Human Gene PTH1R (ENST00000449590.6) from GENCODE V44
Description: Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA. (from RefSeq NM_000316) RefSeq Summary (NM_000316): 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]. Gencode Transcript: ENST00000449590.6 Gencode Gene: ENSG00000160801.14 Transcript (Including UTRs) Position: hg38 chr3:46,877,721-46,903,799 Size: 26,079 Total Exon Count: 16 Strand: + Coding Region Position: hg38 chr3:46,883,560-46,903,656 Size: 20,097 Coding Exon Count: 14
ID:PTH1R_HUMAN DESCRIPTION: RecName: Full=Parathyroid hormone/parathyroid hormone-related peptide receptor; AltName: Full=PTH/PTHrP type I receptor; Short=PTH/PTHr receptor; AltName: Full=Parathyroid hormone 1 receptor; Short=PTH1 receptor; Flags: Precursor; 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. SUBUNIT: 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. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Expressed in most tissues. Most abundant in kidney, bone and liver. DISEASE: Defects in PTH1R are the cause of Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400]. 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. DISEASE: Defects in PTH1R are the cause of chondrodysplasia Blomstrand type (BOCD) [MIM:215045]. BOCD is a severe skeletal dysplasia. DISEASE: Defects in PTH1R may be a cause of enchondromatosis multiple (ENCHOM) [MIM:166000]. 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. DISEASE: Defects in PTH1R are the cause of Eiken skeletal dysplasia (EISD) [MIM:600002]; 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. DISEASE: Defects in PTH1R are a cause of primary failure of tooth eruption (PFE) [MIM:125350]. 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. SIMILARITY: Belongs to the G-protein coupled receptor 2 family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PTH1R";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q03431
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.