thyrotropin receptor; thyroid-stimulating hormone receptor; TSH-R (TSHR LGR3)
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Function
- receptor for thyrotropin (TSH)
- role in controlling thyroid cell metabolism
- activity is mediated by G proteins which activate adenylate cyclase
- also acts as a receptor for thyrostimulin (GPA2+GPB5)
Structure
- belongs to the G-protein coupled receptor 1 family FSH/LSH/TSH subfamily
- contains 6 LRR repeats (leucine-rich repeats)
Compartment
Alternative splicing
named isoforms=2
Additional isoforms seem to exist
Pathology
- defects in TSHR are the cause of
- congenital hypothyroidism non-goitrous type 1
- hyperthyroidism
- autosomal dominant non-autoimmune hyperthyroidism
- sporadic congenital hyperthyroidism
- hyperthyroidism associated with autonomously functioning thyroid nodules
- toxic multinodular goiter
- hyperfunctioning thyroid adenomas
- familial gestational hyperthyroidism
- thyroid neoplasms
- autoantibodies directed against the TSH receptor result in hyperthyroidism of Graves disease
Polymorphism
- the Asp727Glu polymorphism is associated with Graves disease in a Russian population. Th
- the Glu727 allele & the heterozygous Asp727Glu genotype are related to higher risk of Graves disease
- the Asp727Glu polymorphism significantly ameliorates Gs-alpha activation in the presence of the gain-of-function mutation Ala593Asn although it is functionally inert in the context of the wild-type TSHR
More general terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P16473.html
- ↑ TSH receptor database http://innere.uniklinikum-leipzig.de/tsh/
- ↑ GRIS; Note: glycoprotein-hormone receptors information system http://gris.ulb.ac.be/
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=TSHR
- ↑ SHMPD; The Singapore human mutation and polymorphism database http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=TSHR
- ↑ Wikipedia; Note: TSH receptor entry http://en.wikipedia.org/wiki/TSH_receptor
Database
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:7253
- OMIM: https://mirror.omim.org/entry/275000
- OMIM: https://mirror.omim.org/entry/275200
- OMIM: https://mirror.omim.org/entry/603372
- OMIM: https://mirror.omim.org/entry/603373
- OMIM: https://mirror.omim.org/entry/609152
- UniProt: http://www.uniprot.org/uniprot/P16473.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7253