Thyrotropin receptor

TSHR
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTSHR, CHNG1, LGR3, hTSHR-I, thyroid stimulating hormone receptor, Thyrotropin receptor
External IDsOMIM: 603372 MGI: 98849 HomoloGene: 315 GeneCards: TSHR
Gene location (Human)
Chr.Chromosome 14 (human)[1]
BandNo data availableStart80,954,989 bp[1]
End81,146,302 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

7253

22095

Ensembl

ENSG00000165409

ENSMUSG00000020963

UniProt

P16473

P47750

RefSeq (mRNA)

NM_000369
NM_001018036
NM_001142626

NM_001113404
NM_011648

RefSeq (protein)

NP_000360
NP_001018046
NP_001136098

NP_001106875
NP_035778

Location (UCSC)Chr 14: 80.95 – 81.15 MbChr 14: 91.38 – 91.55 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The thyrotropin receptor (or TSH receptor) is a receptor (and associated protein) that responds to thyroid-stimulating hormone (also known as "thyrotropin") and stimulates the production of thyroxine (T4) and triiodothyronine (T3). The TSH receptor is a member of the G protein-coupled receptor superfamily of integral membrane proteins[5] and is coupled to the Gs protein.[6]

It is primarily found on the surface of the thyroid epithelial cells, but also found on adipose tissue and fibroblasts. The latter explains the reason of the myxedema finding during Graves disease.

Function

Upon binding circulating thyrotropin, a G-protein signal cascade activates adenylyl cyclase and intercellular levels of cAMP rise. cAMP activates all functional aspects of the thyroid cell, including iodine pumping; thyroglobulin synthesis, iodination, endocytosis and proteolysis; thyroid peroxidase activity; and hormone release.

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000165409 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020963 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ Farid NR, Szkudlinski MW (Sep 2004). "Minireview: structural and functional evolution of the thyrotropin receptor". Endocrinology. 145 (9): 4048–57. PMID 15231707. doi:10.1210/en.2004-0437.
  6. ↑ Calebiro D, Nikolaev VO, Lohse MJ (Jul 2010). "Imaging of persistent cAMP signaling by internalized G protein-coupled receptors". Journal of Molecular Endocrinology. 45 (1): 1–8. PMID 20378719. doi:10.1677/JME-10-0014.

Further reading

  • Führer D, Wonerow P, Willgerodt H, Paschke R (Dec 1997). "Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism". The Journal of Clinical Endocrinology and Metabolism. 82 (12): 4234–8. PMID 9398746. doi:10.1210/jc.82.12.4234. 
  • Farid NR, Kascur V, Balazs C (Jul 2000). "The human thyrotropin receptor is highly mutable: a review of gain-of-function mutations". European Journal of Endocrinology / European Federation of Endocrine Societies. 143 (1): 25–30. PMID 10870027. doi:10.1530/eje.0.1430025. 
  • Szkudlinski MW, Fremont V, Ronin C, Weintraub BD (Apr 2002). "Thyroid-stimulating hormone and thyroid-stimulating hormone receptor structure-function relationships". Physiological Reviews. 82 (2): 473–502. PMID 11917095. doi:10.1152/physrev.00031.2001. 
  • Tonacchera M, Vitti P, De Servi M, Agretti P, De Marco G, Chiovato L, Pinchera A (2004). "Gain of function TSH receptor mutations and iodine deficiency: implications in iodine prophylaxis". Journal of Endocrinological Investigation. 26 (2 Suppl): 2–6. PMID 12762632. 
  • Arturi F, Scarpelli D, Coco A, Sacco R, Bruno R, Filetti S, Russo D (Apr 2003). "Thyrotropin receptor mutations and thyroid hyperfunctioning adenomas ten years after their first discovery: unresolved questions". Thyroid. 13 (4): 341–3. PMID 12804102. doi:10.1089/105072503321669811. 
  • Vaidya B, Campbell V, Tripp JH, Spyer G, Hattersley AT, Ellard S (Jun 2004). "Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation". Clinical Endocrinology. 60 (6): 711–8. PMID 15163335. doi:10.1111/j.1365-2265.2004.02040.x. 
  • Takeshita A, Nagayama Y, Fujiyama K, Yokoyama N, Namba H, Yamashita S, Izumi M, Nagataki S (Nov 1992). "Molecular cloning and sequencing of an alternatively spliced form of the human thyrotropin receptor transcript". Biochemical and Biophysical Research Communications. 188 (3): 1214–9. PMID 1445355. doi:10.1016/0006-291X(92)91360-3. 
  • Graves PN, Tomer Y, Davies TF (Sep 1992). "Cloning and sequencing of a 1.3 KB variant of human thyrotropin receptor mRNA lacking the transmembrane domain". Biochemical and Biophysical Research Communications. 187 (2): 1135–43. PMID 1530609. doi:10.1016/0006-291X(92)91315-H. 
  • Loosfelt H, Pichon C, Jolivet A, Misrahi M, Caillou B, Jamous M, Vannier B, Milgrom E (May 1992). "Two-subunit structure of the human thyrotropin receptor". Proceedings of the National Academy of Sciences of the United States of America. 89 (9): 3765–9. PMC 525571 Freely accessible. PMID 1570295. doi:10.1073/pnas.89.9.3765. 
  • Nagayama Y, Russo D, Wadsworth HL, Chazenbalk GD, Rapoport B (Aug 1991). "Eleven amino acids (Lys-201 to Lys-211) and 9 amino acids (Gly-222 to Leu-230) in the human thyrotropin receptor are involved in ligand binding". The Journal of Biological Chemistry. 266 (23): 14926–30. PMID 1651314. 
  • Murakami M, Mori M (Aug 1990). "Identification of immunogenic regions in human thyrotropin receptor for immunoglobulin G of patients with Graves' disease". Biochemical and Biophysical Research Communications. 171 (1): 512–8. PMID 1697467. doi:10.1016/0006-291X(90)91423-P. 
  • Heldin NE, Gustavsson B, Westermark K, Westermark B (Dec 1991). "A somatic point mutation in a putative ligand binding domain of the TSH receptor in a patient with autoimmune hyperthyroidism". The Journal of Clinical Endocrinology and Metabolism. 73 (6): 1374–6. PMID 1955520. doi:10.1210/jcem-73-6-1374. 
  • Libert F, Passage E, Lefort A, Vassart G, Mattei MG (1991). "Localization of human thyrotropin receptor gene to chromosome region 14q3 by in situ hybridization". Cytogenetics and Cell Genetics. 54 (1-2): 82–3. PMID 2249482. doi:10.1159/000132964. 
  • Frazier AL, Robbins LS, Stork PJ, Sprengel R, Segaloff DL, Cone RD (Aug 1990). "Isolation of TSH and LH/CG receptor cDNAs from human thyroid: regulation by tissue specific splicing". Molecular Endocrinology. 4 (8): 1264–76. PMID 2293030. doi:10.1210/mend-4-8-1264. 
  • Misrahi M, Loosfelt H, Atger M, Sar S, Guiochon-Mantel A, Milgrom E (Jan 1990). "Cloning, sequencing and expression of human TSH receptor". Biochemical and Biophysical Research Communications. 166 (1): 394–403. PMID 2302212. doi:10.1016/0006-291X(90)91958-U. 
  • Nagayama Y, Kaufman KD, Seto P, Rapoport B (Dec 1989). "Molecular cloning, sequence and functional expression of the cDNA for the human thyrotropin receptor". Biochemical and Biophysical Research Communications. 165 (3): 1184–90. PMID 2558651. doi:10.1016/0006-291X(89)92727-7. 
  • Libert F, Lefort A, Gerard C, Parmentier M, Perret J, Ludgate M, Dumont JE, Vassart G (Dec 1989). "Cloning, sequencing and expression of the human thyrotropin (TSH) receptor: evidence for binding of autoantibodies". Biochemical and Biophysical Research Communications. 165 (3): 1250–5. PMID 2610690. doi:10.1016/0006-291X(89)92736-8. 
  • Cuddihy RM, Bryant WP, Bahn RS (Aug 1995). "Normal function in vivo of a homozygotic polymorphism in the human thyrotropin receptor". Thyroid. 5 (4): 255–7. PMID 7488864. doi:10.1089/thy.1995.5.255. 
  • Bahn RS, Dutton CM, Heufelder AE, Sarkar G (Feb 1994). "A genomic point mutation in the extracellular domain of the thyrotropin receptor in patients with Graves' ophthalmopathy". The Journal of Clinical Endocrinology and Metabolism. 78 (2): 256–60. PMID 7508946. doi:10.1210/jc.78.2.256. 
  • Sunthornthepvarakui T, Gottschalk ME, Hayashi Y, Refetoff S (Jan 1995). "Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene". The New England Journal of Medicine. 332 (3): 155–60. PMID 7528344. doi:10.1056/NEJM199501193320305. 


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