LOCUS       NM_020041               1864 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens solute carrier family 2 member 9 (SLC2A9), transcript
            variant 1, mRNA.
ACCESSION   NM_020041
VERSION     NM_020041.3
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 1864)
  AUTHORS   Quinlivan,R., Murphy,E., Pula,S., Pain,A., Brain,H., Scopes,G.,
            Gjika,F., Ahmadouk,N., Manole,A. and Houlden,H.
  TITLE     Raised CK and acute kidney injury following intense exercise in
            three patients with a history of exercise intolerance due to
            homozygous mutations in SLC2A9
  JOURNAL   Neuromuscul Disord 34, 49-53 (2024)
   PUBMED   38150892
  REMARK    GeneRIF: Raised CK and acute kidney injury following intense
            exercise in three patients with a history of exercise intolerance
            due to homozygous mutations in SLC2A9.
REFERENCE   2  (bases 1 to 1864)
  AUTHORS   Ueda,M., Fukui,K., Kamatani,N., Kamitsuji,S., Matsuo,A., Sasase,T.,
            Nishiu,J. and Matsushita,M.
  TITLE     GLUT9 as a potential drug target for chronic kidney disease: Drug
            target validation by a Mendelian randomization study
  JOURNAL   J Hum Genet 68 (10), 699-704 (2023)
   PUBMED   37308567
  REMARK    GeneRIF: GLUT9 as a potential drug target for chronic kidney
            disease: Drug target validation by a Mendelian randomization study.
REFERENCE   3  (bases 1 to 1864)
  AUTHORS   Perdomo-Ramirez,A., Cordoba-Lanus,E., Trujillo-Frias,C.J.,
            Gonzalez-Navasa,C., Ramos-Trujillo,E., Luis-Yanes,M.I.,
            Garcia-Nieto,V. and Claverie-Martin,F.
  CONSRTM   RenalTube
  TITLE     Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in
            Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9
            Variant c.374C>T; p.(T125M)
  JOURNAL   Int J Mol Sci 24 (9), 8455 (2023)
   PUBMED   37176161
  REMARK    GeneRIF: Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9)
            in Spanish Patients with Renal Hypouricemia: Founder Effect of
            SLC2A9 Variant c.374C>T; p.(T125M).
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1864)
  AUTHORS   Toyoda,Y., Miyata,H., Uchida,N., Morimoto,K., Shigesawa,R.,
            Kassai,H., Nakao,K., Tomioka,N.H., Matsuo,H., Ichida,K.,
            Hosoyamada,M., Aiba,A., Suzuki,H. and Takada,T.
  TITLE     Vitamin C transporter SVCT1 serves a physiological role as a urate
            importer: functional analyses and in vivo investigations
  JOURNAL   Pflugers Arch 475 (4), 489-504 (2023)
   PUBMED   36749388
REFERENCE   5  (bases 1 to 1864)
  AUTHORS   Cachau,R., Shahsavari,S. and Cho,S.K.
  TITLE     The in-silico evaluation of important GLUT9 residue for uric acid
            transport based on renal hypouricemia type 2
  JOURNAL   Chem Biol Interact 373, 110378 (2023)
   PUBMED   36736875
  REMARK    GeneRIF: The in-silico evaluation of important GLUT9 residue for
            uric acid transport based on renal hypouricemia type 2.
REFERENCE   6  (bases 1 to 1864)
  AUTHORS   Richardson,S., Neama,G., Phillips,T., Bell,S., Carter,S.D.,
            Moley,K.H., Moley,J.F., Vannucci,S.J. and Mobasheri,A.
  TITLE     Molecular characterization and partial cDNA cloning of facilitative
            glucose transporters expressed in human articular chondrocytes;
            stimulation of 2-deoxyglucose uptake by IGF-I and elevated MMP-2
            secretion by glucose deprivation
  JOURNAL   Osteoarthritis Cartilage 11 (2), 92-101 (2003)
   PUBMED   12554125
REFERENCE   7  (bases 1 to 1864)
  AUTHORS   Mobasheri,A., Neama,G., Bell,S., Richardson,S. and Carter,S.D.
  TITLE     Human articular chondrocytes express three facilitative glucose
            transporter isoforms: GLUT1, GLUT3 and GLUT9
  JOURNAL   Cell Biol Int 26 (3), 297-300 (2002)
   PUBMED   11991658
  REMARK    GeneRIF: GLUT9 is expressed by normal articular chondrocytes.
REFERENCE   8  (bases 1 to 1864)
  AUTHORS   Shikhman,A.R., Brinson,D.C., Valbracht,J. and Lotz,M.K.
  TITLE     Cytokine regulation of facilitated glucose transport in human
            articular chondrocytes
  JOURNAL   J Immunol 167 (12), 7001-7008 (2001)
   PUBMED   11739520
REFERENCE   9  (bases 1 to 1864)
  AUTHORS   Doege,H., Bocianski,A., Joost,H.G. and Schurmann,A.
  TITLE     Activity and genomic organization of human glucose transporter 9
            (GLUT9), a novel member of the family of sugar-transport
            facilitators predominantly expressed in brain and leucocytes
  JOURNAL   Biochem J 350 Pt 3 (Pt 3), 771-776 (2000)
   PUBMED   10970791
  REMARK    Erratum:[Biochem J 2001 Sep 15;358(Pt 3):791-2]
REFERENCE   10 (bases 1 to 1864)
  AUTHORS   Phay,J.E., Hussain,H.B. and Moley,J.F.
  TITLE     Cloning and expression analysis of a novel member of the
            facilitative glucose transporter family, SLC2A9 (GLUT9)
  JOURNAL   Genomics 66 (2), 217-220 (2000)
   PUBMED   10860667
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005674.11, BI821650.1,
            CD629819.1, CD629822.1, BC018897.2 and AL572022.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_020041.2.
            
            Summary: This gene encodes a member of the SLC2A facilitative
            glucose transporter family. Members of this family play a
            significant role in maintaining glucose homeostasis. The encoded
            protein may play a role in the development and survival of
            chondrocytes in cartilage matrices. Two transcript variants
            encoding distinct isoforms have been identified for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the shorter
            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 :: BC110414.1, SRR1803615.94999.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264784.8/ ENSP00000264784.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 AC005674.11        135661-135667       c
            8-156               BI821650.1         5-153
            157-603             CD629819.1         155-601
            604-749             CD629822.1         120-265             c
            750-1116            BC018897.2         754-1120
            1117-1439           AL572022.3         368-690             c
            1440-1864           BC018897.2         1444-1868
FEATURES             Location/Qualifiers
     source          1..1864
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.1"
     gene            1..1864
                     /gene="SLC2A9"
                     /gene_synonym="GLUT9; GLUTX; UAQTL2; URATv1"
                     /note="solute carrier family 2 member 9"
                     /db_xref="GeneID:56606"
                     /db_xref="HGNC:HGNC:13446"
                     /db_xref="MIM:606142"
     exon            1..218
                     /gene="SLC2A9"
                     /gene_synonym="GLUT9; GLUTX; UAQTL2; URATv1"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..1691
                     /gene="SLC2A9"
                     /gene_synonym="GLUT9; GLUTX; UAQTL2; URATv1"
                     /note="isoform 1 is encoded by transcript variant 1; urate
                     voltage-driven efflux transporter 1; human glucose
                     transporter-like protein-9; GLUT-9; glucose transporter
                     type 9; solute carrier family 2 (facilitated glucose
                     transporter), member 9; urate transporter"
                     /codon_start=1
                     /product="solute carrier family 2, facilitated glucose
                     transporter member 9 isoform 1"
                     /protein_id="NP_064425.2"
                     /db_xref="CCDS:CCDS3407.1"
                     /db_xref="GeneID:56606"
                     /db_xref="HGNC:HGNC:13446"
                     /db_xref="MIM:606142"
                     /translation="MARKQNRNSKELGLVPLTDDTSHAGPPGPGRALLECDHLRSGVP
                     GGRRRKDWSCSLLVASLAGAFGSSFLYGYNLSVVNAPTPYIKAFYNESWERRHGRPID
                     PDTLTLLWSVTVSIFAIGGLVGTLIVKMIGKVLGRKHTLLANNGFAISAALLMACSLQ
                     AGAFEMLIVGRFIMGIDGGVALSVLPMYLSEISPKEIRGSLGQVTAIFICIGVFTGQL
                     LGLPELLGKESTWPYLFGVIVVPAVVQLLSLPFLPDSPRYLLLEKHNEARAVKAFQTF
                     LGKADVSQEVEEVLAESRVQRSIRLVSVLELLRAPYVRWQVVTVIVTMACYQLCGLNA
                     IWFYTNSIFGKAGIPPAKIPYVTLSTGGIETLAAVFSGLVIEHLGRRPLLIGGFGLMG
                     LFFGTLTITLTLQDHAPWVPYLSIVGILAIIASFCSGPGGIPFILTGEFFQQSQRPAA
                     FIIAGTVNWLSNFAVGLLFPFIQKSLDTYCFLVFATICITGAIYLYFVLPETKNRTYA
                     EISQAFSKRNKAYPPEEKIDSAVTDGKINGRP"
     exon            219..317
                     /gene="SLC2A9"
                     /gene_synonym="GLUT9; GLUTX; UAQTL2; URATv1"
                     /inference="alignment:Splign:2.1.0"
     exon            318..478
                     /gene="SLC2A9"
                     /gene_synonym="GLUT9; GLUTX; UAQTL2; URATv1"
                     /inference="alignment:Splign:2.1.0"
     exon            479..603
                     /gene="SLC2A9"
                     /gene_synonym="GLUT9; GLUTX; UAQTL2; URATv1"
                     /inference="alignment:Splign:2.1.0"
     exon            604..749
                     /gene="SLC2A9"
                     /gene_synonym="GLUT9; GLUTX; UAQTL2; URATv1"
                     /inference="alignment:Splign:2.1.0"
     exon            750..882
                     /gene="SLC2A9"
                     /gene_synonym="GLUT9; GLUTX; UAQTL2; URATv1"
                     /inference="alignment:Splign:2.1.0"
     exon            883..1070
                     /gene="SLC2A9"
                     /gene_synonym="GLUT9; GLUTX; UAQTL2; URATv1"
                     /inference="alignment:Splign:2.1.0"
     exon            1071..1181
                     /gene="SLC2A9"
                     /gene_synonym="GLUT9; GLUTX; UAQTL2; URATv1"
                     /inference="alignment:Splign:2.1.0"
     exon            1182..1283
                     /gene="SLC2A9"
                     /gene_synonym="GLUT9; GLUTX; UAQTL2; URATv1"
                     /inference="alignment:Splign:2.1.0"
     exon            1284..1359
                     /gene="SLC2A9"
                     /gene_synonym="GLUT9; GLUTX; UAQTL2; URATv1"
                     /inference="alignment:Splign:2.1.0"
     exon            1360..1487
                     /gene="SLC2A9"
                     /gene_synonym="GLUT9; GLUTX; UAQTL2; URATv1"
                     /inference="alignment:Splign:2.1.0"
     exon            1488..1864
                     /gene="SLC2A9"
                     /gene_synonym="GLUT9; GLUTX; UAQTL2; URATv1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1844..1849
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC2A9"
                     /gene_synonym="GLUT9; GLUTX; UAQTL2; URATv1"
                     /note="hexamer: AGTAAA"
     polyA_site      1864
                     /gene="SLC2A9"
                     /gene_synonym="GLUT9; GLUTX; UAQTL2; URATv1"
                     /note="major polyA site"
ORIGIN      
        1 actcacggaa atgccttggc agagtctggg gtccctggac tgagccatca gctgggtcac
       61 tgagacccat ggcaaggaaa caaaatagga attccaagga actgggccta gttcccctca
      121 cagatgacac cagccacgcc gggcctccag ggccagggag ggcactgctg gagtgtgacc
      181 acctgaggag tggggtgcca ggtggaagga gaagaaagga ctggtcctgc tcgctcctcg
      241 tggcctccct cgcgggcgcc ttcggctcct ccttcctcta cggctacaac ctgtcggtgg
      301 tgaatgcccc caccccgtac atcaaggcct tttacaatga gtcatgggaa agaaggcatg
      361 gacgtccaat agacccagac actctgactt tgctctggtc tgtgactgtg tccatattcg
      421 ccatcggtgg acttgtgggg acgttaattg tgaagatgat tggaaaggtt cttgggagga
      481 agcacacttt gctggccaat aatgggtttg caatttctgc tgcattgctg atggcctgct
      541 cgctccaggc aggagccttt gaaatgctca tcgtgggacg cttcatcatg ggcatagatg
      601 gaggcgtcgc cctcagtgtg ctccccatgt accttagtga gatctcaccc aaggagatcc
      661 gtggctctct ggggcaggtg actgccatct ttatctgcat tggcgtgttc actgggcagc
      721 ttctgggcct gcccgagctg ctgggaaagg agagtacctg gccatacctg tttggagtga
      781 ttgtggtccc tgccgttgtc cagctgctga gccttccctt tctcccggac agcccacgct
      841 acctgctctt ggagaagcac aacgaggcaa gagctgtgaa agccttccaa acgttcttgg
      901 gtaaagcaga cgtttcccaa gaggtagagg aggtcctggc tgagagccgc gtgcagagga
      961 gcatccgcct ggtgtccgtg ctggagctgc tgagagctcc ctacgtccgc tggcaggtgg
     1021 tcaccgtgat tgtcaccatg gcctgctacc agctctgtgg cctcaatgca atttggttct
     1081 ataccaacag catctttgga aaagctggga tccctccggc aaagatccca tacgtcacct
     1141 tgagtacagg gggcatcgag actttggctg ccgtcttctc tggtttggtc attgagcacc
     1201 tgggacggag acccctcctc attggtggct ttgggctcat gggcctcttc tttgggaccc
     1261 tcaccatcac gctgaccctg caggaccacg ccccctgggt cccctacctg agtatcgtgg
     1321 gcattctggc catcatcgcc tctttctgca gtgggccagg tggcatcccg ttcatcttga
     1381 ctggtgagtt cttccagcaa tctcagcggc cggctgcctt catcattgca ggcaccgtca
     1441 actggctctc caactttgct gttgggctcc tcttcccatt cattcagaaa agtctggaca
     1501 cctactgttt cctagtcttt gctacaattt gtatcacagg tgctatctac ctgtattttg
     1561 tgctgcctga gaccaaaaac agaacctatg cagaaatcag ccaggcattt tccaaaagga
     1621 acaaagcata cccaccagaa gagaaaatcg actcagctgt cactgatggt aagataaatg
     1681 gaaggcctta acaagtttcc tcctccacgt tggacaatta tgtcaaaaac aggattgtct
     1741 acatggatga tctcactttt caggaaactt aaaatttacc cattattggg aagcttaaat
     1801 gaattgaagc tatgcaagtc ttttatatta ttaaatattt aaaagtaaac ctgtactaat
     1861 ctaa
//
