg tatggtggtg
     2461 gggggtgtcc tttttggggg tgggagctgc actttacagt ttgaggggat gggcagagga
     2521 ggctgggctt cgttctggag gtggggacac ggtgaggtga ggtttagaaa gcacacctga
     2581 gccgcagtgt gtaggatgct ggaaatggtg gagatgggcc tgcgaaagtg atgacccagg
     2641 agcagcagcc gggcacctaa caatgggtca gcaccgtggg cgtggagacg agagcgggga
     2701 ttgatcaata ccggagaagt acaatgtaca ggacttgggt tccatttgga tggagtgggt
     2761 gagggagagg gaggagtcag aaatggcttc cggtttccag cttgggcctg gggattggag
     2821 atgtccccac tgagagtagg gcacaagtga ggaaatggtt tggagaggaa gataagttac
     2881 atcatggaca tgctgagtct gagttgccta tgggacttgg aatggggggt ggcaaaatgt
     2941 gtgtgatctt gagcaagata ttcaaccctt ctgggccttg gtcttcttat ttgtaaaatg
     3001 gcgataagaa tattacttcc catttgtgtt gctgtgaata ttaaatgcgc taccacatgt
     3061 aaaa
//
