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Aliases for SLC5A5 Gene

Aliases for SLC5A5 Gene

  • Solute Carrier Family 5 Member 5 2 3 4
  • Solute Carrier Family 5 (Sodium/Iodide Cotransporter), Member 5 2 3 5
  • Solute Carrier Family 5 (Sodium Iodide Symporter), Member 5 2 3
  • Na(+)/I(-) Cotransporter 3 4
  • Na(+)/I(-) Symporter 3 4
  • NIS 3 4
  • Sodium-Iodide Symporter 4
  • TDH1 3

External Ids for SLC5A5 Gene

Previous GeneCards Identifiers for SLC5A5 Gene

  • GC19P018476
  • GC19P018374
  • GC19P017827
  • GC19P017843
  • GC19P017982
  • GC19P017548
  • GC19P017976
  • GC19P018177

Summaries for SLC5A5 Gene

Entrez Gene Summary for SLC5A5 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]

GeneCards Summary for SLC5A5 Gene

SLC5A5 (Solute Carrier Family 5 Member 5) is a Protein Coding gene. Diseases associated with SLC5A5 include Thyroid Dyshormonogenesis 1 and Familial Thyroid Dyshormonogenesis. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Amine-derived hormones. GO annotations related to this gene include transporter activity and iodide transmembrane transporter activity. An important paralog of this gene is SLC5A10.

UniProtKB/Swiss-Prot for SLC5A5 Gene

  • Mediates iodide uptake in the thyroid gland.

Gene Wiki entry for SLC5A5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC5A5 Gene

Genomics for SLC5A5 Gene

Regulatory Elements for SLC5A5 Gene

Enhancers for SLC5A5 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SLC5A5 on UCSC Golden Path with GeneCards custom track

Promoters for SLC5A5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC5A5 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC5A5 Gene

Chromosome:
19
Start:
17,871,411 bp from pter
End:
17,895,174 bp from pter
Size:
23,764 bases
Orientation:
Plus strand

Genomic View for SLC5A5 Gene

Genes around SLC5A5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC5A5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC5A5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC5A5 Gene

Proteins for SLC5A5 Gene

  • Protein details for SLC5A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92911-SC5A5_HUMAN
    Recommended name:
    Sodium/iodide cotransporter
    Protein Accession:
    Q92911
    Secondary Accessions:
    • O43702
    • Q2M335
    • Q9NYB6

    Protein attributes for SLC5A5 Gene

    Size:
    643 amino acids
    Molecular mass:
    68666 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC5A5 Gene

Proteomics data for SLC5A5 Gene at MOPED

Post-translational modifications for SLC5A5 Gene

  • Glycosylation at Asn 489 and Asn 502
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC5A5 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SLC5A5 Gene

Domains & Families for SLC5A5 Gene

Gene Families for SLC5A5 Gene

HGNC:
IUPHAR :

Protein Domains for SLC5A5 Gene

Suggested Antigen Peptide Sequences for SLC5A5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92911

UniProtKB/Swiss-Prot:

SC5A5_HUMAN :
  • Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
Family:
  • Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
genes like me logo Genes that share domains with SLC5A5: view

Function for SLC5A5 Gene

Molecular function for SLC5A5 Gene

GENATLAS Biochemistry:
solute carrier family 5 member 5,sodium iodide symporter,expressed in thyroid,breast,colon and ovary,involved in thyroid hormone synthesis and metabolism pathway
UniProtKB/Swiss-Prot Function:
Mediates iodide uptake in the thyroid gland.
genes like me logo Genes that share phenotypes with SLC5A5: view

Human Phenotype Ontology for SLC5A5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC5A5 Gene

Localization for SLC5A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC5A5 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC5A5 Gene COMPARTMENTS Subcellular localization image for SLC5A5 gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 5

Gene Ontology (GO) - Cellular Components for SLC5A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SLC5A5: view

Pathways & Interactions for SLC5A5 Gene

genes like me logo Genes that share pathways with SLC5A5: view

Pathways by source for SLC5A5 Gene

Interacting Proteins for SLC5A5 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000222248%0d%0a9606.ENSP00000264380%0d%0a
Selected Interacting proteins: ENSP00000222248 Q92911-SC5A5_HUMAN for SLC5A5 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for SLC5A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA,TAS 8806637
GO:0015705 iodide transport IEA,IMP 12021185
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC5A5: view

No data available for SIGNOR curated interactions for SLC5A5 Gene

Drugs & Compounds for SLC5A5 Gene

(3) Drugs for SLC5A5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for SLC5A5 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SLC5A5: view

Transcripts for SLC5A5 Gene

mRNA/cDNA for SLC5A5 Gene

(4) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC5A5 Gene

Solute carrier family 5 (sodium iodide symporter), member 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC5A5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15
SP1:
SP2:

Relevant External Links for SLC5A5 Gene

GeneLoc Exon Structure for
SLC5A5
ECgene alternative splicing isoforms for
SLC5A5

Expression for SLC5A5 Gene

mRNA expression in normal human tissues for SLC5A5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC5A5 Gene

This gene is overexpressed in Stomach (x22.6), Cervix - Endocervix (x8.5), Thyroid (x7.6), and Minor Salivary Gland (x5.1).

Protein differential expression in normal tissues from HIPED for SLC5A5 Gene

This gene is overexpressed in Stomach (49.2) and Salivary gland (19.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC5A5 Gene



SOURCE GeneReport for Unigene cluster for SLC5A5 Gene Hs.584804

mRNA Expression by UniProt/SwissProt for SLC5A5 Gene

Q92911-SC5A5_HUMAN
Tissue specificity: Expression is primarily in thyroid tissue, but also to a lower extent in mammary gland and ovary. Expression is reduced in tumors.
genes like me logo Genes that share expression patterns with SLC5A5: view

Protein tissue co-expression partners for SLC5A5 Gene

Primer Products

Orthologs for SLC5A5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC5A5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC5A5 35
  • 85.77 (n)
  • 88.61 (a)
SLC5A5 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC5A5 35
  • 84.84 (n)
  • 85.2 (a)
SLC5A5 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc5a5 35
  • 80.59 (n)
  • 84.34 (a)
Slc5a5 16
Slc5a5 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC5A5 35
  • 99.48 (n)
  • 99.38 (a)
SLC5A5 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc5a5 35
  • 80.15 (n)
  • 84.34 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC5A5 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC5A5 36
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC5A5 35
  • 71.66 (n)
  • 72.98 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 43 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia slc5a5 35
  • 64.54 (n)
  • 69.89 (a)
Str.19489 35
zebrafish
(Danio rerio)
Actinopterygii slc5a5 35
  • 62.08 (n)
  • 63.16 (a)
slc5a5 36
  • 60 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3359 35
fruit fly
(Drosophila melanogaster)
Insecta CG10444 37
  • 38 (a)
CG2187 37
  • 33 (a)
CG2191 37
  • 32 (a)
CG2196 37
  • 33 (a)
CG5687 37
  • 33 (a)
CG6723 37
  • 34 (a)
CG7720 37
  • 31 (a)
CG8451 37
  • 29 (a)
CG8934 37
  • 32 (a)
CG8957 37
  • 34 (a)
CG8966 37
  • 34 (a)
CG9657 37
  • 31 (a)
CG2187 36
  • 29 (a)
ManyToMany
CG31262 36
  • 28 (a)
ManyToMany
CG31668 36
  • 30 (a)
ManyToMany
CG33124 36
  • 28 (a)
ManyToMany
CG42235 36
  • 27 (a)
ManyToMany
CG5687 36
  • 27 (a)
ManyToMany
CG6723 36
  • 32 (a)
ManyToMany
CG7720 36
  • 27 (a)
ManyToMany
CG8451 36
  • 29 (a)
ManyToMany
CG9657 36
  • 31 (a)
ManyToMany
salt 36
  • 30 (a)
ManyToMany
Smvt 36
  • 31 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F52H2.4 37
  • 29 (a)
ZK822.5 37
  • 31 (a)
F52H2.4 36
  • 28 (a)
ManyToMany
ZK822.5 36
  • 28 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
ManyToMany
Species with no ortholog for SLC5A5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC5A5 Gene

ENSEMBL:
Gene Tree for SLC5A5 (if available)
TreeFam:
Gene Tree for SLC5A5 (if available)

Paralogs for SLC5A5 Gene

(3) SIMAP similar genes for SLC5A5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SLC5A5: view

Variants for SLC5A5 Gene

Sequence variations from dbSNP and Humsavar for SLC5A5 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_010263 Thyroid dyshormonogenesis 1 (TDH1)
VAR_010264 -
VAR_010265 Thyroid dyshormonogenesis 1 (TDH1)
VAR_010266 Thyroid dyshormonogenesis 1 (TDH1)
VAR_010267 Thyroid dyshormonogenesis 1 (TDH1)

Structural Variations from Database of Genomic Variants (DGV) for SLC5A5 Gene

Variant ID Type Subtype PubMed ID
nsv911209 CNV Loss 21882294
nsv911214 CNV Loss 21882294
nsv911219 CNV Loss 21882294
dgv3766n71 CNV Loss 21882294
nsv833772 CNV Gain+Loss 17160897
esv2672635 CNV Deletion 23128226

Variation tolerance for SLC5A5 Gene

Residual Variation Intolerance Score: 10.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.00; 36.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC5A5 Gene

Human Gene Mutation Database (HGMD)
SLC5A5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC5A5 Gene

Disorders for SLC5A5 Gene

MalaCards: The human disease database

(11) MalaCards diseases for SLC5A5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
thyroid dyshormonogenesis 1
  • chdh1
familial thyroid dyshormonogenesis
  • thyroid dyshormonogenesis
thyroid hormonogenesis defect i
  • iodide transport defect
congenital hypothyroidism
  • cretinism
goiter
  • goitre
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SC5A5_HUMAN
  • 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 mutations affecting the gene represented in this entry.

Genatlas disease for SLC5A5 Gene

congenital hypothyroidism with goiter,low thyroidal and salivary gland radioiodide uptake

Relevant External Links for SLC5A5

Human Genome Epidemiology (HuGE) Navigator
SLC5A5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC5A5
genes like me logo Genes that share disorders with SLC5A5: view

Publications for SLC5A5 Gene

  1. A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect. (PMID: 10487695) Kosugi S. … Dean H.J. (J. Clin. Endocrinol. Metab. 1999) 3 4 23 67
  2. Genetics and phenomics of hypothyroidism and goiter due to NIS mutations. (PMID: 20153805) Spitzweg C. … Morris J.C. (Mol. Cell. Endocrinol. 2010) 3 23
  3. Congenital hypothyroidism and late-onset goiter: identification and characterization of a novel mutation in the sodium/iodide symporter of the proband and family members. (PMID: 19916865) Montanelli L. … Tonacchera M. (Thyroid 2009) 3 23
  4. Molecular characteristics in papillary thyroid cancers (PTCs) with no 131I uptake. (PMID: 17854396) Mian C. … Girelli M.E. (Clin. Endocrinol. (Oxf) 2008) 3 23
  5. Identification of cyclic adenosine 3',5'-monophosphate response element modulator as an activator of the human sodium/iodide symporter upstream enhancer. (PMID: 18202121) Fenton M.S. … Hershman J.M. (Endocrinology 2008) 3 23

Products for SLC5A5 Gene

Sources for SLC5A5 Gene

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