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

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; 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: mouse all
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Genomic context

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

D1S1361 (e-PCR)
- UniSTS:149557

D10S16 (e-PCR)
- UniSTS:155756

STS-U66088 (e-PCR)
- UniSTS:42867

D1S1425 (e-PCR)
- UniSTS:149621

D22S296 (e-PCR)
- UniSTS:147641

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 more info	PubMed
located_in extracellular vesicle	HDA more info	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

NG_012930.1 RefSeqGene

Range

4973..28202

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

17871945..17895174

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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