Homo sapiens Protein: SLC5A5
Summary
InnateDB Protein IDBP-37421.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC5A5
Protein Name solute carrier family 5 (sodium iodide symporter), member 5
Synonyms NIS; TDH1;
Species Homo sapiens
Ensembl Protein ENSP00000222248
InnateDB Gene IDBG-37419 (SLC5A5)
Protein Structure
UniProt Annotation
Function Mediates iodide uptake in the thyroid gland.
Subcellular Localization Membrane; Multi-pass membrane protein.
Disease Associations Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400]: A disorder characterized by the inability of the thyroid to maintain a concentration difference of readily exchangeable iodine between the plasma and the thyroid gland, leading to congenital hypothyroidism. {ECO:0000269PubMed:10487695, ECO:0000269PubMed:9171822, ECO:0000269PubMed:9486973, ECO:0000269PubMed:9745458}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expression is primarily in thyroid tissue, but also to a lower extent in mammary gland and ovary. Expression is reduced in tumors. {ECO:0000269PubMed:8806637, ECO:0000269PubMed:9329364}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005215 transporter activity
GO:0008507 sodium:iodide symporter activity
GO:0015111 iodide transmembrane transporter activity
GO:0015293 symporter activity
Biological Process
GO:0006590 thyroid hormone generation
GO:0006810 transport
GO:0006811 ion transport
GO:0015705 iodide transport
GO:0034641 cellular nitrogen compound metabolic process
GO:0035725 sodium ion transmembrane transport
GO:0044281 small molecule metabolic process
GO:0055085 transmembrane transport
GO:0071320 cellular response to cAMP
GO:0071371 cellular response to gonadotropin stimulus
Cellular Component
GO:0005634 nucleus
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR001734 Sodium/solute symporter
IPR019900 Sodium/solute symporter, subgroup
PFAM PF00474
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q92911
PhosphoSite PhosphoSite-Q92911
TrEMBL Q9UEU3
UniProt Splice Variant
Entrez Gene 6528
UniGene Hs.584804
RefSeq NP_000444
HUGO HGNC:11040
OMIM 601843
CCDS CCDS12368
HPRD 03504
IMGT
EMBL AC005796 AF059566 AF260700 BC105047 BC105049 D87920 U66088
GenPept AAB17378 AAC14697 AAC62827 AAF70339 AAI05048 AAI05050 BAA24835