InnateDB Protein
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IDBP-37421.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SLC5A5
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Protein Name
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solute carrier family 5 (sodium iodide symporter), member 5
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Synonyms
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NIS; TDH1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000222248
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InnateDB Gene
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IDBG-37419 (SLC5A5)
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Protein Structure
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Function |
Mediates iodide uptake in the thyroid gland.
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Subcellular Localization |
Membrane; Multi-pass membrane protein.
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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.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001734
Sodium/solute symporter
IPR019900
Sodium/solute symporter, subgroup
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PFAM |
PF00474
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q92911
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PhosphoSite |
PhosphoSite-Q92911
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TrEMBL |
Q9UEU3
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UniProt Splice Variant |
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Entrez Gene |
6528
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UniGene |
Hs.584804
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RefSeq |
NP_000444
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HUGO |
HGNC:11040
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OMIM |
601843
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CCDS |
CCDS12368
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HPRD |
03504
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IMGT |
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EMBL |
AC005796
AF059566
AF260700
BC105047
BC105049
D87920
U66088
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GenPept |
AAB17378
AAC14697
AAC62827
AAF70339
AAI05048
AAI05050
BAA24835
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