TSHR
The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene.
Full Name
thyroid stimulating hormone receptor
Function
Receptor for the thyroid-stimulating hormone (TSH) or thyrotropin (PubMed:11847099, PubMed:12045258).
Also acts as a receptor for the heterodimeric glycoprotein hormone (GPHA2:GPHB5) or thyrostimulin (PubMed:12045258).
The activity of this receptor is mediated by G proteins which activate adenylate cyclase (PubMed:11847099).
Plays a central role in controlling thyroid cell metabolism (By similarity).
Biological Process
Biological Process activation of adenylate cyclase activity Source:GO_Central1 Publication
Biological Process adenylate cyclase-activating G protein-coupled receptor signaling pathway Source:UniProtKB1 Publication
Biological Process cell surface receptor signaling pathway Source:UniProtKB1 Publication
Biological Process cell-cell signaling Source:ProtInc1 Publication
Biological Process cellular response to glycoprotein Source:UniProtKB1 Publication
Biological Process cellular response to thyrotropin-releasing hormone Source:UniProtKB1 Publication
Biological Process G protein-coupled receptor signaling pathway Source:ProtInc1 Publication
Biological Process G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger Source:ProtInc1 Publication
Biological Process hormone-mediated signaling pathway Source:GO_Central1 Publication
Biological Process positive regulation of cell population proliferation Source:ProtInc1 Publication
Biological Process positive regulation of cold-induced thermogenesis Source:YuBioLabBy Similarity
Biological Process thyroid-stimulating hormone signaling pathway Source:UniProtKB1 Publication
Cellular Location
Cell membrane
Basolateral cell membrane
Involvement in disease
Hypothyroidism, congenital, non-goitrous, 1 (CHNG1):
A non-autoimmune condition characterized by resistance to thyroid-stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. It presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland.
Familial gestational hyperthyroidism (HTFG):
A condition characterized by abnormally high levels of serum thyroid hormones occurring during early pregnancy.
Hyperthyroidism, non-autoimmune (HTNA):
A condition characterized by abnormally high levels of serum thyroid hormones, thyroid hyperplasia, goiter and lack of anti-thyroid antibodies. Typical features of Graves disease such as exophthalmia, myxedema, antibodies anti-TSH receptor and lymphocytic infiltration of the thyroid gland are absent.
Topology
Extracellular: 21-413
Helical: 414-441
Cytoplasmic: 442-450
Helical: 451-473
Extracellular: 474-494
Helical: 495-517
Cytoplasmic: 518-537
Helical: 538-560
Extracellular: 538-560
Helical: 581-602
Cytoplasmic: 603-625
Helical: 626-649
Extracellular: 650-660
Helical: 661-682
Cytoplasmic: 683-764
PTM
Glycosylated.
Sulfated. Sulfation on Tyr-385 plays a role in thyrotropin receptor binding and activation.