UniProtKB - Q92911 (SC5A5_HUMAN)
Protein
Sodium/iodide cotransporter
Gene
SLC5A5
Organism
Homo sapiens (Human)
Status
Functioni
Mediates iodide uptake in the thyroid gland.
GO - Molecular functioni
- iodide transmembrane transporter activity Source: ARUK-UCL
- sodium:iodide symporter activity Source: GO_Central
- symporter activity Source: GO_Central
GO - Biological processi
- cellular response to cAMP Source: UniProtKB
- cellular response to gonadotropin stimulus Source: UniProtKB
- iodide transmembrane transport Source: ARUK-UCL
- iodide transport Source: UniProtKB
- ion transport Source: Reactome
- sodium ion transport Source: GO_Central
- thyroid hormone generation Source: Reactome
- transport across blood-brain barrier Source: ARUK-UCL
Keywordsi
Biological process | Ion transport, Sodium transport, Symport, Transport |
Ligand | Sodium |
Enzyme and pathway databases
PathwayCommonsi | Q92911 |
Reactomei | R-HSA-209968, Thyroxine biosynthesis R-HSA-428643, Organic anion transporters R-HSA-5619096, Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1) |
SIGNORi | Q92911 |
Protein family/group databases
TCDBi | 2.A.21.5.1, the solute:sodium symporter (sss) family |
Names & Taxonomyi
Protein namesi | Recommended name: Sodium/iodide cotransporterShort name: Na(+)/I(-) cotransporter Alternative name(s): Sodium-iodide symporter Short name: Na(+)/I(-) symporter Solute carrier family 5 member 5 |
Gene namesi | Name:SLC5A5 Synonyms:NIS |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11040, SLC5A5 |
MIMi | 601843, gene |
neXtProti | NX_Q92911 |
VEuPathDBi | HostDB:ENSG00000105641.3 |
Subcellular locationi
Other locations
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
- extracellular vesicle Source: UniProtKB
Nucleus
- nucleus Source: UniProtKB
Plasma Membrane
- plasma membrane Source: ARUK-UCL
Other locations
- integral component of membrane Source: ProtInc
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 16 | ExtracellularSequence analysisAdd BLAST | 16 | |
Transmembranei | 17 – 37 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 38 – 53 | CytoplasmicSequence analysisAdd BLAST | 16 | |
Transmembranei | 54 – 74 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 75 – 88 | ExtracellularSequence analysisAdd BLAST | 14 | |
Transmembranei | 89 – 109 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 110 – 136 | CytoplasmicSequence analysisAdd BLAST | 27 | |
Transmembranei | 137 – 157 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 158 – 163 | ExtracellularSequence analysis | 6 | |
Transmembranei | 164 – 184 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 185 – 186 | CytoplasmicSequence analysis | 2 | |
Transmembranei | 187 – 207 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 208 – 241 | ExtracellularSequence analysisAdd BLAST | 34 | |
Transmembranei | 242 – 262 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 263 – 286 | CytoplasmicSequence analysisAdd BLAST | 24 | |
Transmembranei | 287 – 307 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 308 – 326 | ExtracellularSequence analysisAdd BLAST | 19 | |
Transmembranei | 327 – 347 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 348 – 391 | CytoplasmicSequence analysisAdd BLAST | 44 | |
Transmembranei | 392 – 412 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 413 – 416 | ExtracellularSequence analysis | 4 | |
Transmembranei | 417 – 437 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 438 – 444 | CytoplasmicSequence analysis | 7 | |
Transmembranei | 445 – 465 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 466 – 525 | ExtracellularSequence analysisAdd BLAST | 60 | |
Transmembranei | 526 – 546 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 547 – 643 | CytoplasmicSequence analysisAdd BLAST | 97 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Involvement in diseasei
Thyroid dyshormonogenesis 1 (TDH1)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010263 | 93 | G → R in TDH1. 1 PublicationCorresponds to variant dbSNP:rs121909178EnsemblClinVar. | 1 | |
Natural variantiVAR_010265 | 267 | Q → E in TDH1. 1 PublicationCorresponds to variant dbSNP:rs121909176EnsemblClinVar. | 1 | |
Natural variantiVAR_010266 | 354 | T → P in TDH1. 2 PublicationsCorresponds to variant dbSNP:rs121909174EnsemblClinVar. | 1 | |
Natural variantiVAR_010267 | 395 | G → R in TDH1. 1 PublicationCorresponds to variant dbSNP:rs121909180EnsemblClinVar. | 1 | |
Natural variantiVAR_010269 | 543 | G → E in TDH1. 1 PublicationCorresponds to variant dbSNP:rs121909179EnsemblClinVar. | 1 |
Keywords - Diseasei
Congenital hypothyroidism, Disease variantOrganism-specific databases
DisGeNETi | 6528 |
MalaCardsi | SLC5A5 |
MIMi | 274400, phenotype |
OpenTargetsi | ENSG00000105641 |
Orphaneti | 95716, Familial thyroid dyshormonogenesis |
PharmGKBi | PA35905 |
Miscellaneous databases
Pharosi | Q92911, Tbio |
Chemistry databases
DrugBanki | DB05382, Iodine DB09418, Potassium perchlorate |
Genetic variation databases
BioMutai | SLC5A5 |
DMDMi | 12643359 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000105383 | 1 – 643 | Sodium/iodide cotransporterAdd BLAST | 643 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 489 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 502 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 556 | Phosphoserine; by PKASequence analysis | 1 |
Keywords - PTMi
Glycoprotein, PhosphoproteinProteomic databases
MassIVEi | Q92911 |
PaxDbi | Q92911 |
PeptideAtlasi | Q92911 |
PRIDEi | Q92911 |
ProteomicsDBi | 75594 |
PTM databases
GlyGeni | Q92911, 2 sites |
iPTMneti | Q92911 |
PhosphoSitePlusi | Q92911 |
Expressioni
Tissue specificityi
Expression is primarily in thyroid tissue, but also to a lower extent in mammary gland and ovary. Expression is reduced in tumors.2 Publications
Gene expression databases
Bgeei | ENSG00000105641, Expressed in stomach and 99 other tissues |
Genevisiblei | Q92911, HS |
Organism-specific databases
HPAi | ENSG00000105641, Group enriched (brain, salivary gland, stomach) |
Interactioni
Binary interactionsi
Hide detailsQ92911
With | #Exp. | IntAct |
---|---|---|
CYSRT1 [A8MQ03] | 3 | EBI-12313867,EBI-3867333 |
NOTCH2NLC [P0DPK4] | 3 | EBI-12313867,EBI-22310682 |
Protein-protein interaction databases
BioGRIDi | 112419, 22 interactors |
IntActi | Q92911, 11 interactors |
STRINGi | 9606.ENSP00000222248 |
Miscellaneous databases
RNActi | Q92911, protein |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2349, Eukaryota |
GeneTreei | ENSGT00940000159489 |
HOGENOMi | CLU_018808_11_1_1 |
InParanoidi | Q92911 |
OMAi | ASFRLYL |
OrthoDBi | 1180002at2759 |
PhylomeDBi | Q92911 |
TreeFami | TF316728 |
Family and domain databases
CDDi | cd11503, SLC5sbd_NIS, 1 hit |
Gene3Di | 1.20.1730.10, 1 hit |
InterProi | View protein in InterPro IPR038377, Na/Glc_symporter_sf IPR001734, Na/solute_symporter IPR018212, Na/solute_symporter_CS IPR035689, SLC5A5 |
Pfami | View protein in Pfam PF00474, SSF, 1 hit |
TIGRFAMsi | TIGR00813, sss, 1 hit |
PROSITEi | View protein in PROSITE PS00456, NA_SOLUT_SYMP_1, 1 hit PS50283, NA_SOLUT_SYMP_3, 1 hit |
i Sequence
Sequence statusi: Complete.
Q92911-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MEAVETGERP TFGAWDYGVF ALMLLVSTGI GLWVGLARGG QRSAEDFFTG
60 70 80 90 100
GRRLAALPVG LSLSASFMSA VQVLGVPSEA YRYGLKFLWM CLGQLLNSVL
110 120 130 140 150
TALLFMPVFY RLGLTSTYEY LEMRFSRAVR LCGTLQYIVA TMLYTGIVIY
160 170 180 190 200
APALILNQVT GLDIWASLLS TGIICTFYTA VGGMKAVVWT DVFQVVVMLS
210 220 230 240 250
GFWVVLARGV MLVGGPRQVL TLAQNHSRIN LMDFNPDPRS RYTFWTFVVG
260 270 280 290 300
GTLVWLSMYG VNQAQVQRYV ACRTEKQAKL ALLINQVGLF LIVSSAACCG
310 320 330 340 350
IVMFVFYTDC DPLLLGRISA PDQYMPLLVL DIFEDLPGVP GLFLACAYSG
360 370 380 390 400
TLSTASTSIN AMAAVTVEDL IKPRLRSLAP RKLVIISKGL SLIYGSACLT
410 420 430 440 450
VAALSSLLGG GVLQGSFTVM GVISGPLLGA FILGMFLPAC NTPGVLAGLG
460 470 480 490 500
AGLALSLWVA LGATLYPPSE QTMRVLPSSA ARCVALSVNA SGLLDPALLP
510 520 530 540 550
ANDSSRAPSS GMDASRPALA DSFYAISYLY YGALGTLTTV LCGALISCLT
560 570 580 590 600
GPTKRSTLAP GLLWWDLARQ TASVAPKEEV AILDDNLVKG PEELPTGNKK
610 620 630 640
PPGFLPTNED RLFFLGQKEL EGAGSWTPCV GHDGGRDQQE TNL
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010263 | 93 | G → R in TDH1. 1 PublicationCorresponds to variant dbSNP:rs121909178EnsemblClinVar. | 1 | |
Natural variantiVAR_010264 | 102 | A → P1 Publication | 1 | |
Natural variantiVAR_010265 | 267 | Q → E in TDH1. 1 PublicationCorresponds to variant dbSNP:rs121909176EnsemblClinVar. | 1 | |
Natural variantiVAR_052490 | 298 | C → G. Corresponds to variant dbSNP:rs8108188EnsemblClinVar. | 1 | |
Natural variantiVAR_010266 | 354 | T → P in TDH1. 2 PublicationsCorresponds to variant dbSNP:rs121909174EnsemblClinVar. | 1 | |
Natural variantiVAR_010267 | 395 | G → R in TDH1. 1 PublicationCorresponds to variant dbSNP:rs121909180EnsemblClinVar. | 1 | |
Natural variantiVAR_010268 | 536 | T → Q Requires 2 nucleotide substitutions. 1 Publication | 1 | |
Natural variantiVAR_010269 | 543 | G → E in TDH1. 1 PublicationCorresponds to variant dbSNP:rs121909179EnsemblClinVar. | 1 | |
Natural variantiVAR_010270 | 556 | S → Q Requires 2 nucleotide substitutions. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U66088 mRNA Translation: AAB17378.1 AC005796 Genomic DNA Translation: AAC62827.1 D87920 mRNA Translation: BAA24835.1 BC105047 mRNA Translation: AAI05048.1 BC105049 mRNA Translation: AAI05050.1 AF260700 mRNA Translation: AAF70339.1 |
CCDSi | CCDS12368.1 |
PIRi | JC4974 |
RefSeqi | NP_000444.1, NM_000453.2 |
Genome annotation databases
Ensembli | ENST00000222248; ENSP00000222248; ENSG00000105641 |
GeneIDi | 6528 |
KEGGi | hsa:6528 |
UCSCi | uc002nhr.4, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U66088 mRNA Translation: AAB17378.1 AC005796 Genomic DNA Translation: AAC62827.1 D87920 mRNA Translation: BAA24835.1 BC105047 mRNA Translation: AAI05048.1 BC105049 mRNA Translation: AAI05050.1 AF260700 mRNA Translation: AAF70339.1 |
CCDSi | CCDS12368.1 |
PIRi | JC4974 |
RefSeqi | NP_000444.1, NM_000453.2 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 112419, 22 interactors |
IntActi | Q92911, 11 interactors |
STRINGi | 9606.ENSP00000222248 |
Chemistry databases
DrugBanki | DB05382, Iodine DB09418, Potassium perchlorate |
Protein family/group databases
TCDBi | 2.A.21.5.1, the solute:sodium symporter (sss) family |
PTM databases
GlyGeni | Q92911, 2 sites |
iPTMneti | Q92911 |
PhosphoSitePlusi | Q92911 |
Genetic variation databases
BioMutai | SLC5A5 |
DMDMi | 12643359 |
Proteomic databases
MassIVEi | Q92911 |
PaxDbi | Q92911 |
PeptideAtlasi | Q92911 |
PRIDEi | Q92911 |
ProteomicsDBi | 75594 |
Protocols and materials databases
Antibodypediai | 14944, 561 antibodies |
Genome annotation databases
Ensembli | ENST00000222248; ENSP00000222248; ENSG00000105641 |
GeneIDi | 6528 |
KEGGi | hsa:6528 |
UCSCi | uc002nhr.4, human |
Organism-specific databases
CTDi | 6528 |
DisGeNETi | 6528 |
GeneCardsi | SLC5A5 |
HGNCi | HGNC:11040, SLC5A5 |
HPAi | ENSG00000105641, Group enriched (brain, salivary gland, stomach) |
MalaCardsi | SLC5A5 |
MIMi | 274400, phenotype 601843, gene |
neXtProti | NX_Q92911 |
OpenTargetsi | ENSG00000105641 |
Orphaneti | 95716, Familial thyroid dyshormonogenesis |
PharmGKBi | PA35905 |
VEuPathDBi | HostDB:ENSG00000105641.3 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2349, Eukaryota |
GeneTreei | ENSGT00940000159489 |
HOGENOMi | CLU_018808_11_1_1 |
InParanoidi | Q92911 |
OMAi | ASFRLYL |
OrthoDBi | 1180002at2759 |
PhylomeDBi | Q92911 |
TreeFami | TF316728 |
Enzyme and pathway databases
PathwayCommonsi | Q92911 |
Reactomei | R-HSA-209968, Thyroxine biosynthesis R-HSA-428643, Organic anion transporters R-HSA-5619096, Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1) |
SIGNORi | Q92911 |
Miscellaneous databases
BioGRID-ORCSi | 6528, 6 hits in 990 CRISPR screens |
ChiTaRSi | SLC5A5, human |
GeneWikii | Sodium-iodide_symporter |
GenomeRNAii | 6528 |
Pharosi | Q92911, Tbio |
PROi | PR:Q92911 |
RNActi | Q92911, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000105641, Expressed in stomach and 99 other tissues |
Genevisiblei | Q92911, HS |
Family and domain databases
CDDi | cd11503, SLC5sbd_NIS, 1 hit |
Gene3Di | 1.20.1730.10, 1 hit |
InterProi | View protein in InterPro IPR038377, Na/Glc_symporter_sf IPR001734, Na/solute_symporter IPR018212, Na/solute_symporter_CS IPR035689, SLC5A5 |
Pfami | View protein in Pfam PF00474, SSF, 1 hit |
TIGRFAMsi | TIGR00813, sss, 1 hit |
PROSITEi | View protein in PROSITE PS00456, NA_SOLUT_SYMP_1, 1 hit PS50283, NA_SOLUT_SYMP_3, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SC5A5_HUMAN | |
Accessioni | Q92911Primary (citable) accession number: Q92911 Secondary accession number(s): O43702, Q2M335, Q9NYB6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 24, 2001 |
Last sequence update: | February 1, 1997 | |
Last modified: | April 7, 2021 | |
This is version 185 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families