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Q92911

- SC5A5_HUMAN

UniProt

Q92911 - SC5A5_HUMAN

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Protein
Sodium/iodide cotransporter
Gene
SLC5A5, NIS
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Mediates iodide uptake in the thyroid gland.

GO - Molecular functioni

  1. iodide transmembrane transporter activity Source: UniProtKB
  2. sodium:iodide symporter activity Source: Ensembl

GO - Biological processi

  1. cellular nitrogen compound metabolic process Source: Reactome
  2. cellular response to cAMP Source: UniProtKB
  3. cellular response to gonadotropin stimulus Source: UniProtKB
  4. iodide transport Source: UniProtKB
  5. ion transport Source: Reactome
  6. small molecule metabolic process Source: Reactome
  7. thyroid hormone generation Source: Reactome
  8. transmembrane transport Source: Reactome
  9. transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Ion transport, Sodium transport, Symport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

ReactomeiREACT_15292. Thyroxine biosynthesis.
REACT_19372. Organic anion transporters.

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
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:11040. SLC5A5.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1616Extracellular Reviewed prediction
Add
BLAST
Transmembranei17 – 3721Helical; Reviewed prediction
Add
BLAST
Topological domaini38 – 5316Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei54 – 7421Helical; Reviewed prediction
Add
BLAST
Topological domaini75 – 8814Extracellular Reviewed prediction
Add
BLAST
Transmembranei89 – 10921Helical; Reviewed prediction
Add
BLAST
Topological domaini110 – 13627Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei137 – 15721Helical; Reviewed prediction
Add
BLAST
Topological domaini158 – 1636Extracellular Reviewed prediction
Transmembranei164 – 18421Helical; Reviewed prediction
Add
BLAST
Topological domaini185 – 1862Cytoplasmic Reviewed prediction
Transmembranei187 – 20721Helical; Reviewed prediction
Add
BLAST
Topological domaini208 – 24134Extracellular Reviewed prediction
Add
BLAST
Transmembranei242 – 26221Helical; Reviewed prediction
Add
BLAST
Topological domaini263 – 28624Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei287 – 30721Helical; Reviewed prediction
Add
BLAST
Topological domaini308 – 32619Extracellular Reviewed prediction
Add
BLAST
Transmembranei327 – 34721Helical; Reviewed prediction
Add
BLAST
Topological domaini348 – 39144Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei392 – 41221Helical; Reviewed prediction
Add
BLAST
Topological domaini413 – 4164Extracellular Reviewed prediction
Transmembranei417 – 43721Helical; Reviewed prediction
Add
BLAST
Topological domaini438 – 4447Cytoplasmic Reviewed prediction
Transmembranei445 – 46521Helical; Reviewed prediction
Add
BLAST
Topological domaini466 – 52560Extracellular Reviewed prediction
Add
BLAST
Transmembranei526 – 54621Helical; Reviewed prediction
Add
BLAST
Topological domaini547 – 64397Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. integral component of membrane Source: ProtInc
  3. nucleus Source: UniProtKB
  4. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti93 – 931G → R in TDH1. 1 Publication
VAR_010263
Natural varianti267 – 2671Q → E in TDH1. 1 Publication
VAR_010265
Natural varianti354 – 3541T → P in TDH1. 2 Publications
VAR_010266
Natural varianti395 – 3951G → R in TDH1. 1 Publication
VAR_010267
Natural varianti543 – 5431G → E in TDH1. 1 Publication
VAR_010269

Keywords - Diseasei

Congenital hypothyroidism, Disease mutation

Organism-specific databases

MIMi274400. phenotype.
Orphaneti95716. Familial thyroid dyshormonogenesis.
PharmGKBiPA35905.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 643643Sodium/iodide cotransporter
PRO_0000105383Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi489 – 4891N-linked (GlcNAc...) Reviewed prediction
Glycosylationi502 – 5021N-linked (GlcNAc...) Reviewed prediction
Modified residuei556 – 5561Phosphoserine; by PKA Reviewed prediction

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ92911.
PeptideAtlasiQ92911.
PRIDEiQ92911.

PTM databases

PhosphoSiteiQ92911.

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

ArrayExpressiQ92911.
BgeeiQ92911.
CleanExiHS_SLC5A5.
GenevestigatoriQ92911.

Organism-specific databases

HPAiCAB022364.
HPA049055.

Interactioni

Protein-protein interaction databases

BioGridi112419. 2 interactions.
STRINGi9606.ENSP00000222248.

Structurei

3D structure databases

ProteinModelPortaliQ92911.
SMRiQ92911. Positions 16-476.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0591.
HOGENOMiHOG000261662.
HOVERGENiHBG057280.
InParanoidiQ92911.
KOiK14385.
OMAiTFGAWDY.
OrthoDBiEOG70PBX7.
PhylomeDBiQ92911.
TreeFamiTF316728.

Family and domain databases

InterProiIPR001734. Na/solute_symporter.
IPR018212. Na/solute_symporter_CS.
IPR019900. Na/solute_symporter_subgr.
[Graphical view]
PANTHERiPTHR11819. PTHR11819. 1 hit.
PfamiPF00474. SSF. 1 hit.
[Graphical view]
TIGRFAMsiTIGR00813. sss. 1 hit.
PROSITEiPS00456. NA_SOLUT_SYMP_1. 1 hit.
PS50283. NA_SOLUT_SYMP_3. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q92911-1 [UniParc]FASTAAdd to Basket

« Hide

MEAVETGERP TFGAWDYGVF ALMLLVSTGI GLWVGLARGG QRSAEDFFTG    50
GRRLAALPVG LSLSASFMSA VQVLGVPSEA YRYGLKFLWM CLGQLLNSVL 100
TALLFMPVFY RLGLTSTYEY LEMRFSRAVR LCGTLQYIVA TMLYTGIVIY 150
APALILNQVT GLDIWASLLS TGIICTFYTA VGGMKAVVWT DVFQVVVMLS 200
GFWVVLARGV MLVGGPRQVL TLAQNHSRIN LMDFNPDPRS RYTFWTFVVG 250
GTLVWLSMYG VNQAQVQRYV ACRTEKQAKL ALLINQVGLF LIVSSAACCG 300
IVMFVFYTDC DPLLLGRISA PDQYMPLLVL DIFEDLPGVP GLFLACAYSG 350
TLSTASTSIN AMAAVTVEDL IKPRLRSLAP RKLVIISKGL SLIYGSACLT 400
VAALSSLLGG GVLQGSFTVM GVISGPLLGA FILGMFLPAC NTPGVLAGLG 450
AGLALSLWVA LGATLYPPSE QTMRVLPSSA ARCVALSVNA SGLLDPALLP 500
ANDSSRAPSS GMDASRPALA DSFYAISYLY YGALGTLTTV LCGALISCLT 550
GPTKRSTLAP GLLWWDLARQ TASVAPKEEV AILDDNLVKG PEELPTGNKK 600
PPGFLPTNED RLFFLGQKEL EGAGSWTPCV GHDGGRDQQE TNL 643
Length:643
Mass (Da):68,666
Last modified:February 1, 1997 - v1
Checksum:i02D361A27B2FDA43
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti93 – 931G → R in TDH1. 1 Publication
VAR_010263
Natural varianti102 – 1021A → P.1 Publication
VAR_010264
Natural varianti267 – 2671Q → E in TDH1. 1 Publication
VAR_010265
Natural varianti298 – 2981C → G.
Corresponds to variant rs8108188 [ dbSNP | Ensembl ].
VAR_052490
Natural varianti354 – 3541T → P in TDH1. 2 Publications
VAR_010266
Natural varianti395 – 3951G → R in TDH1. 1 Publication
VAR_010267
Natural varianti536 – 5361T → Q Requires 2 nucleotide substitutions. 1 Publication
VAR_010268
Natural varianti543 – 5431G → E in TDH1. 1 Publication
VAR_010269
Natural varianti556 – 5561S → Q Requires 2 nucleotide substitutions. 1 Publication
VAR_010270

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.

Polymorphism databases

DMDMi12643359.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UniGenei Hs.584804.

3D structure databases

ProteinModelPortali Q92911.
SMRi Q92911. Positions 16-476.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112419. 2 interactions.
STRINGi 9606.ENSP00000222248.

Protein family/group databases

TCDBi 2.A.21.5.1. the solute:sodium symporter (sss) family.

PTM databases

PhosphoSitei Q92911.

Polymorphism databases

DMDMi 12643359.

Proteomic databases

PaxDbi Q92911.
PeptideAtlasi Q92911.
PRIDEi Q92911.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000222248 ; ENSP00000222248 ; ENSG00000105641 .
GeneIDi 6528.
KEGGi hsa:6528.
UCSCi uc002nhr.4. human.

Organism-specific databases

CTDi 6528.
GeneCardsi GC19P017982.
HGNCi HGNC:11040. SLC5A5.
HPAi CAB022364.
HPA049055.
MIMi 274400. phenotype.
601843. gene.
neXtProti NX_Q92911.
Orphaneti 95716. Familial thyroid dyshormonogenesis.
PharmGKBi PA35905.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0591.
HOGENOMi HOG000261662.
HOVERGENi HBG057280.
InParanoidi Q92911.
KOi K14385.
OMAi TFGAWDY.
OrthoDBi EOG70PBX7.
PhylomeDBi Q92911.
TreeFami TF316728.

Enzyme and pathway databases

Reactomei REACT_15292. Thyroxine biosynthesis.
REACT_19372. Organic anion transporters.

Miscellaneous databases

GeneWikii Sodium-iodide_symporter.
GenomeRNAii 6528.
NextBioi 25399.
PROi Q92911.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q92911.
Bgeei Q92911.
CleanExi HS_SLC5A5.
Genevestigatori Q92911.

Family and domain databases

InterProi IPR001734. Na/solute_symporter.
IPR018212. Na/solute_symporter_CS.
IPR019900. Na/solute_symporter_subgr.
[Graphical view ]
PANTHERi PTHR11819. PTHR11819. 1 hit.
Pfami PF00474. SSF. 1 hit.
[Graphical view ]
TIGRFAMsi TIGR00813. sss. 1 hit.
PROSITEi PS00456. NA_SOLUT_SYMP_1. 1 hit.
PS50283. NA_SOLUT_SYMP_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    Tissue: Thyroid.
  2. "Increased expression of the Na+/I- symporter in cultured human thyroid cells exposed to thyrotropin and in Graves' thyroid tissue."
    Saito T., Endo T., Kawaguchi A., Ikeda M., Nakazato M., Kogai T., Onaya T.
    J. Clin. Endocrinol. Metab. 82:3331-3336(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], INDUCTION, TISSUE SPECIFICITY, VARIANTS PRO-102; GLN-536 AND GLN-556.
    Tissue: Thyroid.
  3. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  5. "Characterization of 3'UTR region of the human NIS cDNA."
    Pauws E., Tol N.J., de Vijlder J.J.M., Ris-Stalpers C.
    Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 528-643.
  6. "Congenital hypothyroidism caused by a mutation in the Na(+)/I(-) symporter."
    Fujiwara H., Tatsumi K., Miki K., Harada T., Miyai K., Takai S., Amino N.
    Nat. Genet. 16:124-125(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TDH1 PRO-354.
  7. "Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients."
    Kosugi S., Inoue S., Matsuda A., Jhiang S.M.
    J. Clin. Endocrinol. Metab. 83:3373-3376(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS TDH1 ARG-93; PRO-354 AND GLU-543.
  8. "Congenital hypothyroidism due to mutations in the sodium/iodide symporter: identification of a nonsense mutation producing a downstream cryptic 3' splice site."
    Pohlenz J., Rosenthal I.M., Weiss R.E., Jhiang S.M., Burant C., Refetoff S.
    J. Clin. Invest. 101:1028-1035(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TDH1 GLU-267.
  9. "A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect."
    Kosugi S., Bhayana S., Dean H.J.
    J. Clin. Endocrinol. Metab. 84:3248-3253(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TDH1 ARG-395.

Entry informationi

Entry nameiSC5A5_HUMAN
AccessioniPrimary (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: September 3, 2014
This is version 135 of the entry and version 1 of the sequence. [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. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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