Nomenclature: PTH1 receptor

Family: Parathyroid hormone receptors

Annotation status:  image of a green circle Annotated and expert reviewed. Please contact us if you can help with updates. 

Contents

Gene and Protein Information
class B G protein-coupled receptor
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 7 593 3p22-p21.1 PTH1R parathyroid hormone 1 receptor 15,24,53,58
Mouse 7 591 9 F Pth1r parathyroid hormone 1 receptor 43
Rat 7 591 8q32 Pth1r parathyroid hormone 1 receptor 1
Previous and Unofficial Names
Names References
PPR 21
PTH/PTHrP receptor
PTH/PTHrP
PTHR
PTHR1
parathyroid hormone receptor 1
PTHrel
Pth1r
PTH/PTHr receptor
PTH/PTHrP type I receptor
Parathyroid hormone/parathyroid hormone-related peptide receptor
parathyroid hormone 1 receptor
parathyroid hormone receptor
PTH-related peptide receptor
Database Links
ChEMBL Target
DrugBank Target
Ensembl Gene
Entrez Gene
GPCRDB
GeneCards
GenitoUrinary Development Molecular Anatomy Project
HomoloGene
Human Protein Reference Database
InterPro
KEGG Gene
OMIM
Orphanet Gene
PharmGKB Gene
PhosphoSitePlus
Protein Ontology (PRO)
RefSeq Nucleotide
RefSeq Protein
TreeFam
UniGene Hs.
UniProtKB
Wikipedia
Selected 3D Structures
Image of receptor 3D structure from RCSB PDB
Description:  Crystal structure of PTH1 receptor extracellular domain in complex with PTH
PDB Id:  3C4M
Ligand:  PTH   This ligand is endogenous
Resolution:  1.95Å
Species:  Human
References:  48
Natural/Endogenous Ligands
PTH {Sp: Human} , PTH {Sp: Rat} , PTH {Sp: Mouse}
PTHrP {Sp: Human}
PTHrP-(1-36) {Sp: Human}
Rank order of potency (Human)
PTH (PTH, P01270) = PTHrP (PTHLH, P12272)
Agonists
Key to terms and symbols Click column headers to sort
Ligand Sp. Action Affinity Units Reference
[125I][Nle8,21,Tyr34]PTH-(1-34)-NH2 (rat) Hs Full agonist 8.0 pKd 7
pKd 8.0 [7]
[Ala1,12,Aib3,Gln10,hArg11,Trp14,Arg19]PTH-(1-34)-NH2 Hs Full agonist 8.7 pIC50 46
pIC50 8.7 [46]
[Ala1,12,Aib3,Gln10,hArg11,Trp14,Arg19]PTH-(1-28)-NH2 (human) Hs Full agonist 8.6 pIC50 46
pIC50 8.6 [46]
[Arg19]PTH-(1-34) (human) Rn Full agonist 8.6 pIC50 23
pIC50 8.6 [23]
teriparatide Rn Full agonist 8.1 – 8.7 pIC50 23
pIC50 8.1 – 8.7 [23]
[Ile5]PTHrP-(1-34) (human) Rn Full agonist 8.4 pIC50 23
pIC50 8.4 [23]
[Tyr34]PTH-(1-34) (human) Hs Full agonist 8.1 – 8.5 pIC50 35
pIC50 8.1 – 8.5 [35]
[Tyr34]PTH-(1-34)-NH2 (human) Rn Full agonist 8.2 pIC50 21
pIC50 8.2 [21]
[Nle8,18,Tyr34]PTH-(1-34)-NH2 (bovine) Rn Full agonist 8.1 pIC50 21
pIC50 8.1 [21]
[Nle8,18,Tyr34]PTH-(3-34)-NH2 (bovine) Rn Full agonist 8.0 pIC50 21
pIC50 8.0 [21]
[Ile5,Glu19]PTHrP-(1-34) (human) Rn Full agonist 8.0 pIC50 23
pIC50 8.0 [23]
PTHrP-(1-34) Rn Full agonist 7.8 – 8.1 pIC50 23
pIC50 7.8 – 8.1 [23]
[Tyr34]PTH-(3-34)-NH2 (human) Rn Full agonist 7.8 pIC50 21
pIC50 7.8 [21]
[Ile5,Val21]PTHrP-(1-34) (human) Rn Full agonist 7.8 pIC50 23
pIC50 7.8 [23]
[Ile5,Trp23]PTHrP-(3-36) (human) Hs Full agonist 7.8 pIC50 10
pIC50 7.8 [10]
PTHrP-(1-20)/TIP-(23-39) (human) Hs Full agonist 7.5 – 8.0 pIC50 35
pIC50 7.5 – 8.0 [35]
PTHrP-(1-21)/PTH-(22-34) (human) Hs Full agonist 7.7 pIC50 22
pIC50 7.7 [22]
[Ile5,Trp23]PTHrP-(1-36) (human) Hs Full agonist 7.4 – 7.8 pIC50 10,22
pIC50 7.4 – 7.8 [10,22]
[Ile5,Trp23]PTHrP-(2-36) (human) Hs Full agonist 7.6 pIC50 10
pIC50 7.6 [10]
[Ile5,Trp23,Tyr36]PTHrP-(1-36)-NH2 (human) Hs Full agonist 7.5 pIC50 7
pIC50 7.5 [7]
[Ile5]PTHrP-(1-36) (human) Hs Full agonist 7.4 pIC50 22
pIC50 7.4 [22]
teriparatide Hs Full agonist 7.4 pIC50 22
pIC50 7.4 [22]
[Ile5,Trp23]PTHrP-(4-36) (human) Hs Full agonist 7.4 pIC50 10
pIC50 7.4 [10]
[Ile5,Glu19,Val21]PTHrP-(1-34) (human) Rn Full agonist 7.4 pIC50 23
pIC50 7.4 [23]
[Trp23]PTHrP-(1-36) (human) Hs Full agonist 7.3 pIC50 22
pIC50 7.3 [22]
[Tyr36]-PTHrP-(1-36) amide (human) Hs Full agonist 7.1 – 7.4 pIC50 35
pIC50 7.1 – 7.4 [35]
PTH-(1-34) (rat) Hs Full agonist 7.1 – 7.2 pIC50 10
pIC50 7.1 – 7.2 [10]
[Ala1,12,Aib3,Gln10,hArg11,Trp14,Arg19]PTH-(1-21)-NH2 (human) Hs Full agonist 7.1 pIC50 46
pIC50 7.1 [46]
[Trp23,Tyr36]PTHrP-(1-36)-NH2 (human) Hs Full agonist 7.0 pIC50 7
pIC50 7.0 [7]
[Phe23]PTH-(1-34) (human) Hs Full agonist 7.0 pIC50 22
pIC50 7.0 [22]
PTHrP-(1-36) {Sp: Human} Hs Full agonist 6.5 pIC50 22
pIC50 6.5 [22]
[His5,Arg19]PTH-(1-34) (human) Rn Full agonist 6.4 pIC50 23
pIC50 6.4 [23]
[His5]PTH-(1-34) (human) Hs Full agonist 5.3 pIC50 22
pIC50 5.3 [22]
[His5]PTH-(1-34) (human) Rn Full agonist 5.1 pIC50 23
pIC50 5.1 [23]
[Ala1,12,Aib3,Gln10,hArg11,Trp14]PTH-(1-14)-NH2 Hs Full agonist 4.5 pIC50 46
pIC50 4.5 [46]
View species-specific agonist tables
Agonist Comments
The species of peptide ligand is stated in parentheses. This can include synthetic peptides made based on the sequence of the stated species.
Antagonists
Key to terms and symbols Click column headers to sort
Ligand Sp. Action Affinity Units Reference
[D-Trp12]PTH-(7-34) (bovine) Hs Antagonist 0.0 pKd 22
pKd 0.0 [22]
TIP39-(7-39) (human/bovine) Hs Antagonist 8.2 pIC50 29
pIC50 8.2 [29]
TIP39-(9-39) (human/bovine) Hs Antagonist 7.4 pIC50 35
pIC50 7.4 [35]
[D-Trp12,Tyr34]PTH-(7-34) (bovine) Hs Antagonist 7.4 pIC50 29
pIC50 7.4 [29]
PTHrP-(7-34) (human, rat, mouse) Hs Antagonist 7.2 pIC50 29
pIC50 7.2 [29]
TIP39-(3-39) (human/bovine) Hs Antagonist 7.0 – 7.2 pIC50 35
pIC50 7.0 – 7.2 [35]
[Ile5,Trp23]PTHrP-(5-36) Hs Antagonist 7.0 pIC50 10
pIC50 7.0 [10]
TIP39 {Sp: Human, Bovine} Hs Antagonist 6.6 – 7.2 pIC50 28,35
pIC50 6.6 – 7.2 [28,35]
Antagonist Comments
The species of peptide ligand is stated in parentheses. This can include synthetic peptides made based on the sequence of the stated species.
Primary Transduction Mechanisms
Transducer Effector/Response
Gs family Adenylate cyclase stimulation
References:  45,49,57,59
Secondary Transduction Mechanisms
Transducer Effector/Response
Gq/G11 family Phospholipase C stimulation
References:  17,32,45,59
Tissue Distribution
Bone: osteoclasts, osteoblasts, osteocytes, bone marrow.
Species:  Human
Technique:  In situ hybridisation histochemistry and immunohistochemistry.
References:  40
CNS: thymus.
Species:  Human
Technique:  RT-PCR.
References:  25
Kidney: cells lining the proximal tubules and collecting ducts.
Uterus: smooth muscle layers, glandular cuboidal cells, surface columnar epithelium.
Small intestine: smooth muscle layers, glandular cuboidal cells, surface columnar epithelium.
Ovary: thecal layer of large antral follicles and oocytes, cytoplasm and nucleus of granulosa cells.
Liver: large hepatocytes radiating outward from central veins, peripheral cells, but not within two or three cell layers of the surface.
Species:  Rat
Technique:  Immunohistochemistry and in situ hybridisation.
References:  69
Bone: osteoblasts, osteocytes.
Species:  Rat
Technique:  In situ hybridisation and autoradiography.
References:  18
Kidney, bone > aorta, adrenal gland, bladder, brain, cerebellum, breast, heart, ileum, liver, lung, skeletal muscle, ovary, placenta, skin, spleen, stomach, uterus, testes.
Species:  Rat
Technique:  Northern blotting.
References:  68
Kidney > heart, brain, spleen, lung, liver, skeletal muscle, testis.
Species:  Rat
Technique:  Northern blotting.
References:  67
Kidney nephron: glomeruli, proximal convoluted and straight tubules, medullary and cortical thick ascending limbs, distal convoluted tubules.
Species:  Rat
Technique:  RT-PCR.
References:  71
Expression Datasets

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Log average relative transcript abundance in mouse tissues measured by qPCR from Regard, J.B., Sato, I.T., and Coughlin, S.R. (2008). Anatomical profiling of G protein-coupled receptor expression. Cell, 135(3): 561-71. [PMID:18984166] [Raw data: website]

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Functional Assays
Measurement of PLC activity in LLC-PK1 cells transfected with the human PTH1 receptor.
Species:  Human
Tissue:  LLC-PK1 cells.
Response measured:  Stimulation of PLC activity.
References:  64-66
Measurement of cAMP levels and ACTH release from AtT20 cells transfected with the rat PTH1 receptor.
Species:  Rat
Tissue:  AtT20 cells.
Response measured:  Stimulation of cAMP accumulation and ACTH release.
References:  2
Measurement of cAMP levels in COS-7 cells transfected with the human PTH1 receptor.
Species:  Human
Tissue:  COS-7 cells.
Response measured:  Stimulation of cAMP accumulation.
References:  11,15,53
Measurement of cAMP levels in COS-7 cells transfected with the rat PTH1 receptor.
Species:  Rat
Tissue:  COS-7 cells.
Response measured:  Stimulation of cAMP accumulation.
References:  1,20
Measurement of PLC activity in LLC-PK1 cells transfected with the rat PTH1 receptor.
Species:  Rat
Tissue:  LLC-PK1 cells.
Response measured:  Stimulation of PLC activity.
References:  27,32,64-65
Measurement of Ca2+ levels in HEK 293 cells transfected with the human PTH1 receptor.
Species:  Human
Tissue:  HEK 293 cells.
Response measured:  Stimulation of Ca2+ mobilisation from intracellular stores.
References:  6,33,47,61
Measurement of cell number, proliferation and DNA fragmentation in periodontal ligament cells (PDL) endogenously expressing the human PTH1 receptor, following receptor activation and PKC inhibition.
Species:  Human
Tissue:  Periodontal ligament (PDL) cells.
Response measured:  Inhibition of agonist-induced proliferation and enhanced apoptosis.
References:  42
Measurement of cell number, proliferation and DNA fragmentation in periodontal ligament cells (PDL) endogenously expressing the human PTH1 receptor, following receptor activation and inhibition of PKA activity.
Species:  Human
Tissue:  Periodontal ligament (PDL) cells.
Response measured:  Enhancement of agonist-induced proliferation and DNA fragmentation.
References:  42
Measurement of cell number, proliferation and DNA fragmentation in periodontal ligament cells (PDL) endogenously expressing the human PTH1 receptor, following receptor activation and inhibition of MAPK activity.
Species:  Human
Tissue:  Periodontal ligament (PDL) cells.
Response measured:  Reduced cell number, proliferation and DNA fragmentation.
References:  42
Measurement of extracellular acidification rate (ECAR) in human osteoblast-like SaOS-2 cells endogenously expressing the PTH1 receptor.
Species:  Human
Tissue:  SaOS-2 cells.
Response measured:  Stimulation of ECAR.
References:  4
Measurement of Ca2+ levels in HEK 293 cells endogenously expressing low levels of the PTH1 receptor.
Species:  Human
Tissue:  Untransfected HEK 293 cells.
Response measured:  Stimulation of Ca2+ mobilisation from intracellular stores.
References:  33
Measurement of cAMP levels in human podocytes endogenously expressing the PTH1 receptor.
Species:  Human
Tissue:  Podocytes.
Response measured:  Stimulation of cAMP accumulation.
References:  16
Measurement of MAPK pathway activity in HEK 293 cells transfected with the human PTH1 receptor.
Species:  Human
Tissue:  HEK 293 cells.
Response measured:  Stimulation of ERK activity.
References:  26
Physiological Functions
Bone formation and resorption.
Species:  Mouse
Tissue:  In vivo (bone).
References:  9
Stimulation of osteoblast development.
Species:  Rat
Tissue:  In vivo (bone).
References:  70
Modulation of cell proliferation and differentiation.
Species:  Mouse
Tissue:  In vivo (cartilage and bone).
References:  3
Inhibition of angiogenesis.
Species:  Mouse
Tissue:  Fetal skin.
References:  13
Physiological Consequences of Altering Gene Expression
Fetal skins from PTH1 receptor knockout mice exhibit an increase in length, diameter and density of capillaries.
Species:  Mouse
Tissue: 
Technique:  Gene targeting in embryonic stem cells.
References:  13
PTH1 receptor knockout mice exhibit diminished proliferation and premature maturation of chondrocytes.
Homozygous PTH1 receptor knockout mice die within several hours of birth.
Heterozygous PTH1 receptor knockout mice reach adulthood and exhibit signs of osteopenia.
Species:  Mouse
Tissue: 
Technique:  Gene targeting in embryonic stem cells.
References:  3
Transgenic mice expressing the constitutively active PTH1 receptor described in Jansen's metaphyseal chondrodysplasia exhibit an increase in trabecular bone volume and a decrease in cortical bone thickness of the long bones.
Species:  Mouse
Tissue: 
Technique:  Gene targeting in embryonic stem cells.
References:  9
PTH1 receptor knockout mice exhibit an increase in cortical bone, a decrease in trabecular bone and a defect in bone mineralisation.
Targeted expression of the Jansen transgene (encoding a constitutively active PTH1 receptor) in these PTH1 receptor knockout mice results in an almost complete restoration of bone phenotype.
Species:  Mouse
Tissue: 
Technique:  Gene targeting in embryonic stem cells.
References:  63
The majority of PTH1 receptor knockout mice die mid-gestation, but those that survive exhibit accelerated differentiation of chondrocytes in bone.
Species:  Mouse
Tissue: 
Technique:  Gene targeting in embryonic stem cells.
References:  41
Mice knocked-in with an internalisation-impaired mutant PTH1 receptor exhibit a decrease in PTH levels and exaggerated cAMP and calcium responses to PTH.
Species:  Mouse
Tissue: 
Technique:  Homologous recombination.
References:  8
PTH1 receptor knockout mice exhibit growth plate chondrodysplasia.
Species:  Mouse
Tissue: 
Technique:  Gene targeting in embryonic stem cells.
References:  39
Phenotypes, Alleles and Disease Models Mouse data from MGI

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Allele Composition & genetic background Accession Phenotype Id Phenotype Reference
Pth1rtm1Abas Pth1rtm1Abas/Pth1rtm1Abas
B6.Cg-Pth1r
MGI:97801  MP:0009642 abnormal blood homeostasis PMID: 16840548 
Pth1rtm1Hmk|Pth1rtm2Hmk|Pthlhtm1Hmk|Tg(Col2a1-PTHLH)1Ecw Pthlhtm1Hmk/Pthlhtm1Hmk,Pth1rtm1Hmk/Pth1rtm2Hmk,Tg(Col2a1-PTHLH)1Ecw/0
involves: 129S2/SvPas * 129S4/SvJae * C57BL/6 * SJL
MGI:2388103  MGI:97800  MGI:97801  MP:0000168 abnormal bone marrow development PMID: 15951842 
Pth1rtm1Hmk Pth1rtm1Hmk/Pth1rtm1Hmk
involves: 129X1/SvJ * Black Swiss * C57BL/6
MGI:97801  MP:0002896 abnormal bone mineralization PMID: 8662561 
Pth1rtm1Hmk|Pth1rtm3Hmk Pth1rtm1Hmk/Pth1rtm3Hmk
involves: 129S4/SvJae * C57BL/6
MGI:97801  MP:0000166 abnormal chondrocyte morphology PMID: 12050144 
Ihh+|Ihhtm2Amc|Pth1rtm1Hmk|Pth1rtm2Hmk|Tg(Bglap2-cre)1Kry Ihhtm2Amc/Ihh+,Pth1rtm1Hmk/Pth1rtm2Hmk,Tg(Bglap2-cre)1Kry/0
involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 * FVB
MGI:3041871  MGI:96533  MGI:97801  MP:0000166 abnormal chondrocyte morphology PMID: 15951842 
Ihhtm1Amc|Ihhtm2Amc|Pth1rtm1Hmk|Pth1rtm2Hmk|Tg(Bglap2-cre)1Kry Ihhtm1Amc/Ihhtm2Amc,Pth1rtm1Hmk/Pth1rtm2Hmk,Tg(Bglap2-cre)1Kry/0
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * FVB
MGI:3041871  MGI:96533  MGI:97801  MP:0000166 abnormal chondrocyte morphology PMID: 15951842 
Pth1rtm1Hmk|Pth1rtm2Hmk|Pthlhtm1Hmk|Tg(Bglap2-cre)1Kry|Tg(Col2a1-PTHLH)1Ecw Pthlhtm1Hmk/Pthlhtm1Hmk,Pth1rtm1Hmk/Pth1rtm2Hmk,Tg(Bglap2-cre)1Kry/0,Tg(Col2a1-PTHLH)1Ecw/0
involves: 129S2/SvPas * 129S4/SvJae * C57BL/6 * FVB * SJL
MGI:2388103  MGI:3041871  MGI:97800  MGI:97801  MP:0000166 abnormal chondrocyte morphology PMID: 15951842 
Pth1rtm1Abas Pth1rtm1Abas/Pth1rtm1Abas
B6.Cg-Pth1r
MGI:97801  MP:0001565 abnormal circulating phosphate level PMID: 16840548 
Pth1rtm1Hmk Pth1rtm1Hmk/Pth1rtm1Hmk
involves: 129X1/SvJ * Black Swiss * C57BL/6
MGI:97801  MP:0000438 abnormal cranium morphology PMID: 8662561 
Pth1rtm1Hmk Pth1rtm1Hmk/Pth1rtm1Hmk
involves: 129X1/SvJ * Black Swiss * C57BL/6
MGI:97801  MP:0006429 abnormal hyaline cartilage morphology PMID: 8662561 
Pth1rtm1Hmk|Pth1rtm3Hmk Pth1rtm1Hmk/Pth1rtm3Hmk
involves: 129S4/SvJae * C57BL/6
MGI:97801  MP:0002109 abnormal limb morphology PMID: 12050144 
Pth1rtm1Hmk|Pth1rtm3Hmk Pth1rtm1Hmk/Pth1rtm3Hmk
involves: 129S4/SvJae * C57BL/6
MGI:97801  MP:0003055 abnormal long bone epiphyseal plate morphology PMID: 12050144 
Pth1rtm2Hmk|Tg(Bglap2-cre)1Kry Pth1rtm2Hmk/Pth1rtm2Hmk,Tg(Bglap2-cre)1Kry/0
involves: 129S4/SvJae * C57BL/6 * FVB
MGI:3041871  MGI:97801  MP:0003055 abnormal long bone epiphyseal plate morphology PMID: 12050144 
Pth1rtm3Hmk Pth1rtm3Hmk/Pth1rtm3Hmk
involves: 129S4/SvJae * C57BL/6
MGI:97801  MP:0003055 abnormal long bone epiphyseal plate morphology PMID: 12050144 
Pth1rtm1Hmk|Pth1rtm2Hmk|Tg(Bglap2-cre)1Kry Pth1rtm1Hmk/Pth1rtm2Hmk,Tg(Bglap2-cre)1Kry/0
involves: 129S4/SvJae * C57BL/6 * FVB
MGI:3041871  MGI:97801  MP:0003055 abnormal long bone epiphyseal plate morphology PMID: 15951842 
Pth1rtm1Hmk|Pth1rtm2Hmk|Pthlhtm1Hmk|Tg(Col2a1-PTHLH)1Ecw Pthlhtm1Hmk/Pthlhtm1Hmk,Pth1rtm1Hmk/Pth1rtm2Hmk,Tg(Col2a1-PTHLH)1Ecw/0
involves: 129S2/SvPas * 129S4/SvJae * C57BL/6 * SJL
MGI:2388103  MGI:97800  MGI:97801  MP:0003055 abnormal long bone epiphyseal plate morphology PMID: 15951842 
Pth1rtm1Hmk|Pth1rtm2Hmk|Pthlhtm1Hmk|Tg(Bglap2-cre)1Kry|Tg(Col2a1-PTHLH)1Ecw Pthlhtm1Hmk/Pthlhtm1Hmk,Pth1rtm1Hmk/Pth1rtm2Hmk,Tg(Bglap2-cre)1Kry/0,Tg(Col2a1-PTHLH)1Ecw/0
involves: 129S2/SvPas * 129S4/SvJae * C57BL/6 * FVB * SJL
MGI:2388103  MGI:3041871  MGI:97800  MGI:97801  MP:0003055 abnormal long bone epiphyseal plate morphology PMID: 15951842 
Pth1rtm1Hmk Pth1rtm1Hmk/Pth1rtm1Hmk
involves: 129X1/SvJ * Black Swiss * C57BL/6
MGI:97801  MP:0003662 abnormal long bone epiphyseal plate proliferative zone PMID: 8662561 
Pth1rtm1Hmk|Pth1rtm3Hmk Pth1rtm1Hmk/Pth1rtm3Hmk
involves: 129S4/SvJae * C57BL/6
MGI:97801  MP:0000165 abnormal long bone hypertrophic chondrocyte zone PMID: 12050144 
Pth1rtm1Hmk|Pth1rtm3Hmk|Tg(Col2a1-PTHR1*H223R)AHju Pth1rtm1Hmk/Pth1rtm3Hmk,Tg(Col2a1-PTHR1*H223R)AHju/?
involves: 129S4/SvJae * C57BL/6
MGI:3584002  MGI:97801  MP:0000165 abnormal long bone hypertrophic chondrocyte zone PMID: 12050144 
Pth1rtm2Hmk|Tg(Bglap2-cre)1Kry Pth1rtm2Hmk/Pth1rtm2Hmk,Tg(Bglap2-cre)1Kry/0
involves: 129S4/SvJae * C57BL/6 * FVB
MGI:3041871  MGI:97801  MP:0000165 abnormal long bone hypertrophic chondrocyte zone PMID: 12050144 
Ihh+|Ihhtm2Amc|Pth1rtm1Hmk|Pth1rtm2Hmk|Tg(Bglap2-cre)1Kry Ihhtm2Amc/Ihh+,Pth1rtm1Hmk/Pth1rtm2Hmk,Tg(Bglap2-cre)1Kry/0
involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 * FVB
MGI:3041871  MGI:96533  MGI:97801  MP:0000165 abnormal long bone hypertrophic chondrocyte zone PMID: 15951842 
Pth1rtm1Hmk Pth1rtm1Hmk/Pth1rtm1Hmk
involves: 129X1/SvJ * Black Swiss * C57BL/6
MGI:97801  MP:0000074 abnormal neurocranium morphology PMID: 8662561 
Pth1rtm1Abas Pth1rtm1Abas/Pth1rtm1Abas
B6.Cg-Pth1r
MGI:97801  MP:0005006 abnormal osteoblast physiology PMID: 16840548 
Pth1rtm1Hmk|Pth1rtm2Hmk|Pthlhtm1Hmk|Tg(Col2a1-PTHLH)1Ecw Pthlhtm1Hmk/Pthlhtm1Hmk,Pth1rtm1Hmk/Pth1rtm2Hmk,Tg(Col2a1-PTHLH)1Ecw/0
involves: 129S2/SvPas * 129S4/SvJae * C57BL/6 * SJL
MGI:2388103  MGI:97800  MGI:97801  MP:0000057 abnormal osteogenesis PMID: 15951842 
Pth1rtm4Hmk Pth1rtm4Hmk/Pth1rtm4Hmk
involves: 129S4/SvJae * C57BL/6
MGI:97801  MP:0002113 abnormal skeleton development PMID: 12194850 
Pth1rtm2Hmk|Tg(Col2a1-cre)1Rsjo Pth1rtm2Hmk/Pth1rtm2Hmk,Tg(Col2a1-cre)1Rsjo/0
involves: 129S4/SvJae * C57BL/6 * FVB/N
MGI:2450251  MGI:97801  MP:0000157 abnormal sternum morphology PMID: 12050144 
Pth1rtm1Hmk Pth1rtm1Hmk/Pth1rtm1Hmk
involves: 129X1/SvJ * Black Swiss * C57BL/6
MGI:97801  MP:0004053 abnormal synchondrosis PMID: 8662561 
Pth1rtm2Hmk|Tg(Col2a1-cre)1Rsjo Pth1rtm2Hmk/Pth1rtm2Hmk,Tg(Col2a1-cre)1Rsjo/0
involves: 129S4/SvJae * C57BL/6 * FVB/N
MGI:2450251  MGI:97801  MP:0002657 chondrodystrophy PMID: 12050144 
Pth1rtm2Hmk|Tg(Col2a1-cre)1Rsjo Pth1rtm2Hmk/Pth1rtm2Hmk,Tg(Col2a1-cre)1Rsjo/0
involves: 129S4/SvJae * C57BL/6 * FVB/N
MGI:2450251  MGI:97801  MP:0000167 decreased chondrocyte cell number PMID: 12050144 
Pth1rtm1Abas Pth1rtm1Abas/Pth1rtm1Abas
B6.Cg-Pth1r
MGI:97801  MP:0002905 decreased circulating parathyroid hormone level PMID: 16840548 
Pth1rtm1Hmk Pth1rtm1Hmk/Pth1rtm1Hmk
involves: 129X1/SvJ * C57BL/6
MGI:97801  MP:0001698 decreased embryo size PMID: 8662561 
Pth1rtm1Hmk Pth1rtm1Hmk/Pth1rtm1Hmk
involves: 129X1/SvJ * C57BL/6 * MF1
MGI:97801  MP:0001698 decreased embryo size PMID: 8662561 
Pth1rtm1Hmk Pth1rtm1Hmk/Pth1rtm1Hmk
involves: 129X1/SvJ * Black Swiss * C57BL/6
MGI:97801  MP:0001698 decreased embryo size PMID: 8662561 
Pth1rtm1Hmk Pth1rtm1Hmk/Pth1rtm1Hmk
involves: 129X1/SvJ * Black Swiss * C57BL/6
MGI:97801  MP:0004686 decreased length of long bones PMID: 8662561 
Pth1rtm2Hmk|Tg(Col2a1-cre)1Rsjo Pth1rtm2Hmk/Pth1rtm2Hmk,Tg(Col2a1-cre)1Rsjo/0
involves: 129S4/SvJae * C57BL/6 * FVB/N
MGI:2450251  MGI:97801  MP:0006396 decreased long bone epiphyseal plate size PMID: 12050144 
Pth1rtm1Hmk|Pth1rtm2Hmk|Pthlh+|Pthlhtm1Hmk|Tg(Bglap2-cre)1Kry Pthlhtm1Hmk/Pthlh+,Pth1rtm1Hmk/Pth1rtm2Hmk,Tg(Bglap2-cre)1Kry/0
involves: 129S2/SvPas * 129S4/SvJae * C57BL/6 * FVB
MGI:3041871  MGI:97800  MGI:97801  MP:0006396 decreased long bone epiphyseal plate size PMID: 15951842 
Pth1rtm1Hmk Pth1rtm1Hmk/Pth1rtm1Hmk
involves: 129X1/SvJ * Black Swiss * C57BL/6
MGI:97801  MP:0000440 domed cranium PMID: 8662561 
Pth1rtm1Abas Pth1rtm1Abas/Pth1rtm1Abas
B6.Cg-Pth1r
MGI:97801  MP:0000194 hypercalcemia PMID: 16840548 
Pth1rtm1Hmk|Pth1rtm2Hmk|Tg(Bglap2-cre)1Kry Pth1rtm1Hmk/Pth1rtm2Hmk,Tg(Bglap2-cre)1Kry/0
involves: 129S4/SvJae * C57BL/6 * FVB
MGI:3041871  MGI:97801  MP:0006398 increased long bone epiphyseal plate size PMID: 15951842 
Ihh+|Ihhtm1Amc|Pth1rtm1Hmk|Pth1rtm2Hmk|Tg(Bglap2-cre)1Kry Ihhtm1Amc/Ihh+,Pth1rtm1Hmk/Pth1rtm2Hmk,Tg(Bglap2-cre)1Kry/0
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * FVB
MGI:3041871  MGI:96533  MGI:97801  MP:0006398 increased long bone epiphyseal plate size PMID: 15951842 
Pth1rtm1Hmk Pth1rtm1Hmk/Pth1rtm1Hmk
involves: 129X1/SvJ * C57BL/6
MGI:97801  MP:0006208 lethality throughout fetal growth and development PMID: 8662561 
Pth1rtm1Hmk|Pth1rtm3Hmk Pth1rtm1Hmk/Pth1rtm3Hmk
involves: 129S4/SvJae * C57BL/6
MGI:97801  MP:0004357 long tibia PMID: 12050144 
Pth1rtm1Hmk|Pth1rtm2Hmk|Pthlhtm1Hmk|Tg(Bglap2-cre)1Kry|Tg(Col2a1-PTHLH)1Ecw Pthlhtm1Hmk/Pthlhtm1Hmk,Pth1rtm1Hmk/Pth1rtm2Hmk,Tg(Bglap2-cre)1Kry/0,Tg(Col2a1-PTHLH)1Ecw/0
involves: 129S2/SvPas * 129S4/SvJae * C57BL/6 * FVB * SJL
MGI:2388103  MGI:3041871  MGI:97800  MGI:97801  MP:0004357 long tibia PMID: 15951842 
Pth1rtm1Hmk Pth1rtm1Hmk/Pth1rtm1Hmk
involves: 129X1/SvJ * Black Swiss * C57BL/6
MGI:97801  MP:0002081 perinatal lethality PMID: 8662561 
Pth1rtm1Hmk|Pth1rtm3Hmk Pth1rtm1Hmk/Pth1rtm3Hmk
involves: 129S4/SvJae * C57BL/6
MGI:97801  MP:0001732 postnatal growth retardation PMID: 12050144 
Pth1rtm1Hmk Pth1rtm1Hmk/Pth1rtm1Hmk
involves: 129X1/SvJ * C57BL/6 * MF1
MGI:97801  MP:0002080 prenatal lethality PMID: 8662561 
Pth1rtm1Hmk Pth1rtm1Hmk/Pth1rtm1Hmk
involves: 129X1/SvJ * Black Swiss * C57BL/6
MGI:97801  MP:0009908 protruding tongue PMID: 8662561 
Pth1rtm1Hmk Pth1rtm1Hmk/Pth1rtm1Hmk
involves: 129X1/SvJ * Black Swiss * C57BL/6
MGI:97801  MP:0000547 short limbs PMID: 8662561 
Pth1rtm1Hmk Pth1rtm1Hmk/Pth1rtm1Hmk
involves: 129X1/SvJ * Black Swiss * C57BL/6
MGI:97801  MP:0000088 short mandible PMID: 8662561 
Pth1rtm1Hmk Pth1rtm1Hmk/Pth1rtm1Hmk
involves: 129X1/SvJ * Black Swiss * C57BL/6
MGI:97801  MP:0000445 short snout PMID: 8662561 
Pth1rtm1Hmk|Pth1rtm2Hmk|Pthlhtm1Hmk|Tg(Col2a1-PTHLH)1Ecw Pthlhtm1Hmk/Pthlhtm1Hmk,Pth1rtm1Hmk/Pth1rtm2Hmk,Tg(Col2a1-PTHLH)1Ecw/0
involves: 129S2/SvPas * 129S4/SvJae * C57BL/6 * SJL
MGI:2388103  MGI:97800  MGI:97801  MP:0002764 short tibia PMID: 15951842 
Clinically-Relevant Mutations and Pathophysiology
Disease:  Ollier disease
OMIM:  166000
Orphanet:  163634, 296
Comments: 
References:  12,31,50,62
Click column headers to sort
Type Species Molecular location Description Reference
single nucleotide polymorphism Human R150C 31,50,62
Disease:  Primary failure of tooth eruption
OMIM:  125350
Orphanet:  1077
References:  19
Mutations not determined
Disease:  Eiken syndrome
OMIM:  600002
Orphanet:  79106
Comments: 
References:  14
Mutations not determined
Disease:  Maffucci syndrome
OMIM:  166000
Orphanet:  163634, 296
Comments: 
References: 
Mutations not determined
Disease:  Jansen’s metaphyseal chondrodysplasia
OMIM:  156400
Orphanet:  33067
Comments: 
References:  5,52,54-56
Click column headers to sort
Type Species Molecular location Description Reference
single nucleotide polymorphism Human I458R 55
single nucleotide polymorphism Human T410R 5
single nucleotide polymorphism Human T410P 52,55-56
single nucleotide polymorphism Human H223R 52,54-56
Disease:  Chondrodysplasia, Blomstrand type
OMIM:  215045
Orphanet:  50945
Comments: 
References:  30,34,37-38,72
Click column headers to sort
Type Species Molecular location Description Reference
Deletion Human Exon M5 34
Frameshift Human Exon EL2 38
single nucleotide polymorphism Human P132L 30,37,72
Biologically Significant Variants
Type:  Tetranucleotide repeat.
Species:  Human
Description:  An (AAAG)n polymorphism has been found in the P3 promoter region of the PTH1 gene of Japanese and Caucasian populations. This polymporphism is associated with reduced promoter activity and altered bone development.
References:  44,60
Type:  Single nucleotide polymorphism.
Species:  Human
Description:  A C/T polymorphism in the PTH1 receptor gene has been found to be linked to the extent of bone mass reduction in primary hyperparathyroidism.
References:  36
Type:  Single nucleotide polymorphism.
Species:  Human
Description:  Single nucleotide polymorphisms and haplotypes in the PTHR1 gene have been identified and linked to changes in bone mineral density and height.
References:  73
General Comments
See [51] for a study describing the molecular modelling of the interaction between PTH and the PTH1 and PTH2 receptors.
Available Assays
DiscoveRx PathHunter® CHO-K1 PTHR1 β-Arrestin Cell Line (Cat no. 93-0315C2)
PathHunter® eXpress PTHR1 CHO-K1 β-Arrestin GPCR Assay (Cat no. 93-0315E2CP0M)
more info

REFERENCES

1. Abou-Samra AB, Jüppner H, Force T, Freeman MW, Kong XF, Schipani E, Urena P, Richards J, Bonventre JV, Potts Jr JT et al.. (1992) Expression cloning of a common receptor for parathyroid hormone and parathyroid hormone-related peptide from rat osteoblast-like cells: a single receptor stimulates intracellular accumulation of both cAMP and inositol trisphosphates and increases intracellular free calcium. Proc. Natl. Acad. Sci. U.S.A.89 (7): 2732-6. [PMID:1313566]

2. Abou-Samra AB, Jüppner H, Khalifa A, Karga H, Kong XF, Schiffer-Alberts D, Xie LY, Segre GV. (1993) Parathyroid hormone (PTH) stimulates adrenocorticotropin release in AtT-20 cells stably expressing a common receptor for PTH and PTH-related peptide. Endocrinology132: 801-805. [PMID:7678801]

3. Amizuka N, Henderson JE, White JH, Karaplis AC, Goltzman D, Sasaki T, Ozawa H. (2000) Recent studies on the biological action of parathyroid hormone (PTH)-related peptide (PTHrP) and PTH/PTHrP receptor in cartilage and bone. Histol Histopathol15: 957-970. [PMID:10963138]

4. Barrett MG, Belinsky GS, Tashjian AH. (1997) A new action of parathyroid hormone. receptor-mediated stimulation of extracellular acidification in human osteoblast-like SaOS-2 cells. J Biol Chem272: 26346-26353. [PMID:9334207]

5. Bastepe M, Raas-Rothschild A, Silver J, Weissman I, Wientroub S, Jüppner H, Gillis D. (2004) A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation. J Clin Endocrinol Metab89: 3595-3600. [PMID:15240651]

6. Behar V, Nakamoto C, Greenberg Z, Bisello A, Suva LJ, Rosenblatt M, Chorev M. (1996) Histidine at position 5 is the specificity "switch" between two parathyroid hormone receptor subtypes. Endocrinology137: 4217-4224. [PMID:8828480]

7. Bergwitz C, Jusseaume SA, Luck MD, Jüppner H, Gardella TJ. (1997) Residues in the membrane-spanning and extracellular loop regions of the parathyroid hormone (PTH)-2 receptor determine signaling selectivity for PTH and PTH-related peptide. J Biol Chem272: 28861-28868. [PMID:9360953]

8. Bounoutas GS, Tawfeek H, Fröhlich LF, Chung UI, Abou-Samra AB. (2006) Impact of impaired receptor internalization on calcium homeostasis in knock-in mice expressing a phosphorylation-deficient parathyroid hormone (PTH)/PTH-related peptide receptor. Endocrinology147: 4674-4679. [PMID:16840548]

9. Calvi LM, Sims NA, Hunzelman JL, Knight MC, Giovannetti A, Saxton JM, Kronenberg HM, Baron R, Schipani E. (2001) Activated parathyroid hormone/parathyroid hormone-related protein receptor in osteoblastic cells differentially affects cortical and trabecular bone. J Clin Invest107: 277-286. [PMID:11160151]

10. Carter PH, Jüppner H, Gardella TJ. (1999) Studies of the N-terminal region of a parathyroid hormone-related peptide (1-36) analog: receptor subtype-selective agonists, antagonists, and photochemical cross-linking agents. Endocrinology140: 4972-4981. [PMID:10537121]

11. Clark JA, Bonner TI, Kim AS, Usdin TB. (1998) Multiple regions of ligand discrimination revealed by analysis of chimeric parathyroid hormone 2 (PTH2) and PTH/PTH-related peptide (PTHrP) receptors. Mol Endocrinol12: 193-206. [PMID:9482662]

12. Couvineau A, Wouters V, Bertrand G, Rouyer C, Gérard B, Boon LM, Grandchamp B, Vikkula M, Silve C. (2008) PTHR1 mutations associated with Ollier disease result in receptor loss of function. Hum. Mol. Genet.17 (18): 2766-75. [PMID:18559376]

13. Diamond AG, Gonterman RM, Anderson AL, Menon K, Offutt CD, Weaver CH, Philbrick WM, Foley J. (2006) Parathyroid hormone hormone-related protein and the PTH receptor regulate angiogenesis of the skin. J Invest Dermatol126: 2127-2134. [PMID:16675960]

14. Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C. (2005) Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. Hum Mol Genet14: 1-5. [PMID:15525660]

15. Eggenberger M, Flühmann B, Muff R, Lauber M, Lichtensteiger W, Hunziker W, Fischer JA, Born W. (1996) Structure of a parathyroid hormone/parathyroid hormone-related peptide receptor of the human cerebellum and functional expression in human neuroblastoma SK-N-MC cells. Brain Res Mol Brain Res36: 127-136. [PMID:9011748]

16. Endlich N, Nobiling R, Kriz W, Endlich K. (2001) Expression and signaling of parathyroid hormone-related protein in cultured podocytes. Exp Nephrol9: 436-443. [PMID:11702004]

17. Esbrit P, Benítez-Verguizas J, de Miguel F, Valín A, García-Ocaña A. (2000) Characterization of parathyroid hormone/parathyroid hormone-related protein receptor and signaling in hypercalcemic Walker 256 tumor cells. J Endocrinol166: 11-20. [PMID:10856878]

18. Fermor B, Skerry TM. (1995) PTH/PTHrP receptor expression on osteoblasts and osteocytes but not resorbing bone surfaces in growing rats. J Bone Miner Res10: 1935-1943. [PMID:8619374]

19. Frazier-Bowers SA, Simmons D, Wright JT, Proffit WR, Ackerman JL. (2010) Primary failure of eruption and PTH1R: the importance of a genetic diagnosis for orthodontic treatment planning. Am J Orthod Dentofacial Orthop137 (2): 160.e1-7; discussion 160-1. [PMID:20152661]

20. Gardella TJ, Jüppner H, Wilson AK, Keutmann HT, Abou-Samra AB, Segre GV, Bringhurst FR, Potts JT, Nussbaum SR, Kronenberg HM. (1994) Determinants of [Arg2]PTH-(1-34) binding and signaling in the transmembrane region of the parathyroid hormone receptor. Endocrinology135: 1186-1194. [PMID:8070362]

21. Gardella TJ, Luck MD, Fan MH, Lee C. (1996) Transmembrane residues of the parathyroid hormone (PTH)/PTH-related peptide receptor that specifically affect binding and signaling by agonist ligands. J Biol Chem271: 12820-12825. [PMID:8662729]

22. Gardella TJ, Luck MD, Jensen GS, Usdin TB, Jüppner H. (1996) Converting parathyroid hormone-related peptide (PTHrP) into a potent PTH-2 receptor agonist. J Biol Chem271: 19888-19893. [PMID:8702701]

23. Gardella TJ, Luck MD, Wilson AK, Keutmann HT, Nussbaum SR, Potts JT, Kronenberg HM. (1995) Parathyroid hormone (PTH)-PTH-related peptide hybrid peptides reveal functional interactions between the 1-14 and 15-34 domains of the ligand. J Biol Chem270: 6584-6588. [PMID:7896796]

24. Gelbert L, Schipani E, Jüppner H, Abou-Samra AB, Segre GV, Naylor S, Drabkin H, Heath H. (1994) Chromosomal localization of the parathyroid hormone/parathyroid hormone-related protein receptor gene to human chromosome 3p21.1-p24.2. J Clin Endocrinol Metab79: 1046-1048. [PMID:7962272]

25. Gessi M, Monego G, Lauriola L, Maggiano N, Ranelletti FO. (2005) Parathyroid hormone-related peptide (hPTHrP) and parathyroid hormone-related peptide receptor type 1 (PTHR1) expression in human thymus. J Histochem Cytochem53: 955-962. [PMID:15879577]

26. Gesty-Palmer D, Chen M, Reiter E, Ahn S, Nelson CD, Wang S, Eckhardt AE, Cowan CL, Spurney RF, Luttrell LM, Lefkowitz RJ. (2006) Distinct beta-arrestin- and G protein-dependent pathways for parathyroid hormone receptor-stimulated ERK1/2 activation. J Biol Chem281: 10856-10864. [PMID:16492667]

27. Guo J, Iida-Klein A, Huang X, Abou-Samra AB, Segre GV, Bringhurst FR. (1995) Parathyroid hormone (PTH)/PTH-related peptide receptor density modulates activation of phospholipase C and phosphate transport by PTH in LLC-PK1 cells. Endocrinology136: 3884-3891. [PMID:7649096]

28. Hoare SR, Clark JA, Usdin TB. (2000) Molecular determinants of tuberoinfundibular peptide of 39 residues (TIP39) selectivity for the parathyroid hormone-2 (PTH2) receptor. N-terminal truncation of TIP39 reverses PTH2 receptor/PTH1 receptor binding selectivity. J Biol Chem275: 27274-27283. [PMID:10854439]

29. Hoare SR, Usdin TB. (2000) Tuberoinfundibular peptide (7-39) [TIP(7-39)], a novel, selective, high-affinity antagonist for the parathyroid hormone-1 receptor with no detectable agonist activity. J Pharmacol Exp Ther295: 761-770. [PMID:11046116]

30. Hoogendam J, Farih-Sips H, Wynaendts LC, Löwik CW, Wit JM, Karperien M. (2006) Novel mutations in the PTHR1 causing Blomstrand osteochondrodysplasia type I and II. J Clin Endocrinol Metab, : -. [PMID:17164305]

31. Hopyan S, Gokgoz N, Poon R, Gensure RC, Yu C, Cole WG, Bell RS, Jüppner H, Andrulis IL, Wunder JS, Alman BA. (2002) A mutant PTH/PTHrP type I receptor in enchondromatosis. Nat Genet30: 306-310. [PMID:11850620]

32. Iida-Klein A, Guo J, Takemura M, Drake MT, Potts JT, Abou-Samra A, Bringhurst FR, Segre GV. (1997) Mutations in the second cytoplasmic loop of the rat parathyroid hormone (PTH)/PTH-related protein receptor result in selective loss of PTH-stimulated phospholipase C activity. J Biol Chem272: 6882-6889. [PMID:9054374]

33. Jobert AS, Leroy C, Butlen D, Silve C. (1997) Parathyroid hormone-induced calcium release from intracellular stores in a human kidney cell line in the absence of stimulation of cyclic adenosine 3',5'-monophosphate production. Endocrinology138: 5282-5292. [PMID:9389512]

34. Jobert AS, Zhang P, Couvineau A, Bonaventure J, Roume J, Le Merrer M, Silve C. (1998) Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. J Clin Invest102: 34-40. [PMID:9649554]

35. Jonsson KB, John MR, Gensure RC, Gardella TJ, Jüppner H. (2001) Tuberoinfundibular peptide 39 binds to the parathyroid hormone (PTH)/PTH-related peptide receptor, but functions as an antagonist. Endocrinology142: 704-709. [PMID:11159842]

36. Kanzawa M, Sugimoto T, Kobayashi T, Kobayashi A, Chihara K. (2000) Association between parathyroid hormone (PTH)/PTH-related peptide receptor gene polymorphism and the extent of bone mass reduction in primary hyperparathyroidism. Horm Metab Res32: 355-358. [PMID:11014383]

37. Karaplis AC, He B, Nguyen MT, Young ID, Semeraro D, Ozawa H, Amizuka N. (1998) Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia. Endocrinology139: 5255-5258. [PMID:9832466]

38. Karperien M, van der Harten HJ, van Schooten R, Farih-Sips H, den Hollander NS, Kneppers SL, Nijweide P, Papapoulos SE, Löwik CW. (1999) A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia. J Clin Endocrinol Metab84: 3713-3720. [PMID:10523019]

39. Kronenberg HM, Lanske B, Kovacs CS, Chung UI, Lee K, Segre GV, Schipani E, Jüppner H. (1998) Functional analysis of the PTH/PTHrP network of ligands and receptors. Recent Prog Horm Res53: 283-301. [PMID:9769712]

40. Langub MC, Monier-Faugere MC, Qi Q, Geng Z, Koszewski NJ, Malluche HH. (2001) Parathyroid hormone/parathyroid hormone-related peptide type 1 receptor in human bone. J Bone Miner Res16: 448-456. [PMID:11277262]

41. Lanske B, Karaplis AC, Lee K, Luz A, Vortkamp A, Pirro A, Karperien M, Defize LH, Ho C, Mulligan RC, Abou-Samra AB, Jüppner H, Segre GV, Kronenberg HM. (1996) PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth. Science273: 663-666. [PMID:8662561]

42. Lossdörfer S, Götz W, Rath-Deschner B, Jäger A. (2006) Parathyroid hormone(1-34) mediates proliferative and apoptotic signaling in human periodontal ligament cells in vitro via protein kinase C-dependent and protein kinase A-dependent pathways. Cell Tissue Res325: 469-479. [PMID:16670921]

43. 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 A91: 5051-5055. [PMID:8197183]

44. Minagawa M, Yasuda T, Watanabe T, Minamitani K, Takahashi Y, Goltzman D, White JH, Hendy GN, Kohno Y. (2002) Association between AAAG repeat polymorphism in the P3 promoter of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene and adult height, urinary pyridinoline excretion, and promoter activity. J Clin Endocrinol Metab87: 1791-1796. [PMID:11932319]

45. 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: 566-574. [PMID:8732687]

46. Okazaki M, Ferrandon S, Vilardaga JP, Bouxsein ML, Potts JT, Gardella TJ. (2008) Prolonged signaling at the parathyroid hormone receptor by peptide ligands targeted to a specific receptor conformation. Proc. Natl. Acad. Sci. U.S.A.105 (43): 16525-30. [PMID:18946036]

47. Pines M, Fukayama S, Costas K, Meurer E, Goldsmith PK, Xu X, Muallem S, Behar V, Chorev M, Rosenblatt M, Tashjian AH, Suva LJ. (1996) Inositol 1-,4-,5-trisphosphate-dependent Ca2+ signaling by the recombinant human PTH/PTHrP receptor stably expressed in a human kidney cell line. Bone18: 381-389. [PMID:8726398]

48. Pioszak AA, Xu HE. (2008) Molecular recognition of parathyroid hormone by its G protein-coupled receptor. Proc Natl Acad Sci U S A105: 5034-5039. [PMID:18375760]

49. Plati J, Tsomaia N, Piserchio A, Mierke DF. (2006) STRUCTURAL FEATURES OF PARATHYROID HORMONE RECEPTOR COUPLED TO G{alpha}s-PROTEIN. Biophys J, : -. [PMID:17040990]

50. Rozeman LB, Sangiorgi L, Briaire-de Bruijn IH, Mainil-Varlet P, Bertoni F, Cleton-Jansen AM, Hogendoorn PC, Bovée JV. (2004) Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. Hum Mutat24: 466-473. [PMID:15523647]

51. Rölz C, Pellegrini M, Mierke DF. (1999) Molecular characterization of the receptor-ligand complex for parathyroid hormone. Biochemistry38 (20): 6397-405. [PMID:10350457]

52. Schipani E, Jensen GS, Pincus J, Nissenson RA, Gardella TJ, Jüppner H. (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 Endocrinol11: 851-858. [PMID:9178745]

53. Schipani E, Karga H, Karaplis AC, Potts JT, Kronenberg HM, Segre GV, Abou-Samra AB, Jüppner H. (1993) Identical complementary deoxyribonucleic acids encode a human renal and bone parathyroid hormone (PTH)/PTH-related peptide receptor. Endocrinology132: 2157-2165. [PMID:8386612]

54. Schipani E, Kruse K, Jüppner H. (1995) A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science268: 98-100. [PMID:7701349]

55. Schipani E, Langman C, Hunzelman J, Le Merrer M, Loke KY, Dillon MJ, Silve C, Jüppner H. (1999) A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia. J Clin Endocrinol Metab84: 3052-3057. [PMID:10487664]

56. Schipani E, Langman CB, Parfitt AM, Jensen GS, Kikuchi S, Kooh SW, Cole WG, Jüppner H. (1996) Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. N Engl J Med335: 708-714. [PMID:8703170]

57. Schneider H, Feyen JH, Seuwen K. (1994) A C-terminally truncated human parathyroid hormone receptor is functional and activates multiple G proteins. FEBS Lett351: 281-285. [PMID:8082781]

58. Schneider H, Feyen JH, Seuwen K, Movva NR. (1993) Cloning and functional expression of a human parathyroid hormone receptor. Eur J Pharmacol.146: 149-155. [PMID:8397094]

59. Schwindinger WF, Fredericks J, Watkins L, Robinson H, Bathon JM, Pines M, Suva LJ, Levine MA. (1998) Coupling of the PTH/PTHrP receptor to multiple G-proteins. Direct demonstration of receptor activation of Gs, Gq/11, and Gi(1) by [alpha-32P]GTP-gamma-azidoanilide photoaffinity labeling. Endocrine8: 201-209. [PMID:9704578]

60. Scillitani A, Jang C, Wong BY, Hendy GN, Cole DE. (2006) A functional polymorphism in the PTHR1 promoter region is associated with adult height and BMD measured at the femoral neck in a large cohort of young caucasian women. Hum Genet119: 416-421. [PMID:16508749]

61. Seuwen K, Boddeke HG. (1995) Heparin-insensitive calcium release from intracellular stores triggered by the recombinant human parathyroid hormone receptor. Br J Pharmacol114: 1613-1620. [PMID:7599930]

62. Silve C, Jüppner H. (2006) Ollier disease. Orphanet J Rare Dis1: 37-37. [PMID:16995932]

63. Soegiarto DW, Kiachopoulos S, Schipani E, Jüppner H, Erben RG, Lanske B. (2001) Partial rescue of PTH/PTHrP receptor knockout mice by targeted expression of the Jansen transgene. Endocrinology142: 5303-5310. [PMID:11713230]

64. Takasu H, Bringhurst FR. (1998) Type-1 parathyroid hormone (PTH)/PTH-related peptide (PTHrP) receptors activate phospholipase C in response to carboxyl-truncated analogs of PTH(1-34). Endocrinology139: 4293-4299. [PMID:9751512]

65. Takasu H, Gardella TJ, Luck MD, Potts JT, Bringhurst FR. (1999) Amino-terminal modifications of human parathyroid hormone (PTH) selectively alter phospholipase C signaling via the type 1 PTH receptor: implications for design of signal-specific PTH ligands. Biochemistry38: 13453-13460. [PMID:10521252]

66. Takasu H, Guo J, Bringhurst FR. (1999) Dual signaling and ligand selectivity of the human PTH/PTHrP receptor. J Bone Miner Res14: 11-20. [PMID:9893061]

67. Tian J, Smogorzewski M, Kedes L, Massry SG. (1993) Parathyroid hormone-parathyroid hormone related protein receptor messenger RNA is present in many tissues besides the kidney. Am J Nephrol13: 210-213. [PMID:8213933]

68. Urena P, Kong XF, Abou-Samra AB, Jüppner H, Kronenberg HM, Potts JT, Segre GV. (1993) Parathyroid hormone (PTH)/PTH-related peptide receptor messenger ribonucleic acids are widely distributed in rat tissues. Endocrinology133: 617-623. [PMID:8393771]

69. Watson PH, Fraher LJ, Hendy GN, Chung UI, Kisiel M, Natale BV, Hodsman AB. (2000) Nuclear localization of the type 1 PTH/PTHrP receptor in rat tissues. J Bone Miner Res15: 1033-1044. [PMID:10841172]

70. Watson PH, Fraher LJ, Kisiel M, DeSousa D, Hendy G, Hodsman AB. (1999) Enhanced osteoblast development after continuous infusion of hPTH(1-84) in the rat. Bone24: 89-94. [PMID:9951775]

71. Yang T, Hassan S, Huang YG, Smart AM, Briggs JP, Schnermann JB. (1997) Expression of PTHrP, PTH/PTHrP receptor, and Ca(2+)-sensing receptor mRNAs along the rat nephron. Am J Physiol272: F751-F758. [PMID:9227636]

72. 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 Metab83: 3365-3368. [PMID:9745456]

73. Zhang YY, Liu PY, Lu Y, Xiao P, Liu YJ, Long JR, Shen H, Zhao LJ, Elze L, Recker RR, Deng HW. (2006) Tests of linkage and association of PTH/PTHrP receptor type 1 gene with bone mineral density and height in Caucasians. J Bone Miner Metab24: 36-41. [PMID:16369896]

To cite this database page, please use the following:

Ted B. Usdin, Alessandro Bisello, Michael Chorev, Peter A. Friedman, Tom Gardella, Harald Jueppner, T. John Martin, Robert A. Nissenson, John Thomas Potts, Jr., Caroline Silve, Jean-Pierre Vilardaga, Rebecca Hills.
Parathyroid hormone receptors: PTH1 receptor. Last modified on 17/03/2014. Accessed on 20/10/2014. IUPHAR database (IUPHAR-DB), http://www.iuphar-db.org/DATABASE/ObjectDisplayForward?objectId=331.

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