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Parathyroid hormone 1 receptor

From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens
PTH1R
Available structures
PDBOrtholog search:PDBeRCSB
List of PDB id codes

1BL1,3C4M,3H3G,3L2J,4Z8J

Identifiers
AliasesPTH1R, PFE, PTHR, PTHR1, Parathyroid hormone 1 receptor, EKNS
External IDsOMIM:168468;MGI:97801;HomoloGene:267;GeneCards:PTH1R;OMA:PTH1R - orthologs
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for PTH1R
Genomic location for PTH1R
Band3p21.31Start46,877,721bp[1]
End46,903,799bp[1]
Gene location (Mouse)
Chromosome 9 (mouse)
Chr.Chromosome 9 (mouse)[2]
Chromosome 9 (mouse)
Genomic location for PTH1R
Genomic location for PTH1R
Band9 F2|9 60.56 cMStart110,722,085bp[2]
End110,747,145bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • tibia

  • human kidney

  • right adrenal cortex

  • right lobe of liver

  • periodontal fiber

  • metanephric glomerulus

  • left adrenal cortex

  • right lung

  • kidney tubule

  • apex of heart
Top expressed in
  • right kidney

  • proximal tubule

  • human kidney

  • body of femur

  • calvaria

  • clavicle

  • dermis

  • internal carotid artery

  • membranous bone

  • ankle
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

5745

19228

Ensembl

ENSG00000160801

ENSMUSG00000032492

UniProt

Q03431

P41593

RefSeq (mRNA)

NM_000316
NM_001184744

NM_001083935
NM_001083936
NM_011199

RefSeq (protein)

NP_000307
NP_001171673

NP_001077404
NP_001077405
NP_035329

Location (UCSC)Chr 3: 46.88 – 46.9 MbChr 9: 110.72 – 110.75 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Parathyroid hormone/parathyroid hormone-related peptide receptor, also known asparathyroid hormone 1 receptor (PTH1R), is aprotein that in humans is encoded by thePTH1Rgene. PTH1R functions as areceptor for parathyroid hormone (PTH) and for parathyroid hormone-related protein (PTHrP), also called parathyroid hormone-like hormone (PTHLH).

Function

[edit]

This "classical" PTH receptor is expressed in high levels inbone andkidney and regulatescalciumionhomeostasis through activation ofadenylate cyclase andphospholipase C.[5][6] In bone, it is expressed on the surface ofosteoblasts. When the receptor is activated through PTH binding, osteoblasts express RANKL (Receptor Activator of Nuclear Factor kB Ligand), which binds to RANK (Receptor Activator of Nuclear Factor kB) on osteoclasts. This turns onosteoclasts to ultimately increase the resorption rate.

Mechanism

[edit]

It is a member of thesecretin family ofG protein-coupled receptors. The activity of this receptor is mediated byGs protein, which activatesadenylyl cyclase. Besides this, they also activate thephosphatidylinositol-calciumsecond messenger system.

Pathology

[edit]

Defects in this receptor are known to be the cause ofJansen's metaphyseal chondrodysplasia (JMC) andchondrodysplasia Blomstrand type (BOCD) as well asenchondromatosis[7] and primary failure of tooth eruption.[8]

Interactions

[edit]

Parathyroid hormone 1 receptor has been shown tointeract withSodium-hydrogen exchange regulatory cofactor 2[9] andSodium-hydrogen antiporter 3 regulator 1.[9]

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000160801Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000032492Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^Mannstadt M, Jüppner H, Gardella TJ (Nov 1999)."Receptors for PTH and PTHrP: their biological importance and functional properties".The American Journal of Physiology.277 (5 Pt 2): F665-75.doi:10.1152/ajprenal.1999.277.5.F665.PMID 10564229. Archived fromthe original on 2009-02-13. Retrieved2007-12-17.
  6. ^Offermanns S, Iida-Klein A, Segre GV, Simon MI (May 1996)."G alpha q family members couple parathyroid hormone (PTH)/PTH-related peptide and calcitonin receptors to phospholipase C in COS-7 cells".Molecular Endocrinology.10 (5):566–74.doi:10.1210/mend.10.5.8732687.PMID 8732687.
  7. ^"Entrez Gene: PTH1R parathyroid hormone 1 receptor".
  8. ^Yamaguchi T, Hosomichi K, Narita A, Shirota T, Tomoyasu Y, Maki K, Inoue I (Jul 2011)."Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese".Journal of Bone and Mineral Research.26 (7):1655–61.doi:10.1002/jbmr.385.PMID 21404329.S2CID 23855913.
  9. ^abMahon MJ, Donowitz M, Yun CC, Segre GV (Jun 2002). "Na(+)/H(+ ) exchanger regulatory factor 2 directs parathyroid hormone 1 receptor signalling".Nature.417 (6891):858–61.Bibcode:2002Natur.417..858M.doi:10.1038/nature00816.PMID 12075354.S2CID 4379134.

Further reading

[edit]

External links

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This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

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