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

Gene ID: 6528, updated on 7-Apr-2024

Summary

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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; AllianceGenome:HGNC:11040
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

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Location:
19p13.11
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (17871945..17895174)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (18005850..18029260)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17982754..18005983)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17941863-17942447 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17942448-17943031 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:17952872-17953108 Neighboring gene Janus kinase 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17970267-17971002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17972474-17973210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17973211-17973945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14287 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr19:17979569-17980222 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr19:17980223-17980876 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17984524-17985296 Neighboring gene ribosomal protein L18a Neighboring gene small nucleolar RNA, H/ACA box 68 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17988651-17989150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14288 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18029877-18030622 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:18030623-18031368 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:18033123-18033624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14290 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:18042902-18043440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14291 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14292 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10363 Neighboring gene coiled-coil domain containing 124 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10364 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18062016-18062634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18062635-18063252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18063253-18063870 Neighboring gene MPRA-validated peak3398 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18073163-18073735 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18076903-18077620 Neighboring gene potassium calcium-activated channel subfamily N member 1 Neighboring gene RNA, 5S ribosomal pseudogene 468

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. The effect of sodium iodide symporter protein on ablation success in patients with differentiated thyroid cancer. Mutevelızade G, et al. Ann Nucl Med, 2022 Dec. PMID 36214955
  2. Seaweed and Iodine Intakes and SLC5A5 rs77277498 in Relation to Thyroid Cancer. Hoang T, et al. Endocrinol Metab (Seoul), 2022 Jun. PMID 35607818, Free PMC Article
  3. Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism. Geysels RC, et al. Front Endocrinol (Lausanne), 2022. PMID 35600585, Free PMC Article
  4. Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism. Durgia H, et al. Thyroid, 2022 Feb. PMID 34806438, Free PMC Article
  5. An Intramolecular Ionic Interaction Linking Defective Sodium/Iodide Symporter Transport to the Plasma Membrane and Dyshormonogenic Congenital Hypothyroidism. Bernal Barquero CE, et al. Thyroid, 2022 Jan. PMID 34726525

See all (180) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The effect of sodium iodide symporter protein on ablation success in patients with differentiated thyroid cancer.
    Title: The effect of sodium iodide symporter protein on ablation success in patients with differentiated thyroid cancer.
  2. Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism.
    Title: Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism.
  3. Seaweed and Iodine Intakes and SLC5A5 rs77277498 in Relation to Thyroid Cancer.
    Title: Seaweed and Iodine Intakes and SLC5A5 rs77277498 in Relation to Thyroid Cancer.
  4. Impact of the Mutational Landscape of the Sodium/Iodide Symporter in Congenital Hypothyroidism.
    Title: Impact of the Mutational Landscape of the Sodium/Iodide Symporter in Congenital Hypothyroidism.
  5. Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism.
    Title: Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism.
  6. The complex regulation of NIS expression and activity in thyroid and extrathyroidal tissues.
    Title: The complex regulation of NIS expression and activity in thyroid and extrathyroidal tissues.
  7. An Intramolecular Ionic Interaction Linking Defective Sodium/Iodide Symporter Transport to the Plasma Membrane and Dyshormonogenic Congenital Hypothyroidism.
    Title: An Intramolecular Ionic Interaction Linking Defective Sodium/Iodide Symporter Transport to the Plasma Membrane and Dyshormonogenic Congenital Hypothyroidism.
  8. The Iodide Transport Defect-Causing Y348D Mutation in the Na(+)/I(-) Symporter Renders the Protein Intrinsically Inactive and Impairs Its Targeting to the Plasma Membrane.
    Title: The Iodide Transport Defect-Causing Y348D Mutation in the Na(+)/I(-) Symporter Renders the Protein Intrinsically Inactive and Impairs Its Targeting to the Plasma Membrane.
  9. Downregulation of Rap1GAP Expression Activates the TGF-beta/Smad3 Pathway to Inhibit the Expression of Sodium/Iodine Transporter in Papillary Thyroid Carcinoma Cells.
    Title: Downregulation of Rap1GAP Expression Activates the TGF-β/Smad3 Pathway to Inhibit the Expression of Sodium/Iodine Transporter in Papillary Thyroid Carcinoma Cells.
  10. Clinical characteristics, surgical approach, BRAFV600E mutation and sodium iodine symporter expression in pediatric patients with thyroid carcinoma.
    Title: Clinical characteristics, surgical approach, BRAFV600E mutation and sodium iodine symporter expression in pediatric patients with thyroid carcinoma.
Submit: New GeneRIF Correction See all GeneRIFs (140)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Familial thyroid dyshormonogenesis 1
MedGen: C1848805 OMIM: 274400 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 monoatomic anion:sodium symporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables sodium:iodide symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables sodium:iodide symporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables sodium:iodide symporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables sodium:iodide symporter activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in cellular response to Thyroid stimulating hormone IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to cAMP IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in cellular response to forskolin IDA
Inferred from Direct Assay
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
  
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 monoatomic ion transport TAS
Traceable Author Statement
more info
  
involved_in sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in sodium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
  
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 cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
located_in extracellular vesicle HDA PubMed 
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
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 
located_in plasma membrane IMP
Inferred from Mutant Phenotype
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

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Preferred Names
sodium/iodide cotransporter
Names
Na(+)/I(-) cotransporter
Na(+)/I(-) symporter
natrium iodide transporter
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_000453.3 → NP_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
    O43702, Q2M335, Q92911, Q9NYB6
    Related
    ENSP00000222248.2, ENST00000222248.4
    Conserved Domains (1) summary
    cd11503
    Location:15 → 554
    SLC5sbd_NIS; Na(+)/iodide cotransporter NIS and related proteins; solute-binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    17871945..17895174
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528192.3 → XP_011526494.1  sodium/iodide cotransporter isoform X1

    Conserved Domains (1) summary
    cd11503
    Location:15 → 565
    SLC5sbd_NIS; Na(+)/iodide cotransporter NIS and related proteins; solute-binding domain

  2. XM_011528193.4 → XP_011526495.1  sodium/iodide cotransporter isoform X2

    Conserved Domains (1) summary
    cl00456
    Location:1 → 476
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  3. XM_017027158.2 → XP_016882647.1  sodium/iodide cotransporter isoform X3

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

    Conserved Domains (1) summary
    cl00456
    Location:1 → 443
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    18005850..18029260
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054321803.1 → XP_054177778.1  sodium/iodide cotransporter isoform X2

  2. XM_054321804.1 → XP_054177779.1  sodium/iodide cotransporter isoform X3

  3. XM_054321802.1 → XP_054177777.1  sodium/iodide cotransporter isoform X1

  4. XM_054321805.1 → XP_054177780.1  sodium/iodide cotransporter isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92911.1 GenPept UniProtKB/Swiss-Prot:Q92911

Gene LinkOut

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