Parathyroid hormone receptor 1
From Wikipedia, the free encyclopedia
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Parathyroid hormone receptor 1
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| Identifiers | ||||||||||||||
| Symbol(s) | PTHR1; PTHR; MGC138426; MGC138452 | |||||||||||||
| External IDs | OMIM: 168468 MGI: 97801 HomoloGene: 267 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 5745 | 19228 | ||||||||||||
| Ensembl | ENSG00000160801 | ENSMUSG00000032492 | ||||||||||||
| Uniprot | Q03431 | Q80WU8 | ||||||||||||
| Refseq | NM_000316 (mRNA) NP_000307 (protein) |
NM_011199 (mRNA) NP_035329 (protein) |
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| Location | Chr 3: 46.9 - 46.93 Mb | Chr 9: 110.57 - 110.59 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
Parathyroid hormone receptor 1 is a parathyroid hormone receptor It is encoded by the gene PTHR1. It is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH).
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[edit] Function
It is the 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.[1][2]
[edit] Mechanism
It is a member of the secretin family of G protein-coupled receptors. The activity of this receptor is mediated by Gs G proteins which activate adenylyl cyclase. Besides, they also activate phosphatidylinositol-calcium second messenger system.
[edit] Pathology
Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis.[3]
[edit] See also
[edit] References
- ^ Mannstadt M, Jüppner H, Gardella TJ (1999). "Receptors for PTH and PTHrP: their biological importance and functional properties". Am. J. Physiol. 277 (5 Pt 2): F665–75. PMID 10564229.
- ^ Offermanns S, Iida-Klein A, Segre GV, Simon MI (1996). "G alpha q family members couple parathyroid hormone (PTH)/PTH-related peptide and calcitonin receptors to phospholipase C in COS-7 cells". Mol. Endocrinol. 10 (5): 566–74. doi:. PMID 8732687.
- ^ Entrez Gene: PTHR1 parathyroid hormone receptor 1.
[edit] Further reading
- Bonaventure J, Silve C (2006). "[Hereditary skeletal dysplasias and FGFR3 and PTHR1 signaling pathways]". Med Sci (Paris) 21 (11): 954–61. PMID 16274647.
- Dawson SJ, White LA (1992). "Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin.". J. Infect. 24 (3): 317–20. PMID 1602151.
- Schipani E, Kruse K, Jüppner H (1995). "A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia.". Science 268 (5207): 98–100. PMID 7701349.
- Schipani E, Weinstein LS, Bergwitz C, et al. (1995). "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 (5): 1611–21. PMID 7745008.
- Pausova Z, Bourdon J, Clayton D, et al. (1994). "Cloning of a parathyroid hormone/parathyroid hormone-related peptide receptor (PTHR) cDNA from a rat osteosarcoma (UMR 106) cell line: chromosomal assignment of the gene in the human, mouse, and rat genomes.". Genomics 20 (1): 20–6. PMID 8020952.
- McCuaig KA, Clarke JC, White JH (1994). "Molecular cloning of the gene encoding the mouse parathyroid hormone/parathyroid hormone-related peptide receptor.". Proc. Natl. Acad. Sci. U.S.A. 91 (11): 5051–5. PMID 8197183.
- Schipani E, Karga H, Karaplis AC, et al. (1993). "Identical complementary deoxyribonucleic acids encode a human renal and bone parathyroid hormone (PTH)/PTH-related peptide receptor.". Endocrinology 132 (5): 2157–65. PMID 8386612.
- Schneider H, Feyen JH, Seuwen K, Movva NR (1993). "Cloning and functional expression of a human parathyroid hormone receptor.". Eur. J. Pharmacol. 246 (2): 149–55. PMID 8397094.
- Schipani E, Langman CB, Parfitt AM, et al. (1996). "Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia.". N. Engl. J. Med. 335 (10): 708–14. PMID 8703170.
- Zhou AT, Bessalle R, Bisello A, et al. (1997). "Direct mapping of an agonist-binding domain within the parathyroid hormone/parathyroid hormone-related protein receptor by photoaffinity crosslinking.". Proc. Natl. Acad. Sci. U.S.A. 94 (8): 3644–9. PMID 9108031.
- Schipani E, Jensen GS, Pincus J, et al. (1997). "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 (7): 851–8. PMID 9178745.
- Jobert AS, Zhang P, Couvineau A, et al. (1998). "Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.". J. Clin. Invest. 102 (1): 34–40. PMID 9649554.
- Pellegrini M, Bisello A, Rosenblatt M, et al. (1998). "Binding domain of human parathyroid hormone receptor: from conformation to function.". Biochemistry 37 (37): 12737–43. doi:. PMID 9737850.
- Zhang P, Jobert AS, Couvineau A, Silve C (1998). "A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia.". J. Clin. Endocrinol. Metab. 83 (9): 3365–8. PMID 9745456.
- Adams AE, Bisello A, Chorev M, et al. (1999). "Arginine 186 in the extracellular N-terminal region of the human parathyroid hormone 1 receptor is essential for contact with position 13 of the hormone.". Mol. Endocrinol. 12 (11): 1673–83. PMID 9817594.
- Matsuzaki K, Katayama K, Takahashi Y, et al. (1999). "Human osteoclast-like cells are formed from peripheral blood mononuclear cells in a coculture with SaOS-2 cells transfected with the parathyroid hormone (PTH)/PTH-related protein receptor gene.". Endocrinology 140 (2): 925–32. PMID 9927325.
- Schipani E, Langman C, Hunzelman J, et al. (1999). "A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia.". J. Clin. Endocrinol. Metab. 84 (9): 3052–7. PMID 10487664.
- Karperien M, van der Harten HJ, van Schooten R, et al. (1999). "A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia.". J. Clin. Endocrinol. Metab. 84 (10): 3713–20. PMID 10523019.
- Watson PH, Fraher LJ, Natale BV, et al. (2000). "Nuclear localization of the type 1 parathyroid hormone/parathyroid hormone-related peptide receptor in MC3T3-E1 cells: association with serum-induced cell proliferation.". Bone 26 (3): 221–5. PMID 10709993.
- Truneh A, Sharma S, Silverman C, et al. (2000). "Temperature-sensitive differential affinity of TRAIL for its receptors. DR5 is the highest affinity receptor.". J. Biol. Chem. 275 (30): 23319–25. doi:. PMID 10770955.
[edit] External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.

