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

    Gene ID: 6528, updated on 26-Jul-2021

    Summary

    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
    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
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    Genomic context

    See SLC5A5 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (17871394..17895175)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17982754..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 Neighboring gene RNA, 5S ribosomal pseudogene 468

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables iodide transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables iodide transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables iodide transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables iodide transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sodium:iodide symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables sodium:iodide symporter activity TAS
    Traceable Author Statement
    more info
     
    enables symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to cAMP IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to gonadotropin stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in iodide transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in iodide transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in iodide transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in iodide transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in iodide transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ion transport TAS
    Traceable Author Statement
    more info
     
    involved_in sodium ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in thyroid hormone generation TAS
    Traceable Author Statement
    more info
     
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in extracellular vesicle HDA PubMed 
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    located_in plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

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    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
      4973..28202
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000453.3NP_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, ENST00000222248.4
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 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_011528193.3XP_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_011528194.3XP_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
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