LOCUS       NM_144585               2792 bp    mRNA    linear   PRI 03-SEP-2024
DEFINITION  Homo sapiens solute carrier family 22 member 12 (SLC22A12),
            transcript variant 1, mRNA.
ACCESSION   NM_144585
VERSION     NM_144585.4
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 2792)
  AUTHORS   He,J., Liu,G., Kong,F., Tan,Q., Wang,Z., Yang,M., He,Y., Jia,X.,
            Yan,C., Wang,C. and Qian,H.
  TITLE     Structural basis for the transport and substrate selection of human
            urate transporter 1
  JOURNAL   Cell Rep 43 (8), 114628 (2024)
   PUBMED   39146184
  REMARK    GeneRIF: Structural basis for the transport and substrate selection
            of human urate transporter 1.
REFERENCE   2  (bases 1 to 2792)
  AUTHORS   Perdomo-Ramirez,A., Ramos-Trujillo,E. and Claverie-Martin,F.
  CONSRTM   RenalTube Group
  TITLE     New SLC22A12 (URAT1) Variant Associated with Renal Hypouricemia
            Identified by Whole-Exome Sequencing Analysis and Bioinformatics
            Predictions
  JOURNAL   Genes (Basel) 14 (9), 1823 (2023)
   PUBMED   37761963
  REMARK    GeneRIF: New SLC22A12 (URAT1) Variant Associated with Renal
            Hypouricemia Identified by Whole-Exome Sequencing Analysis and
            Bioinformatics Predictions.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2792)
  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 2792)
  AUTHORS   Wu,L., Fan,Y., Wang,Y., Li,Z., Mao,D. and Zhuang,W.
  TITLE     The impact of an URAT1 polymorphism on the losartan treatment of
            hypertension and hyperuricemia
  JOURNAL   J Clin Lab Anal 35 (10), e23949 (2021)
   PUBMED   34498315
  REMARK    GeneRIF: The impact of an URAT1 polymorphism on the losartan
            treatment of hypertension and hyperuricemia.
REFERENCE   5  (bases 1 to 2792)
  AUTHORS   Vargas-Morales,J.M., Guevara-Cruz,M., Aradillas-Garcia,C., G
            Noriega,L., Tovar,A. and Alegria-Torres,J.A.
  TITLE     Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their
            relation with hyperuricemia and hypercholesterolemia in Mexican
            young adults
  JOURNAL   F1000Res 10, 217 (2021)
   PUBMED   34631016
  REMARK    GeneRIF: Polymorphisms of the genes ABCG2, SLC22A12 and XDH and
            their relation with hyperuricemia and hypercholesterolemia in
            Mexican young adults.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2792)
  AUTHORS   Anzai,N., Miyazaki,H., Noshiro,R., Khamdang,S., Chairoungdua,A.,
            Shin,H.J., Enomoto,A., Sakamoto,S., Hirata,T., Tomita,K., Kanai,Y.
            and Endou,H.
  TITLE     The multivalent PDZ domain-containing protein PDZK1 regulates
            transport activity of renal urate-anion exchanger URAT1 via its C
            terminus
  JOURNAL   J Biol Chem 279 (44), 45942-45950 (2004)
   PUBMED   15304510
  REMARK    GeneRIF: PDZK1 plays a role in regulating the functional activity
            of URAT1-mediated urate transport in the apical membrane of renal
            proximal tubules.
REFERENCE   7  (bases 1 to 2792)
  AUTHORS   Iwai,N., Mino,Y., Hosoyamada,M., Tago,N., Kokubo,Y. and Endou,H.
  TITLE     A high prevalence of renal hypouricemia caused by inactive SLC22A12
            in Japanese
  JOURNAL   Kidney Int 66 (3), 935-944 (2004)
   PUBMED   15327384
  REMARK    GeneRIF: SLC22A12 is a major gene for hypouricemia but not
            hyperuricemia in Japanese.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2792)
  AUTHORS   Ichida,K., Hosoyamada,M., Hisatome,I., Enomoto,A., Hikita,M.,
            Endou,H. and Hosoya,T.
  TITLE     Clinical and molecular analysis of patients with renal hypouricemia
            in Japan-influence of URAT1 gene on urinary urate excretion
  JOURNAL   J Am Soc Nephrol 15 (1), 164-173 (2004)
   PUBMED   14694169
REFERENCE   9  (bases 1 to 2792)
  AUTHORS   Gisler,S.M., Pribanic,S., Bacic,D., Forrer,P., Gantenbein,A.,
            Sabourin,L.A., Tsuji,A., Zhao,Z.S., Manser,E., Biber,J. and
            Murer,H.
  TITLE     PDZK1: I. a major scaffolder in brush borders of proximal tubular
            cells
  JOURNAL   Kidney Int 64 (5), 1733-1745 (2003)
   PUBMED   14531806
REFERENCE   10 (bases 1 to 2792)
  AUTHORS   Enomoto,A., Kimura,H., Chairoungdua,A., Shigeta,Y., Jutabha,P.,
            Cha,S.H., Hosoyamada,M., Takeda,M., Sekine,T., Igarashi,T.,
            Matsuo,H., Kikuchi,Y., Oda,T., Ichida,K., Hosoya,T., Shimokata,K.,
            Niwa,T., Kanai,Y. and Endou,H.
  TITLE     Molecular identification of a renal urate anion exchanger that
            regulates blood urate levels
  JOURNAL   Nature 417 (6887), 447-452 (2002)
   PUBMED   12024214
  REMARK    GeneRIF: Molecular identification of a renal urate anion exchanger
            that regulates blood urate levels
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB050269.1, DA631511.1,
            BC053348.1 and AP001092.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_144585.3.
            
            Summary: The protein encoded by this gene is a member of the
            organic anion transporter (OAT) family, and it acts as a urate
            transporter to regulate urate levels in blood. This protein is an
            integral membrane protein primarily found in epithelial cells of
            the proximal tubule of the kidney. An elevated level of serum
            urate, hyperuricemia, is associated with increased incidences of
            gout, and mutations in this gene cause renal hypouricemia type 1.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jan 2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            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 :: BC053348.1, AB050269.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145774
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377574.6/ ENSP00000366797.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-588               AB050269.1         411-998
            589-645             DA631511.1         517-573
            646-762             BC053348.1         599-715
            763-763             AB050269.1         1170-1170
            764-1584            BC053348.1         717-1537
            1585-1585           AP001092.5         42783-42783
            1586-2792           BC053348.1         1539-2745
FEATURES             Location/Qualifiers
     source          1..2792
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..2792
                     /gene="SLC22A12"
                     /gene_synonym="hURAT1; OAT4L; RST; UAT; URAT1"
                     /note="solute carrier family 22 member 12"
                     /db_xref="GeneID:116085"
                     /db_xref="HGNC:HGNC:17989"
                     /db_xref="MIM:607096"
     exon            1..739
                     /gene="SLC22A12"
                     /gene_synonym="hURAT1; OAT4L; RST; UAT; URAT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             338..1999
                     /gene="SLC22A12"
                     /gene_synonym="hURAT1; OAT4L; RST; UAT; URAT1"
                     /note="isoform a is encoded by transcript variant 1;
                     solute carrier family 22 (organic anion/cation
                     transporter), member 12; urate transporter 1; urate anion
                     exchanger 1; renal-specific transporter; organic anion
                     transporter 4-like protein; solute carrier family 22
                     (organic anion/urate transporter), member 12; urate:anion
                     antiporter SLC22A12; urate anion transporter 1"
                     /codon_start=1
                     /product="solute carrier family 22 member 12 isoform a"
                     /protein_id="NP_653186.2"
                     /db_xref="CCDS:CCDS8075.1"
                     /db_xref="GeneID:116085"
                     /db_xref="HGNC:HGNC:17989"
                     /db_xref="MIM:607096"
                     /translation="MAFSELLDLVGGLGRFQVLQTMALMVSIMWLCTQSMLENFSAAV
                     PSHRCWAPLLDNSTAQASILGSLSPEALLAISIPPGPNQRPHQCRRFRQPQWQLLDPN
                     ATATSWSEADTEPCVDGWVYDRSIFTSTIVAKWNLVCDSHALKPMAQSIYLAGILVGA
                     AACGPASDRFGRRLVLTWSYLQMAVMGTAAAFAPAFPVYCLFRFLLAFAVAGVMMNTG
                     TLLMEWTAARARPLVMTLNSLGFSFGHGLTAAVAYGVRDWTLLQLVVSVPFFLCFLYS
                     WWLAESARWLLTTGRLDWGLQELWRVAAINGKGAVQDTLTPEVLLSAMREELSMGQPP
                     ASLGTLLRMPGLRFRTCISTLCWFAFGFTFFGLALDLQALGSNIFLLQMFIGVVDIPA
                     KMGALLLLSHLGRRPTLAASLLLAGLCILANTLVPHEMGALRSALAVLGLGGVGAAFT
                     CITIYSSELFPTVLRMTAVGLGQMAARGGAILGPLVRLLGVHGPWLPLLVYGTVPVLS
                     GLAALLLPETQSLPLPDTIQDVQNQAVKKATHGTLGNSVLKSTQF"
     exon            740..843
                     /gene="SLC22A12"
                     /gene_synonym="hURAT1; OAT4L; RST; UAT; URAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            844..998
                     /gene="SLC22A12"
                     /gene_synonym="hURAT1; OAT4L; RST; UAT; URAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            999..1167
                     /gene="SLC22A12"
                     /gene_synonym="hURAT1; OAT4L; RST; UAT; URAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1168..1291
                     /gene="SLC22A12"
                     /gene_synonym="hURAT1; OAT4L; RST; UAT; URAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1292..1407
                     /gene="SLC22A12"
                     /gene_synonym="hURAT1; OAT4L; RST; UAT; URAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1408..1622
                     /gene="SLC22A12"
                     /gene_synonym="hURAT1; OAT4L; RST; UAT; URAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1623..1731
                     /gene="SLC22A12"
                     /gene_synonym="hURAT1; OAT4L; RST; UAT; URAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1732..1935
                     /gene="SLC22A12"
                     /gene_synonym="hURAT1; OAT4L; RST; UAT; URAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1936..2792
                     /gene="SLC22A12"
                     /gene_synonym="hURAT1; OAT4L; RST; UAT; URAT1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2775..2780
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC22A12"
                     /gene_synonym="hURAT1; OAT4L; RST; UAT; URAT1"
                     /note="hexamer: AATAAA"
     polyA_site      2792
                     /gene="SLC22A12"
                     /gene_synonym="hURAT1; OAT4L; RST; UAT; URAT1"
                     /note="major polyA site"
ORIGIN      
        1 agtctaaaat taaagtcttc agtctccaca ttccctactt tccaaattca gctttcccgg
       61 gaggtctgga gcagctgcct ctctggggag atgctggagg tctcggaatc acctcacgcg
      121 gcctcagggc ccagttggag ccaccccaag tgacaccagc aggcagatga ccagagagcc
      181 tgagcctccg gccccgagtc tgtgaagcct agccgctggg ctggagaagc cactgtgggc
      241 accaccgtgg gggaaacagg cccgttgccc tggcctcttt gccctgggcc agcctttgtg
      301 aagtgggccc ctcttctggg ccccttgagt aggttccatg gcattttctg aactcctgga
      361 cctcgtgggt ggcctgggca ggttccaggt tctccagacg atggctctga tggtctccat
      421 catgtggctg tgtacccaga gcatgctgga gaacttctcg gccgccgtgc ccagccaccg
      481 ctgctgggca cccctcctgg acaacagcac ggctcaggcc agcatcctag ggagcttgag
      541 tcctgaggcc ctcctggcta tttccatccc gccgggcccc aaccagaggc cccaccagtg
      601 ccgccgcttc cgccagccac agtggcagct cttggacccc aatgccacgg ccaccagctg
      661 gagcgaggcc gacacggagc cgtgtgtgga tggctgggtc tatgaccgca gcatcttcac
      721 ctccacaatc gtggccaagt ggaacctcgt gtgtgactct catgctctga agcccatggc
      781 ccagtccatc tacctggctg ggattctggt gggagctgct gcgtgcggcc ctgcctcaga
      841 caggtttggg cgcaggctgg tgctaacctg gagctacctt cagatggctg tgatgggtac
      901 ggcagctgcc ttcgcccctg ccttccccgt gtactgcctg ttccgcttcc tgttggcctt
      961 tgccgtggca ggcgtcatga tgaacacggg cactctcctg atggagtgga cggcggcacg
     1021 ggcccgaccc ttggtgatga ccttgaactc tctgggcttc agcttcggcc atggcctgac
     1081 agctgcagtg gcctacggtg tgcgggactg gacactgctg cagctggtgg tctcggtccc
     1141 cttcttcctc tgctttttgt actcctggtg gctggcagag tcggcacgat ggctcctcac
     1201 cacaggcagg ctggattggg gcctgcagga gctgtggagg gtggctgcca tcaacggaaa
     1261 gggggcagtg caggacaccc tgacccctga ggtcttgctt tcagccatgc gggaggagct
     1321 gagcatgggc cagcctcctg ccagcctggg caccctgctc cgcatgcccg gactgcgctt
     1381 ccggacctgt atctccacgt tgtgctggtt cgcctttggc ttcaccttct tcggcctggc
     1441 cctggacctg caggccctgg gcagcaacat cttcctgctc caaatgttca ttggtgtcgt
     1501 ggacatccca gccaagatgg gcgccctgct gctgctgagc cacctgggcc gccgccccac
     1561 gctggccgca tccctgttgc tggcagggct ctgcattctg gccaacacgc tggtgcccca
     1621 cgaaatgggg gctctgcgct cagccttggc cgtgctgggg ctgggcgggg tgggggctgc
     1681 cttcacctgc atcaccatct acagcagcga gctcttcccc actgtgctca ggatgacggc
     1741 agtgggcttg ggccagatgg cagcccgtgg aggagccatc ctggggcctc tggtccggct
     1801 gctgggtgtc catggcccct ggctgccctt gctggtgtat gggacggtgc cagtgctgag
     1861 tggcctggcc gcactgcttc tgcccgagac ccagagcttg ccgctgcccg acaccatcca
     1921 agatgtgcag aaccaggcag taaagaaggc aacacatggc acgctgggga actctgtcct
     1981 aaaatccaca cagttttagc ctcctgggga acctgcgatg ggacggtcag aggaagagac
     2041 ttcttctgtt ctctggagaa ggcaggagga aagcaaagac ctccatttcc agaggcccag
     2101 aggctgccct ctgaggtccc cactctcccc cagggctgcc cctccaggtg agccctgccc
     2161 ctctcacagt ccaaggggcc cccttcaata ctgaagggga aaaggacagt ttgattggca
     2221 ggaggtgacc cagtgcacca tcaccctgcc ctgccctcgt ggcttcggag agcagagggg
     2281 tcaggcccag gggaacgagc tggccttgcc aaccctctgc ttgactccgc actgccactt
     2341 gtccccccac acccgtccac ctgcccagag ctcagagcta accaccatcc atggtcaaga
     2401 cctctcctag ctccacacaa gcagtagagt ctcagctcca cagctttacc cagaagccct
     2461 gtaagcctgg cccctggccc ctccccatgt ccctccaggc ctcagccacc tgcccgccac
     2521 atcctctgcc tgctgtcccc ttcccaccct catccctgac cgactccact taacccccaa
     2581 acccagcccc ccttccaggg gtccagggcc agcctgagat gcccgtgaaa ctcctaccca
     2641 cagttacagc cacaagcctg cctcctccca ccctgccagc ctatgagttc ccagagggtt
     2701 ggggcagtcc catgacccca tgtcccagct ccccacacag cgctgggcca gagaggcatt
     2761 ggtgcgaggg attgaataaa gaaacaaatg aa
//
