Parathyroid hormone 1 receptor

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).

PTH1R
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1BL1, 3C4M, 3H3G, 3L2J, 4Z8J
Identifiers
Aliases	PTH1R, PFE, PTHR, PTHR1, Parathyroid hormone 1 receptor, EKNS
External IDs	OMIM: 168468; MGI: 97801; HomoloGene: 267; GeneCards: PTH1R; OMA:PTH1R - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p21.31 Start 46,877,721 bp[1] End 46,903,799 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9 F2|9 60.56 cM Start 110,722,085 bp[2] End 110,747,145 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibia human kidney right adrenal cortex right lobe of liver periodontal fiber metanephric glomerulus left adrenal cortex right lung kidney tubule apex of heart Top expressed in right kidney proximal tubule human kidney body of femur calvaria clavicle dermis internal carotid artery membranous bone ankle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function G protein-coupled receptor activity parathyroid hormone receptor activity signal transducer activity protein self-association peptide hormone binding protein binding transmembrane signaling receptor activity protein homodimerization activity G protein-coupled peptide receptor activity Cellular component cytoplasm integral component of membrane membrane receptor complex plasma membrane intracellular anatomical structure brush border membrane basolateral plasma membrane apical plasma membrane nucleus integral component of plasma membrane Biological process skeletal system development G protein-coupled receptor signaling pathway bone mineralization chondrocyte differentiation ossification positive regulation of inositol phosphate biosynthetic process adenylate cyclase-modulating G protein-coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger ageing cellular calcium ion homeostasis cell maturation bone resorption phospholipase C-activating G protein-coupled receptor signaling pathway cell surface receptor signaling pathway positive regulation of cell population proliferation osteoblast development signal transduction negative regulation of cell population proliferation adenylate cyclase-activating G protein-coupled receptor signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5745 19228 Ensembl ENSG00000160801 ENSMUSG00000032492 UniProt Q03431 P41593 RefSeq (mRNA) NM_000316 NM_001184744 NM_001083935 NM_001083936 NM_011199 RefSeq (protein) NP_000307 NP_001171673 NP_001077404 NP_001077405 NP_035329 Location (UCSC) Chr 3: 46.88 – 46.9 Mb Chr 9: 110.72 – 110.75 Mb PubMed search [3] [4]
Wikidata
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Function

This "classical" PTH receptor is expressed in high levels in bone and kidney and regulates calcium ion homeostasis through activation of adenylate cyclase and phospholipase C.^[5][6] In bone, it 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 (Receptor Activator of Nuclear Factor kB) on osteoclasts. This turns on osteoclasts to ultimately increase the resorption rate.

Mechanism

It is a member of the secretin family of G protein-coupled receptors. The activity of this receptor is mediated by G_s protein, which activates adenylyl cyclase. Besides this, they also activate the phosphatidylinositol-calcium second messenger system.

Pathology

Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC) and chondrodysplasia Blomstrand type (BOCD) as well as enchondromatosis^[7] and primary failure of tooth eruption.^[8]

Interactions

Parathyroid hormone 1 receptor has been shown to interact with Sodium-hydrogen exchange regulatory cofactor 2^[9] and Sodium-hydrogen antiporter 3 regulator 1.^[9]

See also

• Parathyroid hormone receptor