SLC5A5 - solute carrier family 5 member 5 Gene

Also Known as NIS; TDH1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6528

About SLC5A5

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:17,871,945-17,895,174 (from NCBI)

This gene has 2 transcripts (splice variants), 211 orthologues, 11 paralogues and is associated with 3 phenotypes. Biased expression in stomach (RPKM 21.5), salivary gland (RPKM 11.5) and 1 other tissue.

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]

SLC5A5 Products (1)

mRNA	Protein	Name
NM_000453.3	NP_000444.1	sodium/iodide cotransporter

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables iodide transmembrane transporter activity	IDA IDA: Inferred from direct assay	21988488	GOA
enables iodide transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	12021185	GOA
enables monoatomic anion:sodium symporter activity	IDA IDA: Inferred from direct assay	12488351	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	18372236	GOA
enables sodium:iodide symporter activity	IDA IDA: Inferred from direct assay	8806637	GOA
enables sodium:iodide symporter activity	IMP IMP: Inferred from mutant phenotype	18708479	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to Thyroid stimulating hormone	IDA IDA: Inferred from direct assay	9329364	GOA
involved in cellular response to cAMP	IEP IEP: Inferred from expression pattern	12021185	GOA
involved in cellular response to forskolin	IDA IDA: Inferred from direct assay	9329364	GOA
involved in cellular response to gonadotropin stimulus	IEP IEP: Inferred from expression pattern	12021185	GOA
involved in iodide transmembrane transport	IDA IDA: Inferred from direct assay	21988488	GOA
involved in iodide transmembrane transport	IMP IMP: Inferred from mutant phenotype	26831514	GOA
involved in iodide transport	IMP IMP: Inferred from mutant phenotype	12021185	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	18372236	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15961562	GOA
is active in plasma membrane	IDA IDA: Inferred from direct assay	26599396	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	18372236	GOA
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	18708479	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC5A5 Protein Structure

SSF

0
100
200
300
400
500
600
643 a.a.

Protein Preferred Names	Protein Names
sodium/iodide cotransporter	Na(+)/I(-) cotransporter

SLC5A5 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SLC5A5	Q92911	NOTCH2NLC	Homo sapiens	P0DPK4	Y2H Prey Pooling	32296183
Intra	SLC5A5	Q92911	NOTCH2NLC	Homo sapiens	P0DPK4	Y2H Array	32296183
Intra	SLC5A5	Q92911	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	SLC5A5	Q92911	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Thyroid Dyshormonogenesis 1	TDH1 Hypothyroidism, Congenital, Due To Dyshormonogenesis, 1 Genetic Defect In Thyroid Hormonogenesis 1 Thyroid Hormonogenesis, Genetic Defect In, 1 Iodine Accumulation, Transport, Or Trapping Defect Iodide Accumulation, Transport, Or Trapping Defect Chdh1 Congenital Hypothyroidism Due To Dyshormonogenesis Type 1 Iodine Accumulation, Transport Or Trapping Defect
Congenital Hypothyroidism	Cretinism Neonatal Hypothyroidism Ch Cht Congenital Myxedema Myxedema, Congenital Endemic Cretinism Congenital Iodine-Deficiency Syndrome Fetal Iodine Deficiency Syndrome Congenital Iodine-Deficiency Hypothyroidism Nos
Familial Thyroid Dyshormonogenesis	Thyroid Dyshormonogenesis Familial Dyshormonogenetic Goiter
Goiter	Goitre
Hypothyroidism	Thyroid Diseases Thyroid Disease Thyroid Deficiency Thyroid Insufficiency Dysfunction Thyroid Thyroid Dysfunction
Nodular Goiter	Goiter, Nodular Nodular Goitre Goiter Nodular Non-Toxic Nodular Goiter
Thyroid Gland Cancer	Thyroid Gland Carcinoma Malignant Neoplasm Of Thyroid Gland Malignant Tumour Of Thyroid Gland Thyroid Neoplasm Thyroid Neoplasms Neoplasm Of Thyroid Gland Thyroid Gland Neoplasm Head And Neck Cancer, Thyroid Neoplasm Of The Thyroid Gland Cancer Of The Thyroid Primary Malignant Neoplasm Of Thyroglossal Duct Malignant Neoplasm Of Thyroglossal Duct Primary Malignant Neoplasm Of Thyroid Gland Thyroglossal Duct Cancer Toxic Goitre Malignant Tumour Cancerous Goitre
Dyshormonogenic Goiter	Dyshormonogenic Goitre
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Neonatal Diabetes Mellitus With Congenital Hypothyroidism Ndh Syndrome NDH Neonatal Diabetes-Congenital Hypothyroidism-Congenital Glaucoma-Hepatic Fibrosis-Polycystic Kidneys Syndrome
Ovarian Serous Cystadenofibroma
Suppurative Thyroiditis	Thyroiditis, Suppurative Acute Suppurative Thyroiditis Infectious Thyroiditis
Thyroid Gland Disease	Abnormality Of The Thyroid Gland Thyroid Diseases
Ovarian Serous Adenofibroma
Thyroid Gland Follicular Carcinoma	Follicular Thyroid Carcinoma Follicular Adenocarcinoma Follicular Adenocarcinoma, Well Differentiated Follicular Carcinoma Thyroid Adenocarcinoma Adenocarcinoma, Follicular
Endemic Goiter	Iodine-Deficiency-Related Endemic Goitre Simple Goitre Goiter, Endemic Euthyroid Goiter
Sialolithiasis	Sialolith Stone Of Salivary Gland Or Duct Salivary Gland Calculi Salivary Gland Stone Calculus Of Salivary Gland Or Duct Calculus Of Salivary Gland Salivary Calculus Salivary Gland Calculus Salivary Stone Salivary Duct Calculi Sialodocholithiasis
Graves Disease 1	Thyrotoxicosis Graves Disease, Susceptibility To, 1 GRD1 Grd Hyperthyroidism, Autoimmune Hyperthyroidism Hyperactive Thyroid Gland Overactive Thyroid Toxic Diffuse Goitre Toxic Primary Thyroid Hyperplasia Stokes Disease Thyrotoxicosis With Goitre Thyrotoxicosis Struma Graves Disease Goitre With Hyperthyroidism Basedow Disease Exophthalmic Goitre Exophthalmic Struma Flajani Disease Graves Disease With Exophthalmos Hyperthyroid Goitre Hyperthyroidism Struma Thyroid Exophthalmos Malignant Exophthalmos Parry Disease Toxic Diffuse Goitre With Exophthalmos Toxic Goitre Toxic Goitre Nos Thyrotoxicosis Due To Uninodular Goitre Toxic Thyroid Nodule Toxic Uninodular Goitre Uninodular Toxic Struma Uninodular Toxic Struma With Hyperthyroidism Thyrotoxicosis Due To Single Thyroid Nodule Toxic Uninodular Goitre With Hyperthyroidism Hyperthyroidism With Thyroid Nodule Thyrotoxicosis With Toxic Uninodular Goitre Uninodular Goitre In Hyperthyroidism Uninodular Goitre In Thyrotoxicosis Toxic Multinodular Goitre Multinodular Goitre With Thyrotoxicosis Thyrotoxicosis Nodular Goitre Nodular Goitre With Thyrotoxicosis Adenomatous Goitre With Hyperthyroidism Multinodular Goitre With Hyperthyroidism Nodular Goitre With Hyperthyroidism Nodular Struma With Hyperthyroidism Plummer Disease Thyrotoxicosis Adenomatous Goitre Thyrotoxicosis Adenomatous Struma Toxic Adenomatous Goitre Toxic Adenomatous Struma Toxic Nodular Goitre Nos Toxic Struma Nodosa Toxic Nodular Struma
Excessive Tearing	Epiphora Lacrimal Apparatus Diseases Excessive Tear Production Watering Eye
Inner Ear Disease	Labyrinthine Dysfunction Diseases Of Inner Ear Labyrinthine Disease Abnormality Of The Inner Ear Labyrinth Diseases Labyrinthine Disorder Nonfunctioning Labyrinth Labyrinthine Loss Of Function Labyrinthine Syndrome Labyrinthine Disorder Nos
Multinodular Goiter
Plummer'S Disease	Toxic Nodular Goiter Plummer Disease Goiter Toxic Nodular
Pendred Syndrome	Goiter-Deafness Syndrome Deafness With Goiter PDS Thyroid Dyshormonogenesis 2b Tdh2b Autosomal Recessive Sensorineural Hearing Impairment And Goiter Pendred'S Syndrome Thyroid Hormonogenesis, Genetic Defect In, 2b Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b Congenital Hypothyroidism Due To Dyshormonogenesis 2b Genetic Defect In Thyroid Hormonogenesis 2b Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter Goiter-Hearing Loss Syndrome Goitre-Deafness Syndrome Goitre Deafness
Thyroid Gland Anaplastic Carcinoma	Anaplastic Thyroid Carcinoma Anaplastic Thyroid Cancer Thyroid Cancer, Anaplastic Thyroid Carcinoma, Anaplastic Thyroid Carcinoma Anaplastic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13291	SLC5A5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SLC5A5	VGNC	VGNC:65403
Canis familiaris	SLC5A5	VGNC	VGNC:46448
Rattus norvegicus	SLC5A5	RGD	RGD:69267
Bos taurus	SLC5A5	VGNC	VGNC:34908
Mus musculus	SLC5A5	MGD	MGI:2149330
Macaca mulatta	SLC5A5	VGNC	VGNC:77613
Others	SLC5A5	NCBI