Parathyroid hormone receptor 1
Encyclopedia
Parathyroid hormone/parathyroid hormone-related peptide receptor also known as parathyroid hormone 1 receptor (PTH1R) 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).
and kidney
and regulates calcium
ion
homeostasis
through activation of adenylate cyclase and phospholipase C
.
In bone, it is expressed on the surface of osteoblasts. When the receptor is activated, these cells in turn stimulate osteoclasts to ultimately increase the resorption rate.
of G protein-coupled receptor
s. The activity of this receptor is mediated by Gs G proteins which activate adenylyl cyclase. Besides, they also activate phosphatidylinositol
-calcium
second messenger system.
(JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchondromatosis
and primary failure of tooth eruption.
with Sodium-hydrogen exchange regulatory cofactor 2
and Sodium-hydrogen antiporter 3 regulator 1
.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the PTH1R gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
. PTH1R functions as a receptor
Parathyroid hormone receptor
There are two known parathyroid hormone receptors in mammals termed PTH1R and PTH2R. These receptors bind parathyroid hormone and are members of the GPCR family of transmembrane proteins....
for parathyroid hormone (PTH
Parathyroid hormone
Parathyroid hormone , parathormone or parathyrin, is secreted by the chief cells of the parathyroid glands as a polypeptide containing 84 amino acids...
) and for parathyroid hormone-related protein (PTHrP
Parathyroid hormone-related protein
Parathyroid hormone-related protein is a protein member of the parathyroid hormone family. It is occasionally secreted by cancer cells . However, it also has normal functions.- Function :PTHrP acts as an endocrine, autocrine, paracrine, and intracrine hormone...
), also called parathyroid hormone-like hormone (PTHLH).
Function
This "classical" PTH receptor is expressed in high levels in boneBone
Bones are rigid organs that constitute part of the endoskeleton of vertebrates. They support, and protect the various organs of the body, produce red and white blood cells and store minerals. Bone tissue is a type of dense connective tissue...
and kidney
Kidney
The kidneys, organs with several functions, serve essential regulatory roles in most animals, including vertebrates and some invertebrates. They are essential in the urinary system and also serve homeostatic functions such as the regulation of electrolytes, maintenance of acid–base balance, and...
and regulates calcium
Calcium
Calcium is the chemical element with the symbol Ca and atomic number 20. It has an atomic mass of 40.078 amu. Calcium is a soft gray alkaline earth metal, and is the fifth-most-abundant element by mass in the Earth's crust...
ion
Ion
An ion is an atom or molecule in which the total number of electrons is not equal to the total number of protons, giving it a net positive or negative electrical charge. The name was given by physicist Michael Faraday for the substances that allow a current to pass between electrodes in a...
homeostasis
Homeostasis
Homeostasis is the property of a system that regulates its internal environment and tends to maintain a stable, constant condition of properties like temperature or pH...
through activation of adenylate cyclase and phospholipase C
Phospholipase C
Phosphoinositide phospholipase C is a family of eukaryotic intracellular enzymes that play an important role in signal transduction processes. In general, this enzyme is denoted as Phospholipase C, although three other families of phospholipase C enzymes have been identified in bacteria and in...
.
In bone, it is expressed on the surface of osteoblasts. When the receptor is activated, these cells in turn stimulate osteoclasts to ultimately increase the resorption rate.
Mechanism
It is a member of the secretin familySecretin receptor family
Secretin family of 7 transmembrane receptors is a family of evolutionarily related proteins.This family is known as Family B, the secretin-receptor family or family 2 of the G-protein-coupled receptors...
of G protein-coupled receptor
G protein-coupled receptor
G protein-coupled receptors , also known as seven-transmembrane domain receptors, 7TM receptors, heptahelical receptors, serpentine receptor, and G protein-linked receptors , comprise a large protein family of transmembrane receptors that sense molecules outside the cell and activate inside signal...
s. The activity of this receptor is mediated by Gs G proteins which activate adenylyl cyclase. Besides, they also activate phosphatidylinositol
Phosphatidylinositol
Phosphatidylinositol is a negatively charged phospholipid and a minor component in the cytosolic side of eukaryotic cell membranes....
-calcium
Calcium
Calcium is the chemical element with the symbol Ca and atomic number 20. It has an atomic mass of 40.078 amu. Calcium is a soft gray alkaline earth metal, and is the fifth-most-abundant element by mass in the Earth's crust...
second messenger system.
Pathology
Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasiaJansen's metaphyseal chondrodysplasia
Jansen's metaphyseal chondrodysplasia or JMC is a disease that results from ligand-independent activation of the type 1 of the parathyroid hormone receptor , due to one of three reported mutations ....
(JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchondromatosis
Enchondromatosis
Enchondromatosis is a form of osteochondrodysplasia characterized by a proliferation of enchondromas.Ollier disease can be considered a synonym for enchondromatosis. Maffucci syndrome is enchondromatosis with hemangiomatosis.-References:...
and primary failure of tooth eruption.
Interactions
Parathyroid hormone 1 receptor has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with Sodium-hydrogen exchange regulatory cofactor 2
Sodium-hydrogen exchange regulatory cofactor 2
Sodium-hydrogen exchange regulatory cofactor NHE-RF2 also known as tyrosine kinase activator protein 1 or SRY-interacting protein 1 is a protein that in humans is encoded by the SLC9A3R2 gene.NHERF-2) is a scaffold protein that connects plasma membrane proteins with members of the...
and Sodium-hydrogen antiporter 3 regulator 1
Sodium-hydrogen antiporter 3 regulator 1
Sodium-hydrogen antiporter 3 regulator 1 is a regulator of Sodium-hydrogen antiporter 3. It is encoded by the gene SLC9A3R1. It is also known as ERM Binding Protein 50 or Na+/H+ Exchanger Regulatory Factor...
.