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Q92911

- SC5A5_HUMAN

UniProt

Q92911 - SC5A5_HUMAN

Protein

Sodium/iodide cotransporter

Gene

SLC5A5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 136 (01 Oct 2014)
      Sequence version 1 (01 Feb 1997)
      Previous versions | rss
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    Functioni

    Mediates iodide uptake in the thyroid gland.

    GO - Molecular functioni

    1. iodide transmembrane transporter activity Source: UniProtKB
    2. sodium:iodide symporter activity Source: Ensembl

    GO - Biological processi

    1. cellular nitrogen compound metabolic process Source: Reactome
    2. cellular response to cAMP Source: UniProtKB
    3. cellular response to gonadotropin stimulus Source: UniProtKB
    4. iodide transport Source: UniProtKB
    5. ion transport Source: Reactome
    6. small molecule metabolic process Source: Reactome
    7. thyroid hormone generation Source: Reactome
    8. transmembrane transport Source: Reactome
    9. transport Source: ProtInc

    Keywords - Biological processi

    Ion transport, Sodium transport, Symport, Transport

    Keywords - Ligandi

    Sodium

    Enzyme and pathway databases

    ReactomeiREACT_15292. Thyroxine biosynthesis.
    REACT_19372. Organic anion transporters.

    Protein family/group databases

    TCDBi2.A.21.5.1. the solute:sodium symporter (sss) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sodium/iodide cotransporter
    Short name:
    Na(+)/I(-) cotransporter
    Alternative name(s):
    Sodium-iodide symporter
    Short name:
    Na(+)/I(-) symporter
    Solute carrier family 5 member 5
    Gene namesi
    Name:SLC5A5
    Synonyms:NIS
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:11040. SLC5A5.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. integral component of membrane Source: ProtInc
    3. nucleus Source: UniProtKB
    4. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400]: A disorder characterized by the inability of the thyroid to maintain a concentration difference of readily exchangeable iodine between the plasma and the thyroid gland, leading to congenital hypothyroidism.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti93 – 931G → R in TDH1. 1 Publication
    VAR_010263
    Natural varianti267 – 2671Q → E in TDH1. 1 Publication
    VAR_010265
    Natural varianti354 – 3541T → P in TDH1. 2 Publications
    VAR_010266
    Natural varianti395 – 3951G → R in TDH1. 1 Publication
    VAR_010267
    Natural varianti543 – 5431G → E in TDH1. 1 Publication
    VAR_010269

    Keywords - Diseasei

    Congenital hypothyroidism, Disease mutation

    Organism-specific databases

    MIMi274400. phenotype.
    Orphaneti95716. Familial thyroid dyshormonogenesis.
    PharmGKBiPA35905.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 643643Sodium/iodide cotransporterPRO_0000105383Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi489 – 4891N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi502 – 5021N-linked (GlcNAc...)Sequence Analysis
    Modified residuei556 – 5561Phosphoserine; by PKASequence Analysis

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    PaxDbiQ92911.
    PeptideAtlasiQ92911.
    PRIDEiQ92911.

    PTM databases

    PhosphoSiteiQ92911.

    Expressioni

    Tissue specificityi

    Expression is primarily in thyroid tissue, but also to a lower extent in mammary gland and ovary. Expression is reduced in tumors.2 Publications

    Gene expression databases

    ArrayExpressiQ92911.
    BgeeiQ92911.
    CleanExiHS_SLC5A5.
    GenevestigatoriQ92911.

    Organism-specific databases

    HPAiCAB022364.
    HPA049055.

    Interactioni

    Protein-protein interaction databases

    BioGridi112419. 2 interactions.
    STRINGi9606.ENSP00000222248.

    Structurei

    3D structure databases

    ProteinModelPortaliQ92911.
    SMRiQ92911. Positions 16-476.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 1616ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini38 – 5316CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini75 – 8814ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini110 – 13627CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini158 – 1636ExtracellularSequence Analysis
    Topological domaini185 – 1862CytoplasmicSequence Analysis
    Topological domaini208 – 24134ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini263 – 28624CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini308 – 32619ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini348 – 39144CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini413 – 4164ExtracellularSequence Analysis
    Topological domaini438 – 4447CytoplasmicSequence Analysis
    Topological domaini466 – 52560ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini547 – 64397CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei17 – 3721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei54 – 7421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei89 – 10921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei137 – 15721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei164 – 18421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei187 – 20721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei242 – 26221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei287 – 30721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei327 – 34721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei392 – 41221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei417 – 43721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei445 – 46521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei526 – 54621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0591.
    HOGENOMiHOG000261662.
    HOVERGENiHBG057280.
    InParanoidiQ92911.
    KOiK14385.
    OMAiTFGAWDY.
    OrthoDBiEOG70PBX7.
    PhylomeDBiQ92911.
    TreeFamiTF316728.

    Family and domain databases

    InterProiIPR001734. Na/solute_symporter.
    IPR018212. Na/solute_symporter_CS.
    IPR019900. Na/solute_symporter_subgr.
    [Graphical view]
    PANTHERiPTHR11819. PTHR11819. 1 hit.
    PfamiPF00474. SSF. 1 hit.
    [Graphical view]
    TIGRFAMsiTIGR00813. sss. 1 hit.
    PROSITEiPS00456. NA_SOLUT_SYMP_1. 1 hit.
    PS50283. NA_SOLUT_SYMP_3. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q92911-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEAVETGERP TFGAWDYGVF ALMLLVSTGI GLWVGLARGG QRSAEDFFTG    50
    GRRLAALPVG LSLSASFMSA VQVLGVPSEA YRYGLKFLWM CLGQLLNSVL 100
    TALLFMPVFY RLGLTSTYEY LEMRFSRAVR LCGTLQYIVA TMLYTGIVIY 150
    APALILNQVT GLDIWASLLS TGIICTFYTA VGGMKAVVWT DVFQVVVMLS 200
    GFWVVLARGV MLVGGPRQVL TLAQNHSRIN LMDFNPDPRS RYTFWTFVVG 250
    GTLVWLSMYG VNQAQVQRYV ACRTEKQAKL ALLINQVGLF LIVSSAACCG 300
    IVMFVFYTDC DPLLLGRISA PDQYMPLLVL DIFEDLPGVP GLFLACAYSG 350
    TLSTASTSIN AMAAVTVEDL IKPRLRSLAP RKLVIISKGL SLIYGSACLT 400
    VAALSSLLGG GVLQGSFTVM GVISGPLLGA FILGMFLPAC NTPGVLAGLG 450
    AGLALSLWVA LGATLYPPSE QTMRVLPSSA ARCVALSVNA SGLLDPALLP 500
    ANDSSRAPSS GMDASRPALA DSFYAISYLY YGALGTLTTV LCGALISCLT 550
    GPTKRSTLAP GLLWWDLARQ TASVAPKEEV AILDDNLVKG PEELPTGNKK 600
    PPGFLPTNED RLFFLGQKEL EGAGSWTPCV GHDGGRDQQE TNL 643
    Length:643
    Mass (Da):68,666
    Last modified:February 1, 1997 - v1
    Checksum:i02D361A27B2FDA43
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti93 – 931G → R in TDH1. 1 Publication
    VAR_010263
    Natural varianti102 – 1021A → P.1 Publication
    VAR_010264
    Natural varianti267 – 2671Q → E in TDH1. 1 Publication
    VAR_010265
    Natural varianti298 – 2981C → G.
    Corresponds to variant rs8108188 [ dbSNP | Ensembl ].
    VAR_052490
    Natural varianti354 – 3541T → P in TDH1. 2 Publications
    VAR_010266
    Natural varianti395 – 3951G → R in TDH1. 1 Publication
    VAR_010267
    Natural varianti536 – 5361T → Q Requires 2 nucleotide substitutions. 1 Publication
    VAR_010268
    Natural varianti543 – 5431G → E in TDH1. 1 Publication
    VAR_010269
    Natural varianti556 – 5561S → Q Requires 2 nucleotide substitutions. 1 Publication
    VAR_010270

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U66088 mRNA. Translation: AAB17378.1.
    AC005796 Genomic DNA. Translation: AAC62827.1.
    D87920 mRNA. Translation: BAA24835.1.
    BC105047 mRNA. Translation: AAI05048.1.
    BC105049 mRNA. Translation: AAI05050.1.
    AF260700 mRNA. Translation: AAF70339.1.
    CCDSiCCDS12368.1.
    PIRiJC4974.
    RefSeqiNP_000444.1. NM_000453.2.
    UniGeneiHs.584804.

    Genome annotation databases

    EnsembliENST00000222248; ENSP00000222248; ENSG00000105641.
    GeneIDi6528.
    KEGGihsa:6528.
    UCSCiuc002nhr.4. human.

    Polymorphism databases

    DMDMi12643359.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U66088 mRNA. Translation: AAB17378.1 .
    AC005796 Genomic DNA. Translation: AAC62827.1 .
    D87920 mRNA. Translation: BAA24835.1 .
    BC105047 mRNA. Translation: AAI05048.1 .
    BC105049 mRNA. Translation: AAI05050.1 .
    AF260700 mRNA. Translation: AAF70339.1 .
    CCDSi CCDS12368.1.
    PIRi JC4974.
    RefSeqi NP_000444.1. NM_000453.2.
    UniGenei Hs.584804.

    3D structure databases

    ProteinModelPortali Q92911.
    SMRi Q92911. Positions 16-476.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112419. 2 interactions.
    STRINGi 9606.ENSP00000222248.

    Protein family/group databases

    TCDBi 2.A.21.5.1. the solute:sodium symporter (sss) family.

    PTM databases

    PhosphoSitei Q92911.

    Polymorphism databases

    DMDMi 12643359.

    Proteomic databases

    PaxDbi Q92911.
    PeptideAtlasi Q92911.
    PRIDEi Q92911.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000222248 ; ENSP00000222248 ; ENSG00000105641 .
    GeneIDi 6528.
    KEGGi hsa:6528.
    UCSCi uc002nhr.4. human.

    Organism-specific databases

    CTDi 6528.
    GeneCardsi GC19P017982.
    HGNCi HGNC:11040. SLC5A5.
    HPAi CAB022364.
    HPA049055.
    MIMi 274400. phenotype.
    601843. gene.
    neXtProti NX_Q92911.
    Orphaneti 95716. Familial thyroid dyshormonogenesis.
    PharmGKBi PA35905.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0591.
    HOGENOMi HOG000261662.
    HOVERGENi HBG057280.
    InParanoidi Q92911.
    KOi K14385.
    OMAi TFGAWDY.
    OrthoDBi EOG70PBX7.
    PhylomeDBi Q92911.
    TreeFami TF316728.

    Enzyme and pathway databases

    Reactomei REACT_15292. Thyroxine biosynthesis.
    REACT_19372. Organic anion transporters.

    Miscellaneous databases

    GeneWikii Sodium-iodide_symporter.
    GenomeRNAii 6528.
    NextBioi 25399.
    PROi Q92911.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q92911.
    Bgeei Q92911.
    CleanExi HS_SLC5A5.
    Genevestigatori Q92911.

    Family and domain databases

    InterProi IPR001734. Na/solute_symporter.
    IPR018212. Na/solute_symporter_CS.
    IPR019900. Na/solute_symporter_subgr.
    [Graphical view ]
    PANTHERi PTHR11819. PTHR11819. 1 hit.
    Pfami PF00474. SSF. 1 hit.
    [Graphical view ]
    TIGRFAMsi TIGR00813. sss. 1 hit.
    PROSITEi PS00456. NA_SOLUT_SYMP_1. 1 hit.
    PS50283. NA_SOLUT_SYMP_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
      Tissue: Thyroid.
    2. "Increased expression of the Na+/I- symporter in cultured human thyroid cells exposed to thyrotropin and in Graves' thyroid tissue."
      Saito T., Endo T., Kawaguchi A., Ikeda M., Nakazato M., Kogai T., Onaya T.
      J. Clin. Endocrinol. Metab. 82:3331-3336(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], INDUCTION, TISSUE SPECIFICITY, VARIANTS PRO-102; GLN-536 AND GLN-556.
      Tissue: Thyroid.
    3. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    5. "Characterization of 3'UTR region of the human NIS cDNA."
      Pauws E., Tol N.J., de Vijlder J.J.M., Ris-Stalpers C.
      Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 528-643.
    6. "Congenital hypothyroidism caused by a mutation in the Na(+)/I(-) symporter."
      Fujiwara H., Tatsumi K., Miki K., Harada T., Miyai K., Takai S., Amino N.
      Nat. Genet. 16:124-125(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT TDH1 PRO-354.
    7. "Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients."
      Kosugi S., Inoue S., Matsuda A., Jhiang S.M.
      J. Clin. Endocrinol. Metab. 83:3373-3376(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS TDH1 ARG-93; PRO-354 AND GLU-543.
    8. "Congenital hypothyroidism due to mutations in the sodium/iodide symporter: identification of a nonsense mutation producing a downstream cryptic 3' splice site."
      Pohlenz J., Rosenthal I.M., Weiss R.E., Jhiang S.M., Burant C., Refetoff S.
      J. Clin. Invest. 101:1028-1035(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT TDH1 GLU-267.
    9. "A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect."
      Kosugi S., Bhayana S., Dean H.J.
      J. Clin. Endocrinol. Metab. 84:3248-3253(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT TDH1 ARG-395.

    Entry informationi

    Entry nameiSC5A5_HUMAN
    AccessioniPrimary (citable) accession number: Q92911
    Secondary accession number(s): O43702, Q2M335, Q9NYB6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 24, 2001
    Last sequence update: February 1, 1997
    Last modified: October 1, 2014
    This is version 136 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3