SLC5A5
entrez
6528
canonical
uniprot
Q92911
canonical
ensembl
ENSG00000105641
resolver
ensp
ENSP00000222248
resolver
enst
ENST00000222248
resolver
genesymbol
SLC5A5
resolver
genesymbol_syn
NIS
resolver
hgnc
HGNC:11040
resolver
uniprot
O43702
resolver
uniprot
Q2M335
resolver
uniprot
Q9NYB6
resolver
uniprot_entry
SC5A5_HUMAN
resolver
uniprot_sec
O43702
resolver
uniprot_sec
Q2M335
resolver
uniprot_sec
Q9NYB6
resolver
activity_regulation
ACTIVITY REGULATION: Dysidenin and perchlorate inhibit iodide transport activity (PubMed:12488351, PubMed:18708479, PubMed:32084174). Oxyanions inhibit iodide transport activity by blocking the binding sites for iodide and one of the sodium ions (By similarity). {ECO:0000250|UniProtKB:Q63008, ECO:0000269|PubMed:12488351, ECO:0000269|PubMed:18708479, ECO:0000269|PubMed:32084174}.
uniprot
proteins
amino_acid_sequence
MEAVETGERPTFGAWDYGVFALMLLVSTGIGLWVGLARGGQRSAEDFFTGGRRLAALPVGLSLSASFMSAVQVLGVPSEAYRYGLKFLWMCLGQLLNSVLTALLFMPVFYRLGLTSTYEYLEMRFSRAVRLCGTLQYIVATMLYTGIVIYAPALILNQVTGLDIWASLLSTGIICTFYTAVGGMKAVVWTDVFQVVVMLSGFWVVLARGVMLVGGPRQVLTLAQNHSRINLMDFNPDPRSRYTFWTFVVGGTLVWLSMYGVNQAQVQRYVACRTEKQAKLALLINQVGLFLIVSSAACCGIVMFVFYTDCDPLLLGRISAPDQYMPLLVLDIFEDLPGVPGLFLACAYSGTLSTASTSINAMAAVTVEDLIKPRLRSLAPRKLVIISKGLSLIYGSACLTVAALSSLLGGGVLQGSFTVMGVISGPLLGAFILGMFLPACNTPGVLAGLGAGLALSLWVALGATLYPPSEQTMRVLPSSAARCVALSVNASGLLDPALLPANDSSRAPSSGMDASRPALADSFYAISYLYYGALGTLTTVLCGALISCLTGPTKRSTLAPGLLWWDLARQTASVAPKEEVAILDDNLVKGPEELPTGNKKPPGFLPTNEDRLFFLGQKELEGAGSWTPCVGHDGGRDQQETNL
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:10487695, ECO:0000269|PubMed:9171822, ECO:0000269|PubMed:9486973, ECO:0000269|PubMed:9745458}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Sodium:iodide symporter that mediates the transport of iodide into the thyroid gland (PubMed:12488351, PubMed:18372236, PubMed:18708479, PubMed:20797386, PubMed:31310151, PubMed:32084174, PubMed:8806637, PubMed:9329364). Can also mediate the transport of chlorate, thiocynate, nitrate and selenocynate (PubMed:12488351). {ECO:0000269|PubMed:12488351, ECO:0000269|PubMed:18372236, ECO:0000269|PubMed:18708479, ECO:0000269|PubMed:20797386, ECO:0000269|PubMed:31310151, ECO:0000269|PubMed:32084174, ECO:0000269|PubMed:8806637, ECO:0000269|PubMed:9329364}.
uniprot
proteins
mass_dalton
68666
uniprot
proteins
mutagenesis
MUTAGEN 226; /note="H->A,D,E,K: Significant loss of iodide transport activity but no effect on its localization to the cell membrane."; /evidence="ECO:0000269|PubMed:18708479"; MUTAGEN 237; /note="D->A: Loss of localization to the cell membrane, significant loss of iodide transport activity but no effect on homodimerization."; /evidence="ECO:0000269|PubMed:31310151"; MUTAGEN 242; /note="Y->A: Loss of localization to the cell membrane, significant loss of iodide transport activity but no effect on homodimerization. Reduced homodimerization; when associated with A-471. Loss of iodide transport activity; when associated with F-535."; /evidence="ECO:0000269|PubMed:31310151"; MUTAGEN 243; /note="T->A: Loss of localization to the cell membrane, significant loss of iodide transport activity but no effect on homodimerization. Reduced homodimerization; when associated with A-471."; /evidence="ECO:0000269|PubMed:31310151"; MUTAGEN 471; /note="Q->A: No effect on localization to the cell membrane, iodide transport activity and homodimerization. Significant loss of homodimerization; when associated with A-242 or A243."; /evidence="ECO:0000269|PubMed:31310151"; MUTAGEN 525; /note="A->F: Loss of localization to the cell membrane, significant loss of iodide transport activity but no effect on homodimerization. Loss of iodide transport activity; when associated with A-242."; /evidence="ECO:0000269|PubMed:31310151
uniprot
proteins
post_translational_modification
PTM: Glycosylated. {ECO:0000269|PubMed:18372236, ECO:0000269|PubMed:20797386, ECO:0000269|PubMed:31310151}.
uniprot
proteins
protein_family
Sodium:solute symporter (SSF) (TC 2.A.21) family
uniprot
proteins
pubmed
10487695
uniprot
proteins
pubmed
12488351
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18372236
uniprot
proteins
pubmed
18708479
uniprot
proteins
pubmed
20797386
uniprot
proteins
pubmed
31310151
uniprot
proteins
pubmed
32084174
uniprot
proteins
pubmed
8806637
uniprot
proteins
pubmed
9171822
uniprot
proteins
pubmed
9329364
uniprot
proteins
pubmed
9486973
uniprot
proteins
pubmed
9745458
uniprot
proteins
sequence_length
643
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18372236, ECO:0000269|PubMed:18708479, ECO:0000269|PubMed:20797386, ECO:0000269|PubMed:31310151}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q63008}. Cytoplasm {ECO:0000269|PubMed:18372236, ECO:0000269|PubMed:31310151}.
uniprot
proteins
transmembrane_region
TRANSMEM 15..31; /note="Helical; Name=1"; /evidence="ECO:0000250|UniProtKB:Q63008"; TRANSMEM 57..80; /note="Discontinuously helical; Name=2"; /evidence="ECO:0000250|UniProtKB:Q63008"; TRANSMEM 85..105; /note="Helical; Name=3"; /evidence="ECO:0000250|UniProtKB:Q63008"; TRANSMEM 131..157; /note="Helical; Name=4"; /evidence="ECO:0000250|UniProtKB:Q63008"; TRANSMEM 164..181; /note="Helical; Name=5"; /evidence="ECO:0000250|UniProtKB:Q63008"; TRANSMEM 190..208; /note="Helical; Name=6"; /evidence="ECO:0000250|UniProtKB:Q63008"; TRANSMEM 244..266; /note="Discontinuously helical; Name=7"; /evidence="ECO:0000250|UniProtKB:Q63008"; TRANSMEM 279..301; /note="Helical; Name=8"; /evidence="ECO:0000250|UniProtKB:Q63008"; TRANSMEM 336..363; /note="Helical; Name=9"; /evidence="ECO:0000250|UniProtKB:Q63008"; TRANSMEM 387..408; /note="Helical; Name=10"; /evidence="ECO:0000250|UniProtKB:Q63008"; TRANSMEM 412..437; /note="Helical; Name=11"; /evidence="ECO:0000250|UniProtKB:Q63008"; TRANSMEM 442..465; /note="Helical; Name=12"; /evidence="ECO:0000250|UniProtKB:Q63008"; TRANSMEM 526..550; /note="Helical; Name=13"; /evidence="ECO:0000250|UniProtKB:Q63008
uniprot
proteins