LOCUS       NM_000453               3604 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens solute carrier family 5 member 5 (SLC5A5), mRNA.
ACCESSION   NM_000453
VERSION     NM_000453.3
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 3604)
  AUTHORS   Mutevelizade,G., Kocer,N.E. and Reyhan,M.
  TITLE     The effect of sodium iodide symporter protein on ablation success
            in patients with differentiated thyroid cancer
  JOURNAL   Ann Nucl Med 36 (12), 1050-1058 (2022)
   PUBMED   36214955
  REMARK    GeneRIF: The effect of sodium iodide symporter protein on ablation
            success in patients with differentiated thyroid cancer.
REFERENCE   2  (bases 1 to 3604)
  AUTHORS   Hoang,T., Lee,E.K., Lee,J., Hwangbo,Y. and Kim,J.
  TITLE     Seaweed and Iodine Intakes and SLC5A5 rs77277498 in Relation to
            Thyroid Cancer
  JOURNAL   Endocrinol Metab (Seoul) 37 (3), 513-523 (2022)
   PUBMED   35607818
  REMARK    GeneRIF: Seaweed and Iodine Intakes and SLC5A5 rs77277498 in
            Relation to Thyroid Cancer.
REFERENCE   3  (bases 1 to 3604)
  AUTHORS   Geysels,R.C., Bernal Barquero,C.E., Martin,M., Peyret,V.,
            Nocent,M., Sobrero,G., Munoz,L., Signorino,M., Testa,G.,
            Castro,R.B., Masini-Repiso,A.M., Miras,M.B. and Nicola,J.P.
  TITLE     Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading
            to Dyshormonogenic Congenital Hypothyroidism
  JOURNAL   Front Endocrinol (Lausanne) 13, 868891 (2022)
   PUBMED   35600585
  REMARK    GeneRIF: Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant
            Leading to Dyshormonogenic Congenital Hypothyroidism.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3604)
  AUTHORS   Durgia,H., Nicholas,A.K., Schoenmakers,E., Dickens,J.A.,
            Halanaik,D., Sahoo,J., Kamalanathan,S. and Schoenmakers,N.
  TITLE     Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F,
            Causing Congenital Hypothyroidism
  JOURNAL   Thyroid 32 (2), 215-218 (2022)
   PUBMED   34806438
  REMARK    GeneRIF: Brief Report: A Novel Sodium/Iodide Symporter Mutation,
            S356F, Causing Congenital Hypothyroidism.
REFERENCE   5  (bases 1 to 3604)
  AUTHORS   Yan,Z., Yangyanqiu,W., Shuwen,H., Jing,M., Haihong,L., Gong,C.,
            Yin,J., Qing,Z. and Weili,G.
  TITLE     Downregulation of Rap1GAP Expression Activates the TGF-beta/Smad3
            Pathway to Inhibit the Expression of Sodium/Iodine Transporter in
            Papillary Thyroid Carcinoma Cells
  JOURNAL   Biomed Res Int 2021, 6840642 (2021)
   PUBMED   34840979
  REMARK    GeneRIF: Downregulation of Rap1GAP Expression Activates the
            TGF-beta/Smad3 Pathway to Inhibit the Expression of Sodium/Iodine
            Transporter in Papillary Thyroid Carcinoma Cells.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3604)
  AUTHORS   Smanik,P.A., Liu,Q., Furminger,T.L., Ryu,K., Xing,S.,
            Mazzaferri,E.L. and Jhiang,S.M.
  TITLE     Cloning of the human sodium lodide symporter
  JOURNAL   Biochem Biophys Res Commun 226 (2), 339-345 (1996)
   PUBMED   8806637
REFERENCE   7  (bases 1 to 3604)
  AUTHORS   Fukushima,K., Kaneko,C.R. and Fuchs,A.F.
  TITLE     The neuronal substrate of integration in the oculomotor system
  JOURNAL   Prog Neurobiol 39 (6), 609-639 (1992)
   PUBMED   1410443
  REMARK    Review article
REFERENCE   8  (bases 1 to 3604)
  AUTHORS   Libert,F., Passage,E., Lefort,A., Vassart,G. and Mattei,M.G.
  TITLE     Localization of human thyrotropin receptor gene to chromosome
            region 14q3 by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 54 (1-2), 82-83 (1990)
   PUBMED   2249482
REFERENCE   9  (bases 1 to 3604)
  AUTHORS   Albero,R., Cerdan,A. and Sanchez Franco,F.
  TITLE     Congenital hypothyroidism from complete iodide transport defect:
            long-term evolution with iodide treatment
  JOURNAL   Postgrad Med J 63 (746), 1043-1047 (1987)
   PUBMED   3451231
REFERENCE   10 (bases 1 to 3604)
  AUTHORS   Couch,R.M., Dean,H.J. and Winter,J.S.
  TITLE     Congenital hypothyroidism caused by defective iodide transport
  JOURNAL   J Pediatr 106 (6), 950-953 (1985)
   PUBMED   3998954
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005796.1, U66088.1 and
            AF260700.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000453.2.
            
            Summary: This gene encodes a member of the sodium glucose
            cotransporter family. The encoded protein is responsible for the
            uptake of iodine in tissues such as the thyroid and lactating
            breast tissue. The iodine taken up by the thyroid is incorporated
            into the metabolic regulators triiodothyronine (T3) and
            tetraiodothyronine (T4). Mutations in this gene are associated with
            thyroid dyshormonogenesis 1.[provided by RefSeq, Sep 2009].
            
            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 :: U66088.1, D87920.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000222248.4/ ENSP00000222248.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-28                AC005796.1         13889-13916
            29-2518             U66088.1           1-2490
            2519-3103           AC005796.1         36033-36617
            3104-3604           AF260700.1         1148-1648
FEATURES             Location/Qualifiers
     source          1..3604
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..3604
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="solute carrier family 5 member 5"
                     /db_xref="GeneID:6528"
                     /db_xref="HGNC:HGNC:11040"
                     /db_xref="MIM:601843"
     exon            1..732
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             376..2307
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="Na(+)/I(-) cotransporter; Na(+)/I(-) symporter;
                     solute carrier family 5 (sodium iodide symporter), member
                     5; solute carrier family 5 (sodium/iodide cotransporter),
                     member 5; natrium iodide transporter"
                     /codon_start=1
                     /product="sodium/iodide cotransporter"
                     /protein_id="NP_000444.1"
                     /db_xref="CCDS:CCDS12368.1"
                     /db_xref="GeneID:6528"
                     /db_xref="HGNC:HGNC:11040"
                     /db_xref="MIM:601843"
                     /translation="MEAVETGERPTFGAWDYGVFALMLLVSTGIGLWVGLARGGQRSA
                     EDFFTGGRRLAALPVGLSLSASFMSAVQVLGVPSEAYRYGLKFLWMCLGQLLNSVLTA
                     LLFMPVFYRLGLTSTYEYLEMRFSRAVRLCGTLQYIVATMLYTGIVIYAPALILNQVT
                     GLDIWASLLSTGIICTFYTAVGGMKAVVWTDVFQVVVMLSGFWVVLARGVMLVGGPRQ
                     VLTLAQNHSRINLMDFNPDPRSRYTFWTFVVGGTLVWLSMYGVNQAQVQRYVACRTEK
                     QAKLALLINQVGLFLIVSSAACCGIVMFVFYTDCDPLLLGRISAPDQYMPLLVLDIFE
                     DLPGVPGLFLACAYSGTLSTASTSINAMAAVTVEDLIKPRLRSLAPRKLVIISKGLSL
                     IYGSACLTVAALSSLLGGGVLQGSFTVMGVISGPLLGAFILGMFLPACNTPGVLAGLG
                     AGLALSLWVALGATLYPPSEQTMRVLPSSAARCVALSVNASGLLDPALLPANDSSRAP
                     SSGMDASRPALADSFYAISYLYYGALGTLTTVLCGALISCLTGPTKRSTLAPGLLWWD
                     LARQTASVAPKEEVAILDDNLVKGPEELPTGNKKPPGFLPTNEDRLFFLGQKELEGAG
                     SWTPCVGHDGGRDQQETNL"
     exon            733..798
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            799..850
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            851..918
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            919..1073
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1074..1214
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1215..1344
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1345..1433
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1434..1546
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1547..1617
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1618..1704
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1705..1901
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1902..2026
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            2027..2142
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            2143..3604
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3580..3585
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="hexamer: AATAAA"
     polyA_site      3604
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="major polyA site"
ORIGIN      
        1 gctcccgtaa gccccaaggc gacctccagc tgtcagcgct gagcacagcg cccagggaga
       61 gggacagaca gccggctgca tgggacagcg gaacccagag tgagagggga ggtggcagga
      121 cagacagaca gcaggggcgg acgcagagac agacagcggg gacagggagg ccgacacgga
      181 catcgacagc ccatagattc ctaacccagg gagccccggc ccctctcgcc gcttcccacc
      241 ccagacggag cggggacagg ctgccgagca tcctcccacc cgccctcccc gtcctgcctc
      301 ctcggcccct gccagcttcc cccgcttgag cacgcagggc gtccgaggac gcgctgggcc
      361 tccgcacccg ccctcatgga ggccgtggag accggggaac ggcccacctt cggagcctgg
      421 gactacgggg tctttgccct catgctcctg gtgtccactg gcatcgggct gtgggtcggg
      481 ctggctcggg gcgggcagcg cagcgctgag gacttcttca ccgggggccg gcgcctggcg
      541 gccctgcccg tgggcctgtc gctgtctgcc agcttcatgt cggccgtgca ggtgctgggc
      601 gtgccgtcgg aggcctatcg ctatggcctc aagttcctct ggatgtgcct gggccagctt
      661 ctgaactcgg tcctcaccgc cctgctcttc atgcccgtct tctaccgcct gggcctcacc
      721 agcacctacg agtacctgga gatgcgcttc agccgcgcag tgcggctctg cgggactttg
      781 cagtacattg tagccacgat gctgtacacc ggcatcgtaa tctacgcacc ggccctcatc
      841 ctgaaccaag tgaccgggct ggacatctgg gcgtcgctcc tgtccaccgg aattatctgc
      901 accttctaca cggctgtggg cggcatgaag gctgtggtct ggactgatgt gttccaggtc
      961 gtggtgatgc taagtggctt ctgggttgtc ctggcacgcg gtgtcatgct tgtgggcggg
     1021 ccccgccagg tgctcacgct ggcccagaac cactcccgga tcaacctcat ggactttaac
     1081 cctgacccga ggagccgcta tacattctgg acttttgtgg tgggtggcac gttggtgtgg
     1141 ctctccatgt atggcgtgaa ccaggcgcag gtgcagcgct acgtggcttg ccgcacagag
     1201 aagcaggcca agctggccct gctcatcaac caggtcggcc tgttcctgat cgtgtccagc
     1261 gctgcctgct gtggcatcgt catgtttgtg ttctacactg actgcgaccc tctcctcctg
     1321 gggcgcatct ctgccccaga ccagtacatg cctctgctgg tgctggacat cttcgaagat
     1381 ctgcctggag tccccgggct tttcctggcc tgtgcttaca gtggcaccct cagcacagca
     1441 tccaccagca tcaatgctat ggctgcagtc actgtagaag acctcatcaa acctcggctg
     1501 cggagcctgg cacccaggaa actcgtgatt atctccaagg ggctctcact catctacgga
     1561 tcggcctgtc tcaccgtggc agccctgtcc tcactgctcg gaggaggtgt ccttcagggc
     1621 tccttcaccg tcatgggagt catcagcggc cccctgctgg gagccttcat cttgggaatg
     1681 ttcctgccgg cctgcaacac accgggcgtc ctcgcgggac taggcgcggg cttggcgctg
     1741 tcgctgtggg tggccttggg cgccacgctg tacccaccca gcgagcagac catgagggtc
     1801 ctgccatcgt cggctgcccg ctgcgtggct ctctcagtca acgcctctgg cctcctggac
     1861 ccggctctcc tccctgctaa cgactccagc agggccccca gctcaggaat ggacgccagc
     1921 cgacccgcct tagctgacag cttctatgcc atctcctatc tctattacgg tgccctgggc
     1981 acgctgacca ctgtgctgtg cggagccctc atcagctgcc tgacaggccc caccaagcgc
     2041 agcaccctgg ccccgggatt gttgtggtgg gacctcgcac ggcagacagc atcagtggcc
     2101 cccaaggaag aagtggccat cctggatgac aacttggtca agggtcctga agaactcccc
     2161 actggaaaca agaagccccc tggcttcctg cccaccaatg aggatcgtct gtttttcttg
     2221 gggcagaagg agctggaggg ggctggctct tggaccccct gtgttggaca tgatggtggt
     2281 cgagaccagc aggagacaaa cctctgagga cagggccagc cgcgggactg acaccctggg
     2341 atggaacctc aggatgggcc aaacccagac aacgggccca tggccttggg ctctgattgg
     2401 ctggattgcc ttgtatgcaa atgagttcag gactacaata ccctacccta tggggaggcc
     2461 ctgcctccgg gaggtcattt tttaaatcca gccccttgct tcaaccgtcc ccagtattag
     2521 acgctgcagc cctgacggct ccccccaaat aaggctgggt ttttctctct ctcttttttt
     2581 tttttttttt tttttgagac agggtcatgc tctgtcaccc aggctggagt gcagtggtgt
     2641 gatctcggct cactgcaacc tctgcctccc aggctcaagt gattctcctg cctcagcctc
     2701 ttgagtagct gggattgtag gtgcccacca ccatgcccag ccaacttttt gtatttttag
     2761 tagagacagg gtttcaccat gttggtcagg ctggtctcga actcctgacc tcaagtgatc
     2821 cacctgcctc ggcctcccaa agtgctgggt tacaggcgta agctaccatg cccagcctac
     2881 cgtttttctc aatctataat agaaagccac cacgcccagg taatttttgt aattttgtat
     2941 ttttgtagag acggggtttt gccatgttgg ccaggctggt ctcaaactcc tgatctcagg
     3001 tgatcctcct gccttggcct cccaaagggc tgggattaca ggggtgagcc accgcgcccc
     3061 acctctttct tattttcttc ctgggattgg ggaggggatg attcagaccc cacatggcct
     3121 ccaaccttgg cccacacacc tgccatggct cccatcatcc tgagcatgct agcgtcccct
     3181 cctcacctga caatggaggc tctcgaattg ggttgtgtcc ccccaaaatt tatgtctacc
     3241 cagaacctca gaacatgagc ttacttggaa atagggtctt tgcaggtgta actggttaaa
     3301 ttaaaagagg tattactgga ggaggatgga tgaatccagt gactggttcc tcatatgaag
     3361 tagagaagag atgcagagaa acacatgggg aagatgccac gtgaagacag aggcagtggt
     3421 tggatcaatg catctacgag tcggagaacc caaggattgc cagcaacaac cagaaatcag
     3481 gaggggggca tgagatgcat tatttcttag agcctttaga gggaacatgg ccctactgac
     3541 accttgatgt cagacttctg gctgctagaa ctgtcagaga ataaatttct gttgtttgat
     3601 gcca
//
