• Gene id: 6528

Gene Summary

• Gene Symbol: SLC5A5   Gene   UCSC   Ensembl
• Aliases: NIS, TDH1
• Gene name: solute carrier family 5 member 5
• Alternate names: sodium/iodide cotransporter, Na(+)/I(-) cotransporter, Na(+)/I(-) symporter, solute carrier family 5 (sodium iodide symporter), member 5, solute carrier family 5 (sodium/iodide cotransporter), member 5,
• Gene location: 19p13.11 (17871393: 17895174)     Exons: 16     NC_000019.10
• Gene summary(Entrez): 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 meta
• OMIM: 126455

Protein Summary

• Protein general information: Q92911  
  • Name: Sodium/iodide cotransporter (Na(+)/I( ) cotransporter) (Sodium iodide symporter) (Na(+)/I( ) symporter) (Solute carrier family 5 member 5)
  • Length: 643  
  • Mass: 68666
  • Tissue specificity: Expression is primarily in thyroid tissue, but also to a lower extent in mammary gland and ovary. Expression is reduced in tumors. {ECO
• Sequence:

  MEAVETGERPTFGAWDYGVFALMLLVSTGIGLWVGLARGGQRSAEDFFTGGRRLAALPVGLSLSASFMSAVQVLG
  VPSEAYRYGLKFLWMCLGQLLNSVLTALLFMPVFYRLGLTSTYEYLEMRFSRAVRLCGTLQYIVATMLYTGIVIY
  APALILNQVTGLDIWASLLSTGIICTFYTAVGGMKAVVWTDVFQVVVMLSGFWVVLARGVMLVGGPRQVLTLAQN
  HSRINLMDFNPDPRSRYTFWTFVVGGTLVWLSMYGVNQAQVQRYVACRTEKQAKLALLINQVGLFLIVSSAACCG
  IVMFVFYTDCDPLLLGRISAPDQYMPLLVLDIFEDLPGVPGLFLACAYSGTLSTASTSINAMAAVTVEDLIKPRL
  RSLAPRKLVIISKGLSLIYGSACLTVAALSSLLGGGVLQGSFTVMGVISGPLLGAFILGMFLPACNTPGVLAGLG
  AGLALSLWVALGATLYPPSEQTMRVLPSSAARCVALSVNASGLLDPALLPANDSSRAPSSGMDASRPALADSFYA
  ISYLYYGALGTLTTVLCGALISCLTGPTKRSTLAPGLLWWDLARQTASVAPKEEVAILDDNLVKGPEELPTGNKK
  PPGFLPTNEDRLFFLGQKELEGAGSWTPCVGHDGGRDQQETNL

• Structural information:
  • Interpro: IPR038377  IPR001734  IPR018212  IPR035689  
  • Prosite: PS00456 PS50283
  • CDD: cd11503
  • STRING: ENSP00000222248
• Other Databases: GeneCards:  SLC5A5  Malacards:  SLC5A5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015111	iodide transmembrane transporter activity	IDA	molecular function
GO:0015111	iodide transmembrane transporter activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	is active in
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IC	cellular component
GO:0005886	plasma membrane	IC	is active in
GO:0005886	plasma membrane	IC	is active in
GO:0015111	iodide transmembrane transporter activity	ISS	molecular function
GO:0015111	iodide transmembrane transporter activity	IMP	molecular function
GO:1904200	iodide transmembrane transport	IDA	biological process
GO:1904200	iodide transmembrane transport	IDA	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0005886	plasma membrane	ISS	is active in
GO:1904200	iodide transmembrane transport	ISS	biological process
GO:1904200	iodide transmembrane transport	IMP	biological process
GO:0006814	sodium ion transport	IBA	biological process
GO:0008507	sodium:iodide symporter activity	IBA	molecular function
GO:1904200	iodide transmembrane transport	IBA	biological process
GO:0015111	iodide transmembrane transporter activity	IBA	molecular function
GO:0015293	symporter activity	IBA	molecular function
GO:0008507	sodium:iodide symporter activity	IEA	molecular function
GO:0015705	iodide transport	IEA	biological process
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0006590	thyroid hormone generation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0015111	iodide transmembrane transporter activity	TAS	molecular function
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006590	thyroid hormone generation	TAS	biological process
GO:0006811	ion transport	TAS	biological process
GO:0015111	iodide transmembrane transporter activity	TAS	molecular function
GO:0008507	sodium:iodide symporter activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0015111	iodide transmembrane transporter activity	IMP	molecular function
GO:1903561	extracellular vesicle	HDA	cellular component
GO:0015705	iodide transport	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0071371	cellular response to gonadotropin stimulus	IEP	biological process
GO:0071320	cellular response to cAMP	IEP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04918	Thyroid hormone synthesis

Diseases

Associated diseases	References
Thyroid dyshormonogenesis	KEGG:H00251
Thyroid dyshormonogenesis	KEGG:H00251
Congenital hypothyroidism	PMID:9171822
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq