Parathyroid hormone 1 receptor
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Parathyroid hormone 1 receptor | |||||||||||||
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Identifiers | |||||||||||||
Symbols | PTH1R; PTHR; MGC138426; MGC138452 | ||||||||||||
External IDs | OMIM: 168468 MGI: 97801 HomoloGene: 267 IUPHAR: PTH1 GeneCards: PTH1R Gene | ||||||||||||
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RNA expression pattern | |||||||||||||
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More reference expression data | |||||||||||||
Orthologs | |||||||||||||
Species | Human | Mouse | |||||||||||
Entrez | 5745 | 19228 | |||||||||||
Ensembl | ENSG00000160801 | ENSMUSG00000032492 | |||||||||||
UniProt | Q03431 | Q80WU8 | |||||||||||
RefSeq (mRNA) | NM_000316 | NM_011199 | |||||||||||
RefSeq (protein) | NP_000307 | NP_035329 | |||||||||||
Location (UCSC) | Chr 3: 46.9 - 46.93 Mb | Chr 9: 110.57 - 110.59 Mb | |||||||||||
PubMed search | [1] | [2] |
Parathyroid hormone/parathyroid hormone-related peptide receptor also known as parathyroid hormone 1 receptor (PTH1R) is a protein that in humans is encoded by the PTH1R gene. PTH1R functions as a receptor for parathyroid hormone (PTH) and for parathyroid hormone-related protein (PTHrP), also called parathyroid hormone-like hormone (PTHLH).
Contents
[hide]Function
This "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] In bone, it is expressed on the surface of osteoblasts. When the receptor is activated, these cells in turn stimulate osteoclasts to ultimately increase the resorption rate.
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.
Pathology
Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchondromatosis.[3]
Interactions
Parathyroid hormone 1 receptor has been shown to interact with Sodium-hydrogen exchange regulatory cofactor 2[4] and Sodium-hydrogen antiporter 3 regulator 1.[4]
See also
References
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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. doi:10.1016/S0163-4453(05)80037-4. 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. doi:10.1126/science.7701349. 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. doi:10.1210/jc.80.5.1611. 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. doi:10.1006/geno.1994.1122. 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. doi:10.1073/pnas.91.11.5051. 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. doi:10.1210/en.132.5.2157. 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. doi:10.1016/0922-4106(93)90092-N. 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. doi:10.1056/NEJM199609053351004. 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. doi:10.1073/pnas.94.8.3644. 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. doi:10.1210/me.11.7.851. 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. doi:10.1172/JCI2918. 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:10.1021/bi981265h. 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. doi:10.1210/jc.83.9.3373. 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. doi:10.1210/me.12.11.1673. 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. doi:10.1210/en.140.2.925. 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. doi:10.1210/jc.84.9.3052. 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. doi:10.1210/jc.84.10.3713. 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. doi:10.1016/S8756-3282(99)00264-1. 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:10.1074/jbc.M910438199. PMID 10770955.
External links
- "Parathyroid Hormone Receptors: PTH1". IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology.
- MeSH Receptor,+Parathyroid+Hormone,+Type+1
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- Jump up ↑ 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.
- Jump up ↑ 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:10.1210/me.10.5.566. PMID 8732687.
- Jump up ↑ "Entrez Gene: PTH1R parathyroid hormone 1 receptor".
- ↑ Jump up to: 4.0 4.1 Lua error in package.lua at line 80: module 'Module:Citation/CS1/Suggestions' not found.