Parathyroid Hormone Receptor 1 (PTHR1)

PTH1R; Parathyroid hormone/parathyroid hormone-related peptide receptor; PTH/PTHrP type I receptor

SPN	U114
HGNC	9608
MGI	97801
PubMed	19061984
RGD	3442
UniProt	Q03431
Wiki	PTHR1

Parathyroid hormone receptor 1 functions as a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH).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. 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.It is a member of the secretin family of G protein-coupled receptors. The activity of this receptor is mediated by G_s G proteins which activate adenylyl cyclase. Besides, they also activate phosphatidylinositol-calcium second messenger system.Expressed in most tissues. Most abundant in kidney, bone and liver.

Reference

"Identical complementary deoxyribonucleic acids encode a human renal and bone parathyroid hormone (PTH)/PTH-related peptide receptor."
Endocrinology 132:2157-2165(1993) [PubMed] [Europe PMC] [Abstract]

"Cloning and functional expression of a human parathyroid hormone receptor."
Eur. J. Pharmacol. 246:149-155(1993) [PubMed] [Europe PMC] [Abstract]

"Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene."
J. Clin. Endocrinol. Metab. 80:1611-1621(1995) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"The N-terminal fragment of human parathyroid hormone receptor 1 constitutes a hormone binding domain and reveals a distinct disulfide pattern."
Biochemistry 39:8878-8887(2000) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Binding domain of human parathyroid hormone receptor: from conformation to function."
Biochemistry 37:12737-12743(1998) [PubMed] [Europe PMC] [Abstract]

"Molecular recognition of parathyroid hormone by its G protein-coupled receptor."
Proc. Natl. Acad. Sci. U.S.A. 105:5034-5039(2008) [PubMed] [Europe PMC] [Abstract]

"Structure of the parathyroid hormone receptor C terminus bound to the G-protein dimer Gbeta1gamma2."
Structure 16:1086-1094(2008) [PubMed] [Europe PMC] [Abstract]

"Structural basis for parathyroid hormone-related protein binding to the parathyroid hormone receptor and design of conformation-selective peptides."
J. Biol. Chem. 284:28382-28391(2009) [PubMed] [Europe PMC] [Abstract]

"Dimeric arrangement of the parathyroid hormone receptor and a structural mechanism for ligand-induced dissociation."
J. Biol. Chem. 285:12435-12444(2010) [PubMed] [Europe PMC] [Abstract]

"A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia."
Science 268:98-100(1995) [PubMed] [Europe PMC] [Abstract]

"Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia."
N. Engl. J. Med. 335:708-714(1996) [PubMed] [Europe PMC] [Abstract]

"Constitutive activation of the cyclic adenosine 3',5'-monophosphate signaling pathway by parathyroid hormone (PTH)/PTH-related peptide receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia."
Mol. Endocrinol. 11:851-858(1997) [PubMed] [Europe PMC] [Abstract]

"A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia."
J. Clin. Endocrinol. Metab. 83:3365-3368(1998) [PubMed] [Europe PMC] [Abstract]

"A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia."
J. Clin. Endocrinol. Metab. 84:3052-3057(1999) [PubMed] [Europe PMC] [Abstract]

"A mutant PTH/PTHrP type I receptor in enchondromatosis."
Nat. Genet. 30:306-310(2002) [PubMed] [Europe PMC] [Abstract]

"Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C."
Hum. Mutat. 24:466-473(2004) [PubMed] [Europe PMC] [Abstract]

"A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation."
J. Clin. Endocrinol. Metab. 89:3595-3600(2004) [PubMed] [Europe PMC] [Abstract]

"Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes."
Hum. Mol. Genet. 14:1-5(2005) [PubMed] [Europe PMC] [Abstract]

"PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption."
Am. J. Hum. Genet. 83:781-786(2008) [PubMed] [Europe PMC] [Abstract]