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PTH1 receptor

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Target not currently curated in GtoImmuPdb

Target id: 331

Nomenclature: PTH1 receptor

Family: Parathyroid hormone receptors

Contents:

Gene and Protein Information Click here for help
class B G protein-coupled receptor
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 7 593 3p21.31 PTH1R parathyroid hormone 1 receptor 17,27,57,62
Mouse 7 591 9 60.56 cM Pth1r parathyroid hormone 1 receptor 46
Rat 7 591 8q32 Pth1r parathyroid hormone 1 receptor 1
Previous and Unofficial Names Click here for help
PPR [24] | PTHR | PTHR1
Database Links Click here for help
Specialist databases
GPCRdb pth1r_human (Hs), pth1r_mouse (Mm), pth1r_rat (Rn)
Other databases
Alphafold Q03431 (Hs), P41593 (Mm), P25961 (Rn)
CATH/Gene3D 4.10.1240.10
ChEMBL Target CHEMBL1793 (Hs), CHEMBL1075300 (Mm), CHEMBL6038 (Rn)
Ensembl Gene ENSG00000160801 (Hs), ENSMUSG00000032492 (Mm), ENSRNOG00000020948 (Rn)
Entrez Gene 5745 (Hs), 19228 (Mm), 56813 (Rn)
Human Protein Atlas ENSG00000160801 (Hs)
KEGG Gene hsa:5745 (Hs), mmu:19228 (Mm), rno:56813 (Rn)
OMIM 168468 (Hs)
Orphanet ORPHA118140 (Hs)
Pharos Q03431 (Hs)
RefSeq Nucleotide NM_000316 (Hs), NM_011199 (Mm), NM_020073 (Rn)
RefSeq Protein NP_000307 (Hs), NP_035329 (Mm), NP_064458 (Rn)
UniProtKB Q03431 (Hs), P41593 (Mm), P25961 (Rn)
Wikipedia PTH1R (Hs)
Selected 3D Structures Click here for help
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:  52
Image of receptor 3D structure from RCSB PDB
Description:  High resolution crystal structure of parathyroid hormone 1 receptor in complex with a peptide agonist (PTH mimetic agonist, termed ePTH)
PDB Id:  6FJ3
Resolution:  2.5Å
Species:  Human
References:  18
Natural/Endogenous Ligands Click here for help
PTH {Sp: Human} , PTH {Sp: Mouse} , PTH {Sp: Rat}
PTHrP-(1-36) {Sp: Human}
PTHrP {Sp: Human}
TIP39 {Sp: Human, Bovine}
Comments: Other endogenous fragments of parathyroid hormone-related protein precursor are PTHrP-(107-139) (human)/PTHrP-(107-139) (mouse)/PTHrP-(107-139) (rat) and PTHrP-(38-94).
Potency order of endogenous ligands (Human)
PTH (PTH, P01270) = PTHrP (PTHLH, P12272)

Download all structure-activity data for this target as a CSV file go icon to follow link

Agonists
Key to terms and symbols View all chemical structures Click column headers to sort
Ligand Sp. Action Value Parameter Reference
[125I][Nle8,21,Tyr34]PTH-(1-34)-NH2 (rat) Peptide Click here for species-specific activity table Ligand is labelled Ligand is radioactive Hs Full agonist 8.0 pKd 9
⤷ pKd 8.0 [9]
PCO371 Small molecule or natural product Ligand has a PDB structure Hs Agonist 5.4 pEC50 48
⤷ pEC50 5.4 (EC50 4.1x10-6 M) [48]
[Ala1,12,Aib3,Gln10,hArg11,Trp14,Arg19]PTH-(1-34)-NH2 Peptide Hs Full agonist 8.7 pIC50 50
⤷ pIC50 8.7 [50]
[Arg19]PTH-(1-34) (human) Peptide Rn Full agonist 8.6 pIC50 26
⤷ pIC50 8.6 [26]
[Ala1,12,Aib3,Gln10,hArg11,Trp14,Arg19]PTH-(1-28)-NH2 (human) Peptide Hs Full agonist 8.6 pIC50 50
⤷ pIC50 8.6 [50]
[Ile5]PTHrP-(1-34) (human) Peptide Rn Full agonist 8.4 pIC50 26
⤷ pIC50 8.4 [26]
teriparatide Peptide Approved drug Click here for species-specific activity table Rn Full agonist 8.1 – 8.7 pIC50 26
⤷ pIC50 8.1 – 8.7 [26]
[Tyr34]PTH-(1-34) (human) Peptide Hs Full agonist 8.1 – 8.5 pIC50 38
⤷ pIC50 8.1 – 8.5 [38]
[Tyr34]PTH-(1-34)-NH2 (human) Peptide Rn Full agonist 8.2 pIC50 24
⤷ pIC50 8.2 [24]
[Nle8,18,Tyr34]PTH-(1-34)-NH2 (bovine) Peptide Rn Full agonist 8.1 pIC50 24
⤷ pIC50 8.1 [24]
[Ile5,Glu19]PTHrP-(1-34) (human) Peptide Rn Full agonist 8.0 pIC50 26
⤷ pIC50 8.0 [26]
[Nle8,18,Tyr34]PTH-(3-34)-NH2 (bovine) Peptide Rn Full agonist 8.0 pIC50 24
⤷ pIC50 8.0 [24]
PTHrP-(1-34) (human) Peptide Click here for species-specific activity table Rn Full agonist 7.8 – 8.1 pIC50 26
⤷ pIC50 7.8 – 8.1 [26]
[Ile5,Trp23]PTHrP-(3-36) (human) Peptide Click here for species-specific activity table Hs Full agonist 7.8 pIC50 12
⤷ pIC50 7.8 [12]
[Ile5,Val21]PTHrP-(1-34) (human) Peptide Rn Full agonist 7.8 pIC50 26
⤷ pIC50 7.8 [26]
[Tyr34]PTH-(3-34)-NH2 (human) Peptide Rn Full agonist 7.8 pIC50 24
⤷ pIC50 7.8 [24]
PTHrP-(1-20)/TIP-(23-39) (human) Peptide Hs Full agonist 7.5 – 8.0 pIC50 38
⤷ pIC50 7.5 – 8.0 [38]
PTHrP-(1-21)/PTH-(22-34) (human) Peptide Click here for species-specific activity table Hs Full agonist 7.7 pIC50 25
⤷ pIC50 7.7 [25]
[Ile5,Trp23]PTHrP-(1-36) (human) Peptide Click here for species-specific activity table Hs Full agonist 7.4 – 7.8 pIC50 12,25
⤷ pIC50 7.4 – 7.8 [12,25]
[Ile5,Trp23]PTHrP-(2-36) (human) Peptide Click here for species-specific activity table Hs Full agonist 7.6 pIC50 12
⤷ pIC50 7.6 [12]
[Ile5,Trp23,Tyr36]PTHrP-(1-36)-NH2 (human) Peptide Click here for species-specific activity table Hs Full agonist 7.5 pIC50 9
⤷ pIC50 7.5 [9]
[Ile5,Glu19,Val21]PTHrP-(1-34) (human) Peptide Rn Full agonist 7.4 pIC50 26
⤷ pIC50 7.4 [26]
[Ile5,Trp23]PTHrP-(4-36) (human) Peptide Click here for species-specific activity table Hs Full agonist 7.4 pIC50 12
⤷ pIC50 7.4 [12]
[Ile5]PTHrP-(1-36) (human) Peptide Hs Full agonist 7.4 pIC50 25
⤷ pIC50 7.4 [25]
teriparatide Peptide Approved drug Primary target of this compound Click here for species-specific activity table Hs Full agonist 7.4 pIC50 25
⤷ pIC50 7.4 [25]
[Trp23]PTHrP-(1-36) (human) Peptide Click here for species-specific activity table Hs Full agonist 7.3 pIC50 25
⤷ pIC50 7.3 [25]
[Tyr36]-PTHrP-(1-36) amide (human) Peptide Hs Full agonist 7.1 – 7.4 pIC50 38
⤷ pIC50 7.1 – 7.4 [38]
PTH-(1-34) (rat) Peptide Click here for species-specific activity table Hs Full agonist 7.1 – 7.2 pIC50 12
⤷ pIC50 7.1 – 7.2 [12]
[Ala1,12,Aib3,Gln10,hArg11,Trp14,Arg19]PTH-(1-21)-NH2 (human) Peptide Hs Full agonist 7.1 pIC50 50
⤷ pIC50 7.1 [50]
[Phe23]PTH-(1-34) (human) Peptide Click here for species-specific activity table Hs Full agonist 7.0 pIC50 25
⤷ pIC50 7.0 [25]
[Trp23,Tyr36]PTHrP-(1-36)-NH2 (human) Peptide Click here for species-specific activity table Hs Full agonist 7.0 pIC50 9
⤷ pIC50 7.0 [9]
PTHrP-(1-36) {Sp: Human} Peptide Click here for species-specific activity table Ligand is endogenous in the given species Hs Full agonist 6.5 pIC50 25
⤷ pIC50 6.5 [25]
[His5,Arg19]PTH-(1-34) (human) Peptide Rn Full agonist 6.4 pIC50 26
⤷ pIC50 6.4 [26]
[His5]PTH-(1-34) (human) Peptide Click here for species-specific activity table Hs Full agonist 5.3 pIC50 25
⤷ pIC50 5.3 [25]
[His5]PTH-(1-34) (human) Peptide Rn Full agonist 5.1 pIC50 26
⤷ pIC50 5.1 [26]
[Ala1,12,Aib3,Gln10,hArg11,Trp14]PTH-(1-14)-NH2 Peptide Hs Full agonist 4.5 pIC50 50
⤷ pIC50 4.5 [50]
abaloparatide Peptide Approved drug Primary target of this compound Hs Agonist - - 5
⤷ [5]
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 View all chemical structures Click column headers to sort
Ligand Sp. Action Value Parameter Reference
TIP39-(7-39) (human/bovine) Peptide Click here for species-specific activity table Hs Antagonist 8.2 pIC50 32
⤷ pIC50 8.2 [32]
TIP39-(9-39) (human/bovine) Peptide Hs Antagonist 7.4 pIC50 38
⤷ pIC50 7.4 [38]
[D-Trp12,Tyr34]PTH-(7-34) (bovine) Peptide Click here for species-specific activity table Hs Antagonist 7.4 pIC50 32
⤷ pIC50 7.4 [32]
PTHrP-(7-34) (human, rat, mouse) Peptide Click here for species-specific activity table Hs Antagonist 7.2 pIC50 32
⤷ pIC50 7.2 [32]
TIP39-(3-39) (human/bovine) Peptide Hs Antagonist 7.0 – 7.2 pIC50 38
⤷ pIC50 7.0 – 7.2 [38]
DS69910557 Small molecule or natural product Hs Antagonist 7.1 pIC50 4
⤷ pIC50 7.1 (IC50 8x10-8 M) [4]
[Ile5,Trp23]PTHrP-(5-36) Peptide Click here for species-specific activity table Hs Antagonist 7.0 pIC50 12
⤷ pIC50 7.0 [12]
TIP39 {Sp: Human, Bovine} Peptide Click here for species-specific activity table Ligand is endogenous in the given species Hs Antagonist 6.6 – 7.2 pIC50 31,38
⤷ pIC50 6.6 – 7.2 [31,38]
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 Click here for help
Transducer Effector/Response
Gs family Adenylyl cyclase stimulation
References:  49,53,61,63
Secondary Transduction Mechanisms Click here for help
Transducer Effector/Response
Gq/G11 family Phospholipase C stimulation
References:  20,35,49,63
Tissue Distribution Click here for help
Bone: osteoclasts, osteoblasts, osteocytes, bone marrow.
Species:  Human
Technique:  In situ hybridisation histochemistry and immunohistochemistry.
References:  43
CNS: thymus.
Species:  Human
Technique:  RT-PCR.
References:  28
Kidney nephron: glomeruli, proximal convoluted and straight tubules, medullary and cortical thick ascending limbs, distal convoluted tubules.
Species:  Rat
Technique:  RT-PCR.
References:  75
Bone: osteoblasts, osteocytes.
Species:  Rat
Technique:  In situ hybridisation and autoradiography.
References:  21
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:  73
Kidney > heart, brain, spleen, lung, liver, skeletal muscle, testis.
Species:  Rat
Technique:  Northern blotting.
References:  71
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:  72
Expression Datasets Click here for help

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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 Click here for help
Measurement of cAMP levels in human podocytes endogenously expressing the PTH1 receptor.
Species:  Human
Tissue:  Podocytes.
Response measured:  Stimulation of cAMP accumulation.
References:  19
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:  13,17,57
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:  1,23
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:  68-70
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:  30,35,68-69
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:  8,36,51,65
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 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:  45
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:  45
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:  45
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:  6
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:  36
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:  29
Physiological Functions Click here for help
Bone formation and resorption.
Species:  Mouse
Tissue:  In vivo (bone).
References:  11
Stimulation of osteoblast development.
Species:  Rat
Tissue:  In vivo (bone).
References:  74
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:  15
Physiological Consequences of Altering Gene Expression Click here for help
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:  11
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:  67
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:  44
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:  10
PTH1 receptor knockout mice exhibit growth plate chondrodysplasia.
Species:  Mouse
Tissue: 
Technique:  Gene targeting in embryonic stem cells.
References:  42
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:  15
Phenotypes, Alleles and Disease Models Click here for help 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 Click here for help
Disease:  Chondrodysplasia, Blomstrand type; BOCD
Synonyms: Blomstrand lethal chondrodysplasia [Orphanet: ORPHA50945]
OMIM: 215045
Orphanet: ORPHA50945
Comments:  A G -> A polymorphism at position 1176 has been identified in humans. It results in the deletion of the first 11 amino acids of exon M5 (encoding the fifth transmembrane domain of the receptor), resulting from the use of a novel splice site created by the base substitution. This may be linked to Blomstrand chondrodysplasia (Jobert et al., 1998).

A frame-shift mutation resulting from a G nucleotide deletion in position 1122 has been identified in humans and may be linked to Blomstrand chondrodysplasia (Karperian et al., 1999). A homozygous point mutation in exon EL2 occurs in which a G nucleotide is deleted. the resulting frameshift causes a truncated protein exhibiting complete diversion from the wild-type amino acid sequence.

A Pro132 -> Leu polymorphism has been identified in humans and may be linked to Blomstrand chondrodysplasia (Hoogendam et al., 2006; Karaplis et al., 1998; Zhang et al., 1998).

Other mutations the PTHR1 gene, resulting in different levels of inactivation of the PTH1 receptor, have been linked to Blomstrand chondrodysplasia (Hoogendam et al., 2006).
References:  33,37,40-41,76
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Frameshift: Deletion Human 1122delG Exon EL2. Results in a prematurely truncated protein 41
Missense Human P132L 33,40,76
Splice site Human 11del 1176G>A The nucleotide substitution induces a splice site which causes the deletion of the first 11 amino acids of exon M5 37
Disease:  Dental ankylosis
Synonyms: Tooth ankylosis [Disease Ontology: DOID:12661]
Disease Ontology: DOID:12661
Orphanet: ORPHA1077
Disease:  Eiken syndrome
OMIM: 600002
Orphanet: ORPHA79106
Comments:  A truncation mutation in the cytoplasmic tail of the PTH1 receptor has been identified to cause Eiken syndrome.
References:  16
Disease:  Enchondromatosis, multiple, Ollier type
Synonyms: Dyschondroplasia
Enchondromatosis [Orphanet: ORPHA296] [Disease Ontology: DOID:4625]
Ollier disease
Osteochondromatosis
Disease Ontology: DOID:4625
OMIM: 166000
Orphanet: ORPHA296
Comments:  Ollier disease is a form of enchondromatosis. An Arg150 -> Cys polymorphism may be linked to Ollier disease. This has been disputed.
References:  14,34,54,66
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Missense Human R150C 34,54,66
Disease:  Failure of tooth eruption, primary; PFE
OMIM: 125350
References:  22
Disease:  Metaphyseal chondrodysplasia, Jansen type
Synonyms: Jansen's metaphyseal chondrodysplasia [Disease Ontology: DOID:0080020]
Disease Ontology: DOID:0080020
OMIM: 156400
Orphanet: ORPHA33067
Comments:  Several single nucleotide polymorphisms (listed below) have been identified in humans and may be linked to Jansen's metaphyseal chondrodysplasia
References:  7,56,58-60
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Missense Human H223R 56,58-60
Missense Human T410P 56,59-60
Missense Human T410R 7
Missense Human I458R 59
Biologically Significant Variants Click here for help
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:  47,64
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:  77
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:  39
General Comments
See [55] for a study describing the molecular modelling of the interaction between PTH and the PTH1 and PTH2 receptors.

References

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