Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    SLC5A5 solute carrier family 5 member 5 [ Homo sapiens (human) ]

    Gene ID: 6528, updated on 21-Dec-2017
    Official Symbol
    SLC5A5provided by HGNC
    Official Full Name
    solute carrier family 5 member 5provided by HGNC
    Primary source
    HGNC:HGNC:11040
    See related
    Ensembl:ENSG00000105641 MIM:601843; Vega:OTTHUMG00000183447
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NIS; TDH1
    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]
    Expression
    Biased expression in stomach (RPKM 21.5), salivary gland (RPKM 11.5) and 1 other tissue See more
    Orthologs
    Location:
    19p13.11
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (17871394..17895175)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17982641..18005983)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Janus kinase 3 Neighboring gene ribosomal protein L18a Neighboring gene small nucleolar RNA, H/ACA box 68 Neighboring gene coiled-coil domain containing 124 Neighboring gene potassium calcium-activated channel subfamily N member 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Amine-derived hormones, organism-specific biosystem (from REACTOME)
      Amine-derived hormones, organism-specific biosystemCatecholamines and thyroxine are synthesized from tyrosine, and serotonin and melatonin from tryptophan.
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
      Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
    • NRF2 pathway, organism-specific biosystem (from WikiPathways)
      NRF2 pathway, organism-specific biosystemNRF2 is part of a group of transcription factors called nuclear receptors. It is activated under oxidative stress conditions and subsequently activates several antioxidative genes and proteins.
    • Organic anion transporters, organism-specific biosystem (from REACTOME)
      Organic anion transporters, organism-specific biosystemThe SLC17 gene family encode proteins which are organic anion transporters. There are three distinct subfamilies within SLC17; vesicular glutamate transporters (VGLUT1-3 encoded by SLC17A7,6 and 8), ...
    • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
      SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
    • Thyroid hormone synthesis, organism-specific biosystem (from KEGG)
      Thyroid hormone synthesis, organism-specific biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...
    • Thyroid hormone synthesis, conserved biosystem (from KEGG)
      Thyroid hormone synthesis, conserved biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...
    • Thyroxine (Thyroid Hormone) Production, organism-specific biosystem (from WikiPathways)
      Thyroxine (Thyroid Hormone) Production, organism-specific biosystemThyroxine hormone is produced in the thyroid gland from tyrosine and iodine. Thyrotropin-releasing hormone (TRH) is produced by the hypothalamus. It stimulates the production of thyroid-stimulating h...
    • Thyroxine biosynthesis, organism-specific biosystem (from REACTOME)
      Thyroxine biosynthesis, organism-specific biosystemThyroxine (3,5,3',5'-tetraiodothyronine, T4) promotes normal growth and development. It also regulates heat and energy production. T4 is released from the thyroid gland, the largest endocrine organ i...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystem (from REACTOME)
      Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystemTeleologically, one might argue that inorganic cation and anion transport would be evolutionarily among the oldest transport functions. Eight families comprise the group that transports exclusively i...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    iodide transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    iodide transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    sodium:iodide symporter activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    anion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to cAMP IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    cellular response to gonadotropin stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    iodide transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ion transport TAS
    Traceable Author Statement
    more info
     
    sodium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    thyroid hormone generation TAS
    Traceable Author Statement
    more info
     
    transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular exosome HDA PubMed 
    extracellular vesicle HDA PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    sodium/iodide cotransporter
    Names
    Na(+)/I(-) cotransporter
    Na(+)/I(-) symporter
    solute carrier family 5 (sodium iodide symporter), member 5
    solute carrier family 5 (sodium/iodide cotransporter), member 5

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012930.1 RefSeqGene

      Range
      5001..28202
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000453.2NP_000444.1  sodium/iodide cotransporter

      See identical proteins and their annotated locations for NP_000444.1

      Status: REVIEWED

      Source sequence(s)
      AC005796, AF260700, U66088
      Consensus CDS
      CCDS12368.1
      UniProtKB/Swiss-Prot
      Q92911
      Related
      ENSP00000222248.2, OTTHUMP00000271711, ENST00000222248.3, OTTHUMT00000466690
      Conserved Domains (1) summary
      cd11503
      Location:15554
      SLC5sbd_NIS; Na(+)/iodide cotransporter NIS and related proteins; solute-binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      17871394..17895175
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528192.2XP_011526494.1  sodium/iodide cotransporter isoform X1

      Conserved Domains (1) summary
      cd11503
      Location:15565
      SLC5sbd_NIS; Na(+)/iodide cotransporter NIS and related proteins; solute-binding domain
    2. XM_011528193.2XP_011526495.1  sodium/iodide cotransporter isoform X2

      Conserved Domains (1) summary
      cl00456
      Location:1476
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
    3. XM_017027158.1XP_016882647.1  sodium/iodide cotransporter isoform X3

    4. XM_011528194.2XP_011526496.1  sodium/iodide cotransporter isoform X4

      Conserved Domains (1) summary
      cl00456
      Location:1443
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      17982521..18005714
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center