PTH1R - parathyroid hormone 1 receptor Gene

Also Known as PFE; EKNS; PTHR; PTHR1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5745

About PTH1R

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:46,877,721-46,903,799 (from NCBI)

This gene has 8 transcripts (splice variants), 197 orthologues, 42 paralogues and is associated with 12 phenotypes. Biased expression in kidney (RPKM 58.6), adrenal (RPKM 5.4) and 2 other tissues.

Summary

The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

PTH1R Products (2)

mRNA	Protein	Name
NM_000316.3	NP_000307.1	parathyroid hormone/parathyroid hormone-related peptide receptor precursor
NM_001184744.1	NP_001171673.1	parathyroid hormone/parathyroid hormone-related peptide receptor precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables parathyroid hormone receptor activity	IDA IDA: Inferred from direct assay	8397094	GOA
enables peptide hormone binding	IDA IDA: Inferred from direct assay	19674967	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19674967	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	27160269	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA IDA: Inferred from direct assay	8397094	GOA
involved in adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IDA IDA: Inferred from direct assay	19674967	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	19674967	GOA
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	8397094	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PTH1R Protein Structure

HRM

7tm_2

0
100
200
300
400
500
593 a.a.

Protein Preferred Names	Protein Names
parathyroid hormone/parathyroid hormone-related peptide receptor	PTH/PTHr receptor

PTH1R Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PTH1R	Q03431	GUCD1	Homo sapiens	Q96NT3-2	Validated Y2H	32296183
Intra	PTH1R	Q03431	MKRN3	Homo sapiens	Q13064	Validated Y2H	32296183
Intra	PTH1R	Q03431	PTHLH	Homo sapiens	P12272	BLI	19674967
Intra	PTH1R	Q03431	PTHLH	Homo sapiens	P12272	X-Ray Diffraction	19674967
Intra	PTH1R	Q03431	PTHLH	Homo sapiens	P12272	Alpha-Screen	19674967
Intra	PTH1R	Q03431	SMARCC1	Homo sapiens	Q92922	Validated Y2H	32296183
Intra	PTH1R	Q03431	CTNNB1	Homo sapiens	P35222	Y2H	23124878
Intra	PTH1R	Q03431	CTNNB1	Homo sapiens	P35222	PLA	23124878
Intra	PTH1R	Q03431	PTH	Homo sapiens	P01270	Alpha-Screen	19674967
Intra	PTH1R	Q03431	TEKT4	Homo sapiens	Q8WW24	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PTH1R Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71244	PTH1R Protein, Human (HEK293, His)	Q03431 (Y23-M189)	≥ 95%, as determined by reducing SDS-PAGE.

PTH1R Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81707	Parathyroid Hormone Receptor 1 Antibody (YA1452)	WB, IP	Human
HY-P84478	Parathyroid Hormone Receptor 1 Antibody (YA4175)	IHC-P, ICC/IF, ELISA	Human
HY-P84478A	Parathyroid Hormone Receptor 1 Antibody (YA4175)(PBS only)	IHC-P, ICC/IF, ELISA	Human
HY-P85340	Parathyroid Hormone Receptor 1 Antibody (YA5032)	WB; IP	Human

Related Diseases

Diseases	Alias
Chondrodysplasia, Blomstrand Type	Chondrodysplasia Blomstrand Type BOCD Blomstrand Lethal Chondrodysplasia Blomstrand Lethal Osteochondrodysplasia Blomstrand'S Lethal Chondrodysplasia Blc Blomstrand Chondrodysplasia Blomstrand Osteochondrodysplasia
Metaphyseal Chondrodysplasia, Jansen Type	Metaphyseal Chondrodysplasia, Murk Jansen Type Jansen'S Metaphyseal Chondrodysplasia MCDJ Murk Jansen Type Metaphyseal Chondrodysplasia Jansen Type Metaphyseal Chondrodysplasia Jansen Disease Jansen Metaphyseal Chondrodysplasia Jansen Metaphyseal Dysostosis Metaphyseal Chondrodysplasia Murk Jansen Type Chondrodysplasia, Metaphyseal, Murk Jansen Type
Eiken Syndrome	Eiken Skeletal Dysplasia Bone Modeling Defect Of Hands And Feet EKNS
Failure Of Tooth Eruption, Primary	Primary Failure Of Tooth Eruption PFE Primary Retention Of Teeth Unerupted Second Primary Molar Dental Noneruption Familial Posterior Openbite Malocclusion Primary Failure Of Tooth Eruption, Nonsyndromic Posterior Openbite Malocclusion, Familial Nonsyndromic Primary Failure Of Eruption Dental Non-Eruption Non-Syndromic Primary Failure Of Eruption Tooth Eruption, Failure, Primary
Enchondromatosis, Multiple, Ollier Type	Ollier Disease Enchondromatosis Dyschondroplasia Osteochondromatosis Multiple Cartilaginous Enchondroses Multiple Enchondromatosis Enchondromatosis With Haemangiomata Enchondromatosis, Multiple Kast'S Syndrome Ollier'S Syndrome Enchondromatosis Multiple ENCHOM Maffucci Disease Olliers Disease Hereditary Multiple Exostoses Chondromatosis
Pseudohypoparathyroidism	Familial Pseudohypoparathyroidism Parathyroid Hormone Resistant Hypoparathyroidism Php - [Pseudohypoparathyroidism] Constitutional Chronic Hypocalcaemia
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism Type 1b PHP1B Pseudohypoparathyroidism Ib Pseudohypoparathyroidism Type Ib Php Ib Pseudohypoparathyroidism 1b
Achondroplasia	Achondroplastic Dwarfism ACH Osteosclerosis Congenita Achondroplastic Physique Chondrodystrophia Dwarf, Achondroplastic Achondroplastic Short Stature Congenital Osteosclerosis
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Hypoparathyroidism	Hypoparathyroidism, Idiopathic Parathyroid, Underactivity Of Syndrome With Hypoparathyroidism Deficiency Of Parathyroid Hormone Parathyroid Gland Insufficiency Parathyroid Insufficiency Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion
Chondroblastoma	Chondroblastoma Of Bone
Tooth Ankylosis	Ankylosis Of Teeth Ankylosis Of Tooth
Bone Disease	Bone Diseases Skeletal Disease Skeletal Disorder Disorder Of Skeletal System
Thanatophoric Dysplasia, Type I	Thanatophoric Dysplasia Thanatophoric Dwarfism Thanatophoric Dysplasia Type 1 TD1 Td Thanatophoric Short Stature Thanatophoric Dwarfism Type 1 Thanatophoric Dysplasia Type I Platyspondylic Lethal Skeletal Dysplasia, San Diego Type Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type Skeletal Dysplasia, San Diego Type Plsd San Diego Type Thanatophoric Dwarfism 1 Dwarfism Thanatophoric Dwarf, Thanatophoric Thanatophoric Dysplasia 1 Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type Platyspondylic Lethal Skeletal Dysplasia San Diego Type Thanatophoric Dwarf Thanatophoric Dwarfism Or Short Stature Thanatophoric Dwarfism Syndrome Td - [Thanatophoric Dwarfism]
Hypercalcemia, Infantile, 1	HCINF1 Infantile Hypercalcemia Hypercalcemia Hypercalcemia, Idiopathic, Of Infancy Hypercalcemia Infantile Idiopathic Hypercalcemia Of Infancy Hypercalcemia, Infantile Hypercalcemia, Infantile, Type 1
Multiple Enchondromatosis, Maffucci Type	Maffucci Syndrome Chondrodysplasia With Hemangioma Chondroplasia Angiomatosis Enchondromatosis With Hemangiomata Hemangiomatosis Chondrodystrophica Kast Syndrome Multiple Angiomas And Endochondromas Dyschondrodysplasia With Hemangiomas Enchondromatosis Type Ii Enchondromatosis With Multiple Cavernous Hemangiomas Dyschondroplasia And Cavernous Hemangioma Hemangiomata With Dyschondroplasia
Primary Hyperparathyroidism	Familial Primary Hyperparathyroidism Hyperparathyroidism, Primary Hyperparathyroidism Primary Hypocalciuric Hypercalcemia, Familial, Type 1 Familial Benign Hypercalcemia Familial Hyperparathyroidism Parathyroid Enlargement
Metachondromatosis	METCDS MC
Hypophosphatemia	Vitamin D-Resistant Rickets Hereditary Hypophosphatemic Rickets Vdrr Vitamin D Resistant Rickets Hypophosphatemic Rickets, X-Linked Dominant Familial Hypophosphatemic Rickets
Hyperparathyroidism	Hyperparathyroidism And Other Disorders Of Parathyroid Gland Parathyroid Hyperfunction Hpth - [Hyperparathyroidism] Parathyroid Gland Hyperfunction Parathyroid Glandular Hyperfunction
Osteonecrosis	Bone Necrosis Avascular Necrosis Of Bone Aseptic Necrosis Necrosis Of Bone Nos Aseptic Osteonecrosis Aseptic Necrosis Of Bone, Site Unspecified Aseptic Or Avascular Bone Necrosis Aseptic Necrosis Of Bone Necrotic Bone Necrotizing Bone Spontaneous Osteonecrosis Osteoradionecrosis
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Spondylometaphyseal Dysplasia Strudwick Syndrome Dappled Metaphysis Syndrome Semd, Strudwick Type Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type Smed, Strudwick Type Smd Smed Strudwick Type SEMDSTWK Smed, Type I Semdc Smed Type 1 Spondyloepimetaphyseal Dysplasia Strudwick Type Sed Strudwick Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type Smed Type I Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses Dysplasia, Spondyloepimetaphyseal, Strudwick Type Dysplasia, Spondylometaphyseal
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness
Hypertension And Brachydactyly Syndrome	Brachydactyly With Hypertension Bilginturan Syndrome HTNB Brachydactyly-Arterial Hypertension Syndrome Brachydactyly, Type E, With Short Stature And Hypertension Bilginturan Brachydactyly Brachydactyly Type E With Short Stature And Hypertension Type E Brachydactyly With Short Stature And Hypertension Brachydactyly Type E, With Short Stature And Hypertension Hypertension With Brachydactyly
Isolated Growth Hormone Deficiency, Type Ia	Ighd Ia Primordial Dwarfism Isolated Growth Hormone Deficiency Type Ia Sexual Ateleiotic Dwarfism Pituitary Dwarfism I IGHD1A Illig-Type Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, Type Ia Congenital Ighd Type Ia Congenital Isolated Gh Deficiency Type Ia Congenital Isolated Growth Hormone Deficiency Type Ia Pituitary Dwarfism 1 Growth Hormone Deficiency, Isolated, Autosomal Recessive Autosomal Recessive Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 1a Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated Autosomal Recessive Illig Type Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, 1a Growth Hormone Deficiency Isolated Autosomal Recessive Dwarfism, Primordial Dwarfism
Acrodysostosis	Acrodysplasia Arkless-Graham Syndrome Maroteaux-Malamut Syndrome Nasal Hypoplasia-Peripheral Dysostosis-Intellectual Disability Syndrome Peripheral Dysostosis-Nasal Hypoplasia-Intellectual Disability Syndrome
Metaphyseal Dysplasia	Bakwin-Krida Syndrome Pyle'S Disease Pyle-Cohn Syndrome
Osteogenic Sarcoma	Osteosarcoma OSRC Osteosarcoma, Somatic Neoplasms, Bone Tissue Bone Tissue Neoplasm Osteoid Sarcoma Skeletal Sarcoma Osteosarcoma Of Bone Bone Sarcoma
Pseudohypoparathyroidism, Type Ia	Albright'S Hereditary Osteodystrophy Albright Hereditary Osteodystrophy Pseudohypoparathyroidism Type 1a PHP1A Albright Hereditary Osteodystrophy With Multiple Hormone Resistance Pseudohypoparathyroidism Ia AHO Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy Pseudo-Pseudohypoparathyroidism Pseudohypoparathyroidism Type I A Php Ia Pseudopseudohypoparathyroidism Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance Pphp Pseudopseudo-Hypoparathyroidism Aho-Php Syndrome Ia Albright Hereditary Osteodystrophy-Php Syndrome Ia Pseudohypoparathyroidism 1a Pseudohypoparathyroidism
Spindle Cell Hemangioma	Sch Spindle Cell Hemangioendothelioma
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Spondyloepimetaphyseal Dysplasia-Short Limb-Abnormal Calcification Syndrome Smed-Sl Smed-Sl/Ac Smed Short Limb-Abnormal Calcification Type Smed Short Limb-Hand Type Spondylometaepiphyseal Dysplasia Short Limb-Hand Type Smed, Type Ii Smed Type 2 Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type Smed, Short Limb-Hand Type Spondylometaepiphyseal Dysplasia, Short Limb-Abnormal Calcification Type Smed, Short Limb-Abnormal Calcification Type Spondyloepimetaphyseal Dysplasia - Short Limb - Abnormal Calcification Spondyloepimetaphyseal Dysplasia, Short Limb-Hand Type SEMD-SL Smed Type Ii Dysplasia, Spondylometaepiphyseal, Short Limb-Hand Type
Parathyroid Gland Disease	Parathyroid Diseases Disease Of Parathyroid Glands Parathyroid Disease
Otosclerosis	Otospongiosis
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome	Catshl Syndrome Camptodactyly-Tall Stature-Scoliosis-Deafness Syndrome
Mineral Metabolism Disease	Mineral Metabolism Disorder Disorder Of Mineral Metabolism
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	SADDAN Saddan Dysplasia Severe Achondroplasia With Developmental Delay And Acanthosis Nigricans Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome Ssb Syndrome Skeleton Skin Brain Syndrome Skeleton-Skin-Brain Syndrome Achondroplasia
Mccune-Albright Syndrome	Mass Syndrome Polyostotic Fibrous Dysplasia MAS Fibrous Dysplasia Of Bone Albright Syndrome Mass Phenotype Overlap Connective Tissue Disease Mccune Albright Syndrome Osteitis Fibrosa Disseminata OCTD Albright'S Disease Pfd Pofd Albright'S Syndrome Mccune-Albright Syndrome, Somatic, Mosaic Albright'S Disease Of Bone Albright'S Syndrome With Precocious Puberty Albright-Mccune-Sternberg Syndrome Albright-Sternberg Syndrome Fibrous Dysplasia With Pigmentary Skin Changes And Precocious Puberty Gonadotropin-Independent Female-Limited Sexual Precocity Fibrous Dysplasia Polyostotic Fibrous Dysplasia, Polyostotic
Van Buchem Disease	Hyperostosis Corticalis Generalisata Hyperphosphatasemia Tarda VBCH Sost-Related Sclerosing Bone Dysplasia Endosteal Hyperostosis Autosomal Recessive Sclerosteosis Endosteal Hyperostosis, Autosomal Recessive Hyperotosis Corticalis Generalisata Familiaris Sost Sclerosing Bone Dysplasia Smith-Lemli-Opitz Syndrome
Chronic Kidney Disease	Chronic Renal Disease Chronic Kidney Failure Ckd Chronic Renal Failure Kidney Failure, Chronic Chronic Renal Failure Syndrome Crf Renal Failure - Chronic Renal Failure Chronic Chronic Kidney Diseases Chronic Kidney Disease Stage 5 Ckd - [Chronic Kidney Disease] Crf - [Chronic Renal Failure] Chronic Kidney Impairment Chronic Renal Impairment Chronic Kidney Shutdown Chronic Hypoxic Kidney Failure Chronic Kidney Collapse Chronic Renal Insufficiency Chronic Kidney Toxaemia Chronic Kidney Hypofunction Chronic Renal Suppression Chronic Renal Failure, Stage 5 Ckd - [Chronic Kidney Disease] Stage 5 End Stage Kidney Failure End Stage Renal Failure End Stage Kidney Disease End Stage Renal Disease End Stage Chronic Renal Failure Esrf - [End Stage Renal Failure] Esrd - [End Stage Renal Diseases] Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
Cleidocranial Dysplasia	Cleidocranial Dysostosis CLCD Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly CCD Marie-Sainton Disease Dysplasia Cleidocranial Dento-Osseous Dysplasia Marie-Sainton Syndrome Dysplasia, Cleidocranial
Bone Resorption Disease	Bone Resorption
Bone Remodeling Disease
Bone Development Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (11)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P4385	(Asn10,Leu11,D-Trp12)-pTH-Related Protein (7-34) amide (human, mouse, rat)	Antagonist	99.77%	Unkown
HY-P4821	pTH (1-34) amide (human)	Agonist	99.78%	Unkown
HY-176943	PTH1R agonist 1	Agonist	/	Unkown
HY-176945	PTH1R agonist 3	Agonist	/	Unkown
HY-120398	CH5447240	Agonist	/	Unkown
HY-186200	PTHR1 antagonist 1	Antagonist	/	Unkown
HY-176944	PTH1R agonist 2	Agonist	/	Unkown
HY-113918	SW-106	Antagonist	/	Unkown
HY-131206	DS37571084	Antagonist	/	Unkown
HY-179356	Octadecyl β-D-glucopyranosiduronic acid	Activator	/	Unkown
HY-176946	PTH1R agonist 4	Agonist	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PTH1R	RGD	RGD:3442
Canis familiaris	PTH1R	VGNC	VGNC:45154
Bos taurus	PTH1R	VGNC	VGNC:33514
Mus musculus	PTH1R	MGD	MGI:97801
Macaca mulatta	PTH1R	VGNC	VGNC:76591
Felis catus	PTH1R	VGNC	VGNC:69150
Others	PTH1R	NCBI