PTH1R

PTH1R is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis.

parathyroid hormone 1 receptor

Receptor for parathyroid hormone and for parathyroid hormone-related peptide. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system.

Adenylate cyclase-activating G protein-coupled receptor signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Adenylate cyclase-modulating G protein-coupled receptor signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Bone mineralizationIEA:Ensembl
Bone resorptionIEA:Ensembl
Cell maturationIEA:Ensembl
Cell population proliferationIEA:Ensembl
Cell surface receptor signaling pathwayIEA:InterPro
Cellular calcium ion homeostasisManual Assertion Based On ExperimentIBA:GO_Central
Chondrocyte differentiationIEA:Ensembl
G protein-coupled receptor signaling pathwayManual Assertion Based On ExperimentTAS:ProtInc
G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messengerManual Assertion Based On ExperimentTAS:ProtInc
In utero embryonic developmentIEA:Ensembl
Negative regulation of cell population proliferationIEA:Ensembl
Osteoblast developmentIEA:Ensembl
Phospholipase C-activating G protein-coupled receptor signaling pathway1 PublicationIC:BHF-UCL
Positive regulation of cell population proliferationIEA:Ensembl
Positive regulation of inositol phosphate biosynthetic processISS:BHF-UCL
Skeletal system developmentManual Assertion Based On ExperimentTAS:ProtInc

Cell membrane

Metaphyseal chondrodysplasia, Jansen type (MCDJ):
A rare autosomal dominant disorder characterized by a short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two parathyroid hormones.
Chondrodysplasia Blomstrand type (BOCD):
Severe skeletal dysplasia.
Eiken syndrome (EKNS):
An autosomal recessive skeletal dysplasia characterized by severely retarded ossification, principally of the epiphyses, pelvis, hands and feet, as well as by abnormal modeling of the bones in hands and feet, abnormal persistence of cartilage in the pelvis and mild growth retardation.
Primary failure of tooth eruption (PFE):
Rare condition that has high penetrance and variable expressivity and in which tooth retention occurs without evidence of any obvious mechanical interference. Instead, malfunction of the eruptive mechanism itself appears to cause nonankylosed permanent teeth to fail to erupt, although the eruption pathway has been cleared by bone resorption.

Extracellular: 27-188
Helical: 189-212
Cytoplasmic: 213-219
Helical: 220-239
Extracellular: 240-282
Helical: 283-306
Cytoplasmic: 307-320
Helical: 321-342
Extracellular: 343-361
Helical: 362-382
Cytoplasmic: 383-409
Helical: 410-428
Extracellular: 429-440
Helical: 441-463
Cytoplasmic: 464-593

N-glycosylated.