Parathyroid hormone receptor 1

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Parathyroid hormone receptor 1
Identifiers
Symbols PTHR1 ; PTHR; MGC138426; MGC138452
External IDs OMIM: 168468 MGI97801 HomoloGene267
RNA expression pattern
File:PBB GE PTHR1 205911 at tn.png
More reference expression data
Orthologs

| | bgcolor="#C3FDB8" | Human | bgcolor="#C3FDB8" | Mouse |-

    | bgcolor="#C3FDB8" | Entrez 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 5745
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 19228

|-

     | bgcolor="#C3FDB8" | Ensembl
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSG00000160801
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSMUSG00000032492

|-

    | bgcolor="#C3FDB8" | Uniprot
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| Q03431
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| Q80WU8

|-

    | bgcolor="#C3FDB8" | Refseq
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" | NM_000316 (mRNA)
NP_000307 (protein)
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" |NM_011199 (mRNA)
NP_035329 (protein)

|-

    | bgcolor="#C3FDB8" | Location
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 3: 46.9 - 46.93 Mb 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 9: 110.57 -  110.59 Mb 

|-

|-

    | bgcolor="#C3FDB8" | Pubmed search 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [1]
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [2]
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

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).

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]

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 enchodromatosis.[3]

See also

References

  1. 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.
  2. 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.
  3. "Entrez Gene: PTHR1 parathyroid hormone receptor 1".

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: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. 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:10.1074/jbc.M910438199. PMID 10770955.

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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