Parathyroid hormone 1 receptor

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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).

PDBOrtholog search: PDBe RCSB
AliasesPTH1R, PFE, PTHR, PTHR1, Parathyroid hormone 1 receptor, EKNS
Quick facts PTH1R, Available structures ...
PTH1R
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPTH1R, PFE, PTHR, PTHR1, Parathyroid hormone 1 receptor, EKNS
External IDsOMIM: 168468; MGI: 97801; HomoloGene: 267; GeneCards: PTH1R; OMA:PTH1R - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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]
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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.[5][6] In bone, it is expressed on the surface of osteoblasts. 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 on 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 protein, which activates adenylyl cyclase. Besides this, they also activate the phosphatidylinositol-calcium second messenger system.

Pathology

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

Interactions

See also

References

Further reading

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