SLC5A5
Sodium/iodide cotransporter
Also known as: NIS, SC5A5_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q92911
- Gene
- SLC5A5
- Ensembl
- ENSG00000105641
- Chromosome
- 19
- Canonical length
- 643 aa
- Protein class
- Disease related genes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted membrane proteins, Transporters
OverviewNCBI Gene
This gene encodes a member of the sodium glucose cotransporter family. The encoded protein is responsible for the uptake of iodine in tissues such as the thyroid and lactating breast tissue. The iodine taken up by the thyroid is incorporated into the metabolic regulators triiodothyronine (T3) and tetraiodothyronine (T4). Mutations in this gene are associated with thyroid dyshormonogenesis 1.[provided by RefSeq, Sep 2009]
Canonical amino-acid sequenceUniProt
643 residues, UniProt reviewed canonical sequence.
>Q92911|SLC5A5
1 MEAVETGERP TFGAWDYGVF ALMLLVSTGI GLWVGLARGG QRSAEDFFTG GRRLAALPVG
61 LSLSASFMSA VQVLGVPSEA YRYGLKFLWM CLGQLLNSVL TALLFMPVFY RLGLTSTYEY
121 LEMRFSRAVR LCGTLQYIVA TMLYTGIVIY APALILNQVT GLDIWASLLS TGIICTFYTA
181 VGGMKAVVWT DVFQVVVMLS GFWVVLARGV MLVGGPRQVL TLAQNHSRIN LMDFNPDPRS
241 RYTFWTFVVG GTLVWLSMYG VNQAQVQRYV ACRTEKQAKL ALLINQVGLF LIVSSAACCG
301 IVMFVFYTDC DPLLLGRISA PDQYMPLLVL DIFEDLPGVP GLFLACAYSG TLSTASTSIN
361 AMAAVTVEDL IKPRLRSLAP RKLVIISKGL SLIYGSACLT VAALSSLLGG GVLQGSFTVM
421 GVISGPLLGA FILGMFLPAC NTPGVLAGLG AGLALSLWVA LGATLYPPSE QTMRVLPSSA
481 ARCVALSVNA SGLLDPALLP ANDSSRAPSS GMDASRPALA DSFYAISYLY YGALGTLTTV
541 LCGALISCLT GPTKRSTLAP GLLWWDLARQ TASVAPKEEV AILDDNLVKG PEELPTGNKK
601 PPGFLPTNED RLFFLGQKEL EGAGSWTPCV GHDGGRDQQE TNLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC5A5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 13
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 134 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 134 nTPM
- salivary gland: 61 nTPM
- stomach: 56 nTPM
- thyroid gland: 11 nTPM
- cervix: 5.2 nTPM
- cerebellum: 2.1 nTPM
Single-cell type
- foveolar cells: 852 nCPM
- conjunctival goblet cells: 552 nCPM
- choroid plexus epithelial cells: 419 nCPM
- retinal pigment epithelial cells: 68 nCPM
- salivary duct cells: 49 nCPM
- breast lactating cells: 31 nCPM
Immune cell
- naive CD4 T-cell: 1.2 nTPM
- basophil: 1 nTPM
- memory CD4 T-cell: 0.9 nTPM
- naive CD8 T-cell: 0.9 nTPM
- neutrophil: 0.6 nTPM
- T-reg: 0.6 nTPM
Brain region
- choroid plexus: 352 nTPM
- hippocampal formation: 23 nTPM
- cerebellum: 13 nTPM
- thalamus: 8.4 nTPM
- cerebral cortex: 4.1 nTPM
- midbrain: 2.9 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC5A5.
Disease | AllUniProt
Conditions SLC5A5 is implicated in, by any mechanism.
- Thyroid dyshormonogenesis 1 (TDH1) MIM:274400
Disease | GeneticClinVar
51 pathogenic / likely-pathogenic of 569 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Thyroid dyshormonogenesis 1
- SLC5A5-related disorder
- Congenital hypothyroidism
- congenital hypothyreodism
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.56
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.92
- DepMap mean gene effect
- -0.23
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to cAMP
- cellular response to forskolin
- cellular response to gonadotropin stimulus
- cellular response to Thyroid stimulating hormone
- iodide transmembrane transport
- iodide transport
- monoatomic ion transport
- sodium ion transport
- thyroid hormone generation
- transport across blood-brain barrier
Molecular functions
- iodide transmembrane transporter activity
- metal ion binding
- monoatomic anion:sodium symporter activity
- protein homodimerization activity
- sodium:iodide symporter activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC5A5 as an antibody target. Whether an autoantibody or antibody against SLC5A5 could matter depends on whether native SLC5A5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC5A5 is annotated at the cell surface, where native SLC5A5 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SLC5A5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...