NP_000307.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
66,361 Da
NCBI Official Full Name
parathyroid hormone/parathyroid hormone-related peptide receptor
NCBI Official Synonym Full Names
parathyroid hormone 1 receptor
NCBI Protein Information
parathyroid hormone/parathyroid hormone-related peptide receptor; PTH1 receptor; PTH/PTHr receptor; PTH/PTHrP type I receptor; parathyroid hormone receptor 1; seven transmembrane helix receptor; parathyroid hormone/parathyroid hormone-related protein receptor
UniProt Protein Name
Parathyroid hormone/parathyroid hormone-related peptide receptor
UniProt Synonym Protein Names
PTH/PTHrP type I receptor; PTH/PTHr receptor; Parathyroid hormone 1 receptor
UniProt Synonym Gene Names
UniProt Entry Name
PTH1R_HUMAN
NCBI Summary for PTHR1
The protein encoded by this gene 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. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
UniProt Comments for PTHR1
PTHR: This is a 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. Defects in PTH1R are the cause of Jansen metaphyseal chondrodysplasia (JMC). JMC is 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. Defects in PTH1R are the cause of chondrodysplasia Blomstrand type (BOCD). BOCD is a severe skeletal dysplasia. Defects in PTH1R may be a cause of enchondromatosis multiple (ENCHOM). Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis (Ollier and Maffucci diseases). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma. Defects in PTH1R are the cause of Eiken skeletal dysplasia (EISD); also known as bone modeling defect of hands and feet. It is a rare familial autosomal recessive skeletal dysplasia. It is characterized by multiple epiphyseal dysplasia, with extremely 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. Defects in PTH1R are a cause of primary failure of tooth eruption (PFE). PFE is a 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. Belongs to the G-protein coupled receptor 2 family.
Protein type: GPCR, family 2; Membrane protein, multi-pass; Membrane protein, integral; Receptor, GPCR
Chromosomal Location of Human Ortholog: 3p22-p21.1
Cellular Component: brush border membrane; integral to plasma membrane; basolateral plasma membrane; apical plasma membrane; cytoplasm; plasma membrane; nucleus; receptor complex
Molecular Function: protein binding; protein self-association; peptide hormone binding; parathyroid hormone receptor activity
Biological Process: cell maturation; G-protein signaling, adenylate cyclase activating pathway; bone mineralization; osteoblast development; G-protein signaling, coupled to cAMP nucleotide second messenger; G-protein coupled receptor protein signaling pathway; negative regulation of cell proliferation; G-protein signaling, coupled to cyclic nucleotide second messenger; elevation of cytosolic calcium ion concentration; positive regulation of cell proliferation; chondrocyte differentiation; G-protein signaling, coupled to IP3 second messenger (phospholipase C activating); skeletal development; aging; bone resorption
Disease: Eiken Syndrome; Chondrodysplasia, Blomstrand Type; Failure Of Tooth Eruption, Primary; Metaphyseal Chondrodysplasia, Jansen Type
Research Articles on PTHR1
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Products associated with PTHR1 elisa kit
Pathways associated with PTHR1 elisa kit
Diseases associated with PTHR1 elisa kit
Organs/Tissues associated with PTHR1 elisa kit
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