NP_001171673.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
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 PTH1R
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 PTH1R
Function: 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. Ref.10 Ref.12
Subunit structure: Interacts (via N-terminal extracellular domain) with PTHLH and PTH. Homodimer in the absence of bound ligand. Peptide hormone binding leads to dissociation of the homodimer. Interacts (via C-terminus) with the heterodimer formed by GNG2 and GNB1. Ref.10 Ref.12
Subcellular location: Cell membrane; Multi-pass membrane protein Ref.12.
Tissue specificity: Expressed in most tissues. Most abundant in kidney, bone and liver.
Involvement in disease: Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400]: Rare autosomal dominant disorder characterized by a short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two parathyroid hormones.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.13 Ref.14 Ref.15 Ref.17 Ref.20Chondrodysplasia Blomstrand type (BOCD) [MIM:215045]: Severe skeletal dysplasia.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.16Enchondromatosis multiple (ENCHOM) [MIM:166000]: A condition characterized by multiple formation of enchondromas, benign neoplasms derived from mesodermal cells that form cartilage. Enchondromas remain within the substance of a cartilage or bone. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma.Note: The disease may be caused by mutations affecting the gene represented in this entry. Ref.18 Ref.19Eiken skeletal dysplasia (EISD) [MIM:600002]: A rare 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.21Primary failure of tooth eruption (PFE) [MIM:125350]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry.
Sequence similarities: Belongs to the G-protein coupled receptor 2 family.
Research Articles on PTH1R
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Products associated with anti-PTH1R antibody
Pathways associated with anti-PTH1R antibody
Diseases associated with anti-PTH1R antibody
Organs/Tissues associated with anti-PTH1R antibody
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