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

Gene ID: 6528, updated on 16-Sep-2018

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; 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

Genomic context

See SLC5A5 in Genome Data Viewer
Location:
19p13.11
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
iodide transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium:iodide symporter activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iodide transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
ion transport TAS
Traceable Author Statement
more info
 
sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
thyroid hormone generation TAS
Traceable Author Statement
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
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
 

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)

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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 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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