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Protein

Sodium/iodide cotransporter

Gene

SLC5A5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Mediates iodide uptake in the thyroid gland.

GO - Molecular functioni

  • iodide transmembrane transporter activity Source: UniProtKB
  • sodium:iodide symporter activity Source: GO_Central

GO - Biological processi

Keywordsi

Biological processIon transport, Sodium transport, Symport, Transport
LigandSodium

Enzyme and pathway databases

ReactomeiR-HSA-209968 Thyroxine biosynthesis
R-HSA-428643 Organic anion transporters
R-HSA-5619096 Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1)
SIGNORiQ92911

Protein family/group databases

TCDBi2.A.21.5.1 the solute:sodium symporter (sss) family

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium/iodide cotransporter
Short 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000105641.3
HGNCiHGNC:11040 SLC5A5
MIMi601843 gene
neXtProtiNX_Q92911

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 16ExtracellularSequence analysisAdd BLAST16
Transmembranei17 – 37HelicalSequence analysisAdd BLAST21
Topological domaini38 – 53CytoplasmicSequence analysisAdd BLAST16
Transmembranei54 – 74HelicalSequence analysisAdd BLAST21
Topological domaini75 – 88ExtracellularSequence analysisAdd BLAST14
Transmembranei89 – 109HelicalSequence analysisAdd BLAST21
Topological domaini110 – 136CytoplasmicSequence analysisAdd BLAST27
Transmembranei137 – 157HelicalSequence analysisAdd BLAST21
Topological domaini158 – 163ExtracellularSequence analysis6
Transmembranei164 – 184HelicalSequence analysisAdd BLAST21
Topological domaini185 – 186CytoplasmicSequence analysis2
Transmembranei187 – 207HelicalSequence analysisAdd BLAST21
Topological domaini208 – 241ExtracellularSequence analysisAdd BLAST34
Transmembranei242 – 262HelicalSequence analysisAdd BLAST21
Topological domaini263 – 286CytoplasmicSequence analysisAdd BLAST24
Transmembranei287 – 307HelicalSequence analysisAdd BLAST21
Topological domaini308 – 326ExtracellularSequence analysisAdd BLAST19
Transmembranei327 – 347HelicalSequence analysisAdd BLAST21
Topological domaini348 – 391CytoplasmicSequence analysisAdd BLAST44
Transmembranei392 – 412HelicalSequence analysisAdd BLAST21
Topological domaini413 – 416ExtracellularSequence analysis4
Transmembranei417 – 437HelicalSequence analysisAdd BLAST21
Topological domaini438 – 444CytoplasmicSequence analysis7
Transmembranei445 – 465HelicalSequence analysisAdd BLAST21
Topological domaini466 – 525ExtracellularSequence analysisAdd BLAST60
Transmembranei526 – 546HelicalSequence analysisAdd BLAST21
Topological domaini547 – 643CytoplasmicSequence analysisAdd BLAST97

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Thyroid dyshormonogenesis 1 (TDH1)4 Publications
The disease is caused by mutations 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.
See also OMIM:274400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01026393G → R in TDH1. 1 PublicationCorresponds to variant dbSNP:rs121909178EnsemblClinVar.1
Natural variantiVAR_010265267Q → E in TDH1. 1 PublicationCorresponds to variant dbSNP:rs121909176EnsemblClinVar.1
Natural variantiVAR_010266354T → P in TDH1. 2 PublicationsCorresponds to variant dbSNP:rs121909174EnsemblClinVar.1
Natural variantiVAR_010267395G → R in TDH1. 1 PublicationCorresponds to variant dbSNP:rs121909180EnsemblClinVar.1
Natural variantiVAR_010269543G → E in TDH1. 1 PublicationCorresponds to variant dbSNP:rs121909179EnsemblClinVar.1

Keywords - Diseasei

Congenital hypothyroidism, Disease mutation

Organism-specific databases

DisGeNETi6528
MalaCardsiSLC5A5
MIMi274400 phenotype
OpenTargetsiENSG00000105641
Orphaneti95716 Familial thyroid dyshormonogenesis
PharmGKBiPA35905

Polymorphism and mutation databases

BioMutaiSLC5A5
DMDMi12643359

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001053831 – 643Sodium/iodide cotransporterAdd BLAST643

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi489N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi502N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei556Phosphoserine; by PKASequence analysis1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ92911
PeptideAtlasiQ92911
PRIDEiQ92911
ProteomicsDBi75594

PTM databases

iPTMnetiQ92911
PhosphoSitePlusiQ92911

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

BgeeiENSG00000105641 Expressed in 84 organ(s), highest expression level in thyroid gland
CleanExiHS_SLC5A5
GenevisibleiQ92911 HS

Organism-specific databases

HPAiCAB022364
HPA049055

Interactioni

Protein-protein interaction databases

BioGridi112419, 14 interactors
IntActiQ92911, 2 interactors
STRINGi9606.ENSP00000222248

Structurei

3D structure databases

ProteinModelPortaliQ92911
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2349 Eukaryota
COG0591 LUCA
GeneTreeiENSGT00760000118955
HOGENOMiHOG000261662
HOVERGENiHBG057280
InParanoidiQ92911
KOiK14385
OMAiATFGAWD
OrthoDBiEOG091G07OC
PhylomeDBiQ92911
TreeFamiTF316728

Family and domain databases

CDDicd11503 SLC5sbd_NIS, 1 hit
Gene3Di1.20.1730.10, 1 hit
InterProiView protein in InterPro
IPR038377 Na/Glc_symporter_sf
IPR001734 Na/solute_symporter
IPR018212 Na/solute_symporter_CS
IPR035689 SLC5A5
PfamiView protein in Pfam
PF00474 SSF, 1 hit
TIGRFAMsiTIGR00813 sss, 1 hit
PROSITEiView protein in PROSITE
PS00456 NA_SOLUT_SYMP_1, 1 hit
PS50283 NA_SOLUT_SYMP_3, 1 hit

Sequencei

Sequence statusi: Complete.

Q92911-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:643
Mass (Da):68,666
Last modified:February 1, 1997 - v1
Checksum:i02D361A27B2FDA43
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01026393G → R in TDH1. 1 PublicationCorresponds to variant dbSNP:rs121909178EnsemblClinVar.1
Natural variantiVAR_010264102A → P1 Publication1
Natural variantiVAR_010265267Q → E in TDH1. 1 PublicationCorresponds to variant dbSNP:rs121909176EnsemblClinVar.1
Natural variantiVAR_052490298C → G. Corresponds to variant dbSNP:rs8108188Ensembl.1
Natural variantiVAR_010266354T → P in TDH1. 2 PublicationsCorresponds to variant dbSNP:rs121909174EnsemblClinVar.1
Natural variantiVAR_010267395G → R in TDH1. 1 PublicationCorresponds to variant dbSNP:rs121909180EnsemblClinVar.1
Natural variantiVAR_010268536T → Q Requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_010269543G → E in TDH1. 1 PublicationCorresponds to variant dbSNP:rs121909179EnsemblClinVar.1
Natural variantiVAR_010270556S → Q Requires 2 nucleotide substitutions. 1 Publication1

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
CCDSiCCDS12368.1
PIRiJC4974
RefSeqiNP_000444.1, NM_000453.2
UniGeneiHs.584804

Genome annotation databases

EnsembliENST00000222248; ENSP00000222248; ENSG00000105641
GeneIDi6528
KEGGihsa:6528
UCSCiuc002nhr.4 human

Keywords - Coding sequence diversityi

Polymorphism

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
CCDSiCCDS12368.1
PIRiJC4974
RefSeqiNP_000444.1, NM_000453.2
UniGeneiHs.584804

3D structure databases

ProteinModelPortaliQ92911
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112419, 14 interactors
IntActiQ92911, 2 interactors
STRINGi9606.ENSP00000222248

Protein family/group databases

TCDBi2.A.21.5.1 the solute:sodium symporter (sss) family

PTM databases

iPTMnetiQ92911
PhosphoSitePlusiQ92911

Polymorphism and mutation databases

BioMutaiSLC5A5
DMDMi12643359

Proteomic databases

PaxDbiQ92911
PeptideAtlasiQ92911
PRIDEiQ92911
ProteomicsDBi75594

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000222248; ENSP00000222248; ENSG00000105641
GeneIDi6528
KEGGihsa:6528
UCSCiuc002nhr.4 human

Organism-specific databases

CTDi6528
DisGeNETi6528
EuPathDBiHostDB:ENSG00000105641.3
GeneCardsiSLC5A5
HGNCiHGNC:11040 SLC5A5
HPAiCAB022364
HPA049055
MalaCardsiSLC5A5
MIMi274400 phenotype
601843 gene
neXtProtiNX_Q92911
OpenTargetsiENSG00000105641
Orphaneti95716 Familial thyroid dyshormonogenesis
PharmGKBiPA35905
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2349 Eukaryota
COG0591 LUCA
GeneTreeiENSGT00760000118955
HOGENOMiHOG000261662
HOVERGENiHBG057280
InParanoidiQ92911
KOiK14385
OMAiATFGAWD
OrthoDBiEOG091G07OC
PhylomeDBiQ92911
TreeFamiTF316728

Enzyme and pathway databases

ReactomeiR-HSA-209968 Thyroxine biosynthesis
R-HSA-428643 Organic anion transporters
R-HSA-5619096 Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1)
SIGNORiQ92911

Miscellaneous databases

ChiTaRSiSLC5A5 human
GeneWikiiSodium-iodide_symporter
GenomeRNAii6528
PROiPR:Q92911
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000105641 Expressed in 84 organ(s), highest expression level in thyroid gland
CleanExiHS_SLC5A5
GenevisibleiQ92911 HS

Family and domain databases

CDDicd11503 SLC5sbd_NIS, 1 hit
Gene3Di1.20.1730.10, 1 hit
InterProiView protein in InterPro
IPR038377 Na/Glc_symporter_sf
IPR001734 Na/solute_symporter
IPR018212 Na/solute_symporter_CS
IPR035689 SLC5A5
PfamiView protein in Pfam
PF00474 SSF, 1 hit
TIGRFAMsiTIGR00813 sss, 1 hit
PROSITEiView protein in PROSITE
PS00456 NA_SOLUT_SYMP_1, 1 hit
PS50283 NA_SOLUT_SYMP_3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSC5A5_HUMAN
AccessioniPrimary (citable) accession number: Q92911
Secondary accession number(s): O43702, Q2M335, Q9NYB6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: February 1, 1997
Last modified: November 7, 2018
This is version 169 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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