1. Gene
  2. PTH1R - parathyroid hormone 1 receptor Gene

PTH1R - parathyroid hormone 1 receptor Gene

Homo sapiens

Also known as PFE; EKNS; PTHR; PTHR1

Gene ID: 5745 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

HRM: Hormone receptor domain (107 - 172)

7tm_2

7tm_2: 7 transmembrane receptor (Secretin family) (186 - 455)

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  • 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 Reference
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%

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

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