Introduction of PTH1R
PTH1R (Parathyroid hormone/parathyroid hormone-related peptide receptor), also known as parathyroid hormone 1 receptor, is a protein that in humans is encoded by the PTH1R gene. PTH1R functions as a receptor for parathyroid hormone (PTH) and for parathyroid hormone-related protein (PTHrP), also called parathyroid hormone-like hormone (PTHLH).
|Basic Information of PTH1R|
|Protein Name||Parathyroid hormone/parathyroid hormone-related peptide receptor|
|Aliases||Parathyroid hormone/parathyroid hormone-related peptide receptor, PTH/PTHrP type I receptor, PTH/PTHr receptor, Parathyroid hormone 1 receptor, PTH1 receptor|
|Organism||Homo sapiens (Human)|
Function of PTH1R Membrane Protein
PTH1R is a G protein-coupled receptor that is highly expressed in bone and kidney and mediates in these tissues the PTH-dependent regulation of mineral ion homeostasis. PTH1R also mediates the paracrine actions of PTHrP, which plays a particularly vital role in the process of endochondral bone formation. These important functions, the likely involvement of the PTH1R in certain genetic diseases affecting skeletal development and calcium homeostasis, and the potential utility of PTH in treating osteoporosis have been the driving force behind intense investigations of both the receptor and its peptide ligands. In bone, PTH1R is expressed on the surface of osteoblasts. When the receptor is activated through PTH binding, osteoblasts express RANKL (Receptor Activator of Nuclear Factor kB Ligand), which binds to RANK on osteoclasts. This turns on osteoclasts to ultimately increase the resorption rate.
Fig.1 Structure of PTH1R membrane protein.
Application of PTH1R Membrane Protein in Literature
The article indicates that a detailed exploration of the receptor-ligand interaction process is currently being pursued through the use of site-directed mutagenesis and photoaffinity cross-linking methods. Ultimately, such work could enable the development of novel PTH receptor ligands that have therapeutic value in treating diseases such as osteoporosis and certain forms of hypercalcemia.
The article reconstitutes the signal transduction of the PTH/PTHrP and the calcitonin receptor in COS-7 and HEK293 cells.
The article indicates that PTH1R mutations affect intracellular PTH-regulated signaling in vitro. In patients with primary failure of tooth eruption defective signaling of PTH1R mutations is suggested to occur in dento-alveolar cells and thus may lead to impaired tooth movement.
This article reports the primary failure of eruption caused by a homozygous mutation in PTH1R. The article findings prove the application of WES as an efficient molecular diagnostics tool for this rare phenotype and further broaden the clinical spectrum of PTH1R pathogenicity.
The article demonstrates that PTH1R would provide insights into how phosphorylation at specific sites regulates cell signaling responses and also open the possibility of developing therapeutic agents that could target specific receptor functions.
PTH1R Preparation Options
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