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PTH1 receptor

Family: Parathyroid hormone receptors

Contents:
Gene and Protein Information
Previous and Unofficial Names
Database Links
Selected 3D Structures
Agonists
Antagonists
Transduction Mechanisms
Tissue Distribution
Expression Datasets
Functional Assays
Physiological Functions
Physiological Consequences of Altering Gene Expression
Phenotypes, Alleles and Disease Models
Clinically-Relevant Mutations and Pathophysiology
Biologically Significant Variants
General Comments
References
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 15,23,52,57
Mouse 7 591 9 F Pth1r parathyroid hormone 1 receptor 42
Rat 7 591 8q32 Pth1r parathyroid hormone 1 receptor 1
Previous and Unofficial Names
Names References
PPR 20
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 160 (Hs), 101423 (Rn)
DrugBank Target 5986 (Hs)
Ensembl ENSG00000160801 (Hs), ENSMUSG00000032492 (Mm), ENSRNOG00000020948 (Rn)
Entrez Gene 5745 (Hs), 19228 (Mm), 56813 (Rn)
GeneCards PTH1R (Hs)
GenitoUrinary Development Molecular Anatomy Project Pth1r (Mm)
HomoloGene 267 (Hs)
Human Protein Reference Database 01347 (Hs)
InterPro Q03431 (Hs), P41593 (Mm), P25961 (Rn)
KEGG Gene hsa:5745 (Hs), mmu:19228 (Mm), rno:56813 (Rn)
OMIM 168468 (Hs)
Orphanet Gene ORPHA118140 (Hs)
PharmGKB Gene PA164725206 (Hs), PA33953 (Hs)
PhosphoSitePlus Q03431 (Hs), P41593 (Mm), P25961 (Rn)
Protein Ontology (PRO) PRO:000013430 (Hs)
RefSeq Nucleotide NM_000316 (Hs), NM_011199 (Mm), NM_020073 (Rn)
RefSeq Protein NP_000307 (Hs), NP_035329 (Mm), NP_064458 (Rn)
TreeFam ENSG00000160801 (Hs), ENSMUSG00000032492 (Mm), ENSRNOG00000020948 (Rn)
UniGene Hs. 1019 (Hs)
UniProt Q03431 (Hs), P41593 (Mm), P25961 (Rn)
Wikipedia PTH1 receptor
Parathyroid hormone receptors
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:  47
Search for other structures on the PDB
Search by keyword: Parathyroid hormone receptors PTH1 receptor Search by accession number: P25961, Q03431, P41593
Natural/Endogenous Ligand(s)
PTH {Sp: Human} , PTH {Sp: Rat} , PTH {Sp: Mouse}
PTHrP {Sp: Human}
PTHrP-(1-36) {Sp: Human}
Rank order of potency (Human)
PTH = PTHrP
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
[Ala1,12,Aib3,Gln10,hArg11,Trp14,Arg19]PTH-(1-34)-NH2 Hs Full agonist 8.7 pIC50 45
[Ala1,12,Aib3,Gln10,hArg11,Trp14,Arg19]PTH-(1-28)-NH2 (human) Hs Full agonist 8.6 pIC50 45
[Arg19]PTH-(1-34) (human) Rn Full agonist 8.6 pIC50 22
[Ile5]PTHrP-(1-34) (human) Rn Full agonist 8.4 pIC50 22
PTH-(1-34) (human) Rn Full agonist 8.1 – 8.7 pIC50 22
[Tyr34]PTH-(1-34) (human) Hs Full agonist 8.1 – 8.5 pIC50 34
[Tyr34]PTH-(1-34)-NH2 (human) Rn Full agonist 8.2 pIC50 20
[Nle8,18,Tyr34]PTH-(1-34)-NH2 (bovine) Rn Full agonist 8.1 pIC50 20
[Ile5,Glu19]PTHrP-(1-34) (human) Rn Full agonist 8.0 pIC50 22
[Nle8,18,Tyr34]PTH-(3-34)-NH2 (bovine) Rn Full agonist 8.0 pIC50 20
PTHrP-(1-34) Rn Full agonist 7.8 – 8.1 pIC50 22
[Ile5,Trp23]PTHrP-(3-36) (human) Hs Full agonist 7.8 pIC50 10
[Ile5,Val21]PTHrP-(1-34) (human) Rn Full agonist 7.8 pIC50 22
[Tyr34]PTH-(3-34)-NH2 (human) Rn Full agonist 7.8 pIC50 20
PTHrP-(1-20)/TIP-(23-39) (human) Hs Full agonist 7.5 – 8.0 pIC50 34
PTHrP-(1-21)/PTH-(22-34) (human) Hs Full agonist 7.7 pIC50 21
[Ile5,Trp23]PTHrP-(1-36) (human) Hs Full agonist 7.4 – 7.8 pIC50 10,21
[Ile5,Trp23]PTHrP-(2-36) (human) Hs Full agonist 7.6 pIC50 10
[Ile5,Trp23,Tyr36]PTHrP-(1-36)-NH2 (human) Hs Full agonist 7.5 pIC50 7
[Ile5,Glu19,Val21]PTHrP-(1-34) (human) Rn Full agonist 7.4 pIC50 22
[Ile5]PTHrP-(1-36) (human) Hs Full agonist 7.4 pIC50 21
[Ile5,Trp23]PTHrP-(4-36) (human) Hs Full agonist 7.4 pIC50 10
PTH-(1-34) (human) Hs Full agonist 7.4 pIC50 21
[Trp23]PTHrP-(1-36) (human) Hs Full agonist 7.3 pIC50 21
[Tyr36]-PTHrP-(1-36) amide (human) Hs Full agonist 7.1 – 7.4 pIC50 34
PTH-(1-34) (rat) Hs Full agonist 7.1 – 7.2 pIC50 10
[Ala1,12,Aib3,Gln10,hArg11,Trp14,Arg19]PTH-(1-21)-NH2 (human) Hs Full agonist 7.1 pIC50 45
[Phe23]PTH-(1-34) (human) Hs Full agonist 7.0 pIC50 21
[Trp23,Tyr36]PTHrP-(1-36)-NH2 (human) Hs Full agonist 7.0 pIC50 7
PTHrP-(1-36) {Sp: Human} Hs Full agonist 6.5 pIC50 21
[His5,Arg19]PTH-(1-34) (human) Rn Full agonist 6.4 pIC50 22
[His5]PTH-(1-34) (human) Hs Full agonist 5.3 pIC50 21
[His5]PTH-(1-34) (human) Rn Full agonist 5.1 pIC50 22
[Ala1,12,Aib3,Gln10,hArg11,Trp14]PTH-(1-14)-NH2 Hs Full agonist 4.5 pIC50 45
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 21
TIP39-(7-39) (human/bovine) Hs Antagonist 8.2 pIC50 27
[D-Trp12,Tyr34]PTH-(7-34) (bovine) Hs Antagonist 7.4 pIC50 27
TIP39-(9-39) (human/bovine) Hs Antagonist 7.4 pIC50 34
PTHrP-(7-34) (human, rat, mouse) Hs Antagonist 7.2 pIC50 27
TIP39-(3-39) (human/bovine) Hs Antagonist 7.0 – 7.2 pIC50 34
[Ile5,Trp23]PTHrP-(5-36) Hs Antagonist 7.0 pIC50 10
TIP39 {Sp: Human, Bovine} Hs Antagonist 6.6 – 7.2 pIC50 28,34
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:  44,48,56,58
Secondary Transduction Mechanisms
Transducer Effector/Response
Gq/G11 family Phospholipase C stimulation
References:  17,31,44,58
Tissue Distribution
Bone: osteoclasts, osteoblasts, osteocytes, bone marrow.
Species:  Human
Technique:  In situ hybridisation histochemistry and immunohistochemistry.
References:  39
CNS: thymus.
Species:  Human
Technique:  RT-PCR.
References:  24
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:  68
Kidney nephron: glomeruli, proximal convoluted and straight tubules, medullary and cortical thick ascending limbs, distal convoluted tubules.
Species:  Rat
Technique:  RT-PCR.
References:  70
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:  67
Kidney > heart, brain, spleen, lung, liver, skeletal muscle, testis.
Species:  Rat
Technique:  Northern blotting.
References:  66
Bone: osteoblasts, osteocytes.
Species:  Rat
Technique:  In situ hybridisation and autoradiography.
References:  18
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 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:  11,15,52
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:  1,19
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:  63-65
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:  26,31,63-64
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:  6,32,46,60
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:  41
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:  41
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:  41
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:  32
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:  25
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:  69
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
PTH1 receptor knockout mice exhibit growth plate chondrodysplasia.
Species:  Mouse
Tissue: 
Technique:  Gene targeting in embryonic stem cells.
References:  38
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
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 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:  62
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:  40
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:  Maffucci syndrome
OMIM:  166000
Orphanet:  163634, 296
Comments:  A form of enchondromatosis.
References: 
Mutations not determined
Disease:  Ollier disease
OMIM:  166000
Orphanet:  163634, 296
Comments:  Ollier disease is a from of enchondromatosis. An Arg150 -> Cys polymorphism may be linked to Ollier disease. This has been disputed.
References:  12,30,49,61
Click column headers to sort
Type Species Molecular location Description Reference
single nucleotide polymorphism Human R150C 30,49,61
Disease:  Eiken syndrome
OMIM:  600002
Orphanet:  79106
Comments:  A truncation mutation in the cytoplasmic tail of the PTH1 receptor has been identified to cause Eiken syndrome.
References:  14
Mutations not determined
Disease:  Primary failure of tooth eruption
OMIM:  125350
Orphanet:  1077
References: 
Mutations not determined
Disease:  Jansen’s metaphyseal chondrodysplasia
OMIM:  156400
Orphanet:  33067
Comments:  Several single nucleotide polymorphisms (listed below) have been identified in humans and may be linked to Jansen's metaphyseal chondrodysplasia
References:  5,51,53-55
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 51,54-55
single nucleotide polymorphism Human H223R 51,53-55
Disease:  Chondrodysplasia, Blomstrand type
OMIM:  215045
Orphanet:  50945
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:  29,33,36-37,71
Click column headers to sort
Type Species Molecular location Description Reference
Deletion Human Exon M5 33
Frameshift Human Exon EL2 37
single nucleotide polymorphism Human P132L 29,36,71
Biologically Significant Variants
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.
Type:  Tetranucleotide repeat.
Species:  Human
References:  43,59
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.
Type:  Single nucleotide polymorphism.
Species:  Human
References:  35
Single nucleotide polymorphisms and haplotypes in the PTHR1 gene have been identified and linked to changes in bone mineral density and height.
Type:  Single nucleotide polymorphism.
Species:  Human
References:  72
General Comments
See [50] for a study describing the molecular modelling of the interaction between PTH and the PTH1 and PTH2 receptors.

REFERENCES

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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 21/03/2013. Accessed on 19/05/2013. IUPHAR database (IUPHAR-DB), http://www.iuphar-db.org/DATABASE/ObjectDisplayForward?objectId=331.


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