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Aliases for PTH1R Gene

Aliases for PTH1R Gene

  • Parathyroid Hormone 1 Receptor 2 3 4 5
  • Parathyroid Hormone Receptor 1 2 3
  • PTH/PTHrP Type I Receptor 3 4
  • PTH/PTHr Receptor 3 4
  • PTH1 Receptor 3 4
  • PTHR1 3 4
  • PTHR 3 4
  • Parathyroid Hormone/Parathyroid Hormone-Related Protein Receptor 3
  • Seven Transmembrane Helix Receptor 3
  • PFE 3

External Ids for PTH1R Gene

Previous HGNC Symbols for PTH1R Gene

  • PTHR
  • PTHR1

Previous GeneCards Identifiers for PTH1R Gene

  • GC03P046895
  • GC03P046919

Summaries for PTH1R Gene

Entrez Gene Summary for PTH1R Gene

  • 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]

GeneCards Summary for PTH1R Gene

PTH1R (Parathyroid Hormone 1 Receptor) is a Protein Coding gene. Diseases associated with PTH1R include chondrodysplasia, blomstrand type and metaphyseal chondrodysplasia, murk jansen type. Among its related pathways are Signaling by GPCR and Endochondral Ossification. GO annotations related to this gene include G-protein coupled receptor activity and protein self-association. An important paralog of this gene is MGC57346-CRHR1.

UniProtKB/Swiss-Prot for PTH1R Gene

  • This is a receptor for parathyroid hormone and for parathyroid hormone-related peptide. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system.

Gene Wiki entry for PTH1R Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTH1R Gene

Genomics for PTH1R Gene

Regulatory Elements for PTH1R Gene

Genomic Location for PTH1R Gene

Chromosome:
3
Start:
46,877,717 bp from pter
End:
46,903,799 bp from pter
Size:
26,083 bases
Orientation:
Plus strand

Genomic View for PTH1R Gene

Genes around PTH1R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTH1R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTH1R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTH1R Gene

Proteins for PTH1R Gene

  • Protein details for PTH1R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q03431-PTH1R_HUMAN
    Recommended name:
    Parathyroid hormone/parathyroid hormone-related peptide receptor
    Protein Accession:
    Q03431
    Secondary Accessions:
    • Q2M1U3

    Protein attributes for PTH1R Gene

    Size:
    593 amino acids
    Molecular mass:
    66361 Da
    Quaternary structure:
    • Interacts (via N-terminal extracellular domain) with PTHLH and PTH. Homodimer in the absence of bound ligand. Peptide hormone binding leads to dissociation of the homodimer. Interacts (via C-terminus) with the heterodimer formed by GNG2 and GNB1.

    Three dimensional structures from OCA and Proteopedia for PTH1R Gene

neXtProt entry for PTH1R Gene

Proteomics data for PTH1R Gene at MOPED

Post-translational modifications for PTH1R Gene

  • Glycosylation at Asn 151, Asn 161, Asn 166, and Asn 176
  • Modification sites at PhosphoSitePlus

Antibody Products

Protein Products

No data available for DME Specific Peptides for PTH1R Gene

Domains & Families for PTH1R Gene

Gene Families for PTH1R Gene

Suggested Antigen Peptide Sequences for PTH1R Gene

Graphical View of Domain Structure for InterPro Entry

Q03431

UniProtKB/Swiss-Prot:

PTH1R_HUMAN :
  • Belongs to the G-protein coupled receptor 2 family.
Family:
  • Belongs to the G-protein coupled receptor 2 family.
genes like me logo Genes that share domains with PTH1R: view

Function for PTH1R Gene

Molecular function for PTH1R Gene

UniProtKB/Swiss-Prot Function:
This is a receptor for parathyroid hormone and for parathyroid hormone-related peptide. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system.

Gene Ontology (GO) - Molecular Function for PTH1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity IEA --
GO:0005515 protein binding IPI 23124878
GO:0043621 protein self-association IDA 19674967
genes like me logo Genes that share ontologies with PTH1R: view
genes like me logo Genes that share phenotypes with PTH1R: view

Human Phenotype Ontology for PTH1R Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTH1R Gene

MGI Knock Outs for PTH1R:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for PTH1R Gene

Localization for PTH1R Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTH1R Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PTH1R Gene COMPARTMENTS Subcellular localization image for PTH1R gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 5
cytosol 3
endosome 1

Gene Ontology (GO) - Cellular Components for PTH1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
GO:0016020 membrane IEA --
GO:0031526 brush border membrane IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with PTH1R: view

Pathways & Interactions for PTH1R Gene

genes like me logo Genes that share pathways with PTH1R: view

SIGNOR curated interactions for PTH1R Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for PTH1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002062 chondrocyte differentiation IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA,TAS 9745456
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway IDA 19674967
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway ISS --
GO:0007204 positive regulation of cytosolic calcium ion concentration IEA --
genes like me logo Genes that share ontologies with PTH1R: view

Drugs & Compounds for PTH1R Gene

(55) Drugs for PTH1R Gene - From: DGIdb, IUPHAR, Novoseek, ApexBio, Tocris, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Teriparatide Approved, Investigational Pharma binder, Target 129
Preotact Approved, Investigational Pharma Target, activator 0
Parathyroid hormone (1-34) (human) Pharma Increases blood calcium level, Parathyroid hormone (PTH) receptor agonist 0
[<sup>125</sup>I][Nle<sup>8,21</sup>,Tyr<sup>34</sup>]PTH-(1-34)-NH<sub>2</sub> (rat) Pharma Full agonist, Agonist 0
[Ala<sup>1,12</sup>,Aib<sup>3</sup>,Gln<sup>10</sup>,hArg<sup>11</sup>,Trp<sup>14,</sup>Arg<sup>19</sup>]PTH-(1-21)-NH2 (human) Pharma Full agonist, Agonist 0

(18) Additional Compounds for PTH1R Gene - From: Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PTH-(1-34) (human)
Full agonist, Agonist
DPC AJ1951
943519-33-3

(2) Tocris Compounds for PTH1R Gene

Compound Action Cas Number
DPC AJ1951 Potent parathyroid hormone (PTH) receptor agonist 943519-33-3
Parathyroid hormone (1-34) (human) Parathyroid hormone (PTH) receptor agonist 52232-67-4

(2) ApexBio Compounds for PTH1R Gene

Compound Action Cas Number
Parathyroid hormone (1-34) (human) Increases blood calcium level 52232-67-4
Parathyroid Hormone (1-34), bovine Enhancer of blood calcium level 12583-68-5
genes like me logo Genes that share compounds with PTH1R: view

Transcripts for PTH1R Gene

Unigene Clusters for PTH1R Gene

Parathyroid hormone 1 receptor:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PTH1R Gene

No ASD Table

Relevant External Links for PTH1R Gene

GeneLoc Exon Structure for
PTH1R
ECgene alternative splicing isoforms for
PTH1R

Expression for PTH1R Gene

mRNA expression in normal human tissues for PTH1R Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PTH1R Gene

This gene is overexpressed in Kidney - Cortex (x20.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PTH1R Gene



SOURCE GeneReport for Unigene cluster for PTH1R Gene Hs.1019

mRNA Expression by UniProt/SwissProt for PTH1R Gene

Q03431-PTH1R_HUMAN
Tissue specificity: Expressed in most tissues. Most abundant in kidney, bone and liver.
genes like me logo Genes that share expression patterns with PTH1R: view

Protein tissue co-expression partners for PTH1R Gene

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues for PTH1R Gene

Orthologs for PTH1R Gene

This gene was present in the common ancestor of animals.

Orthologs for PTH1R Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PTH1R 35
  • 91.68 (n)
  • 95.08 (a)
PTH1R 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PTH1R 35
  • 92.25 (n)
  • 96.1 (a)
PTH1R 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pth1r 35
  • 86.8 (n)
  • 90.52 (a)
Pth1r 16
Pth1r 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PTH1R 35
  • 99.66 (n)
  • 99.66 (a)
PTH1R 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pth1r 35
  • 87.14 (n)
  • 90.69 (a)
oppossum
(Monodelphis domestica)
Mammalia PTH1R 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTH1R 35
  • 71.44 (n)
  • 77.32 (a)
PTH1R 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTH1R 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492020 35
  • 69.58 (n)
  • 74 (a)
zebrafish
(Danio rerio)
Actinopterygii pth1ra 35
  • 67.54 (n)
  • 69.66 (a)
pthr1 35
pth1ra 36
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Dh44-R1 36
  • 29 (a)
ManyToMany
Dh44-R2 36
  • 27 (a)
ManyToMany
Species with no ortholog for PTH1R:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PTH1R Gene

ENSEMBL:
Gene Tree for PTH1R (if available)
TreeFam:
Gene Tree for PTH1R (if available)

Paralogs for PTH1R Gene

(14) SIMAP similar genes for PTH1R Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PTH1R: view

Variants for PTH1R Gene

Sequence variations from dbSNP and Humsavar for PTH1R Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_003582 Jansen metaphyseal chondrodysplasia (JMC)
VAR_003583 Jansen metaphyseal chondrodysplasia (JMC)
VAR_016062 Chondrodysplasia Blomstrand type (BOCD)
rs121434601 - 46,898,097(+) GTGAC(C/T)GCAAT reference, missense
VAR_016064 Jansen metaphyseal chondrodysplasia (JMC)

Structural Variations from Database of Genomic Variants (DGV) for PTH1R Gene

Variant ID Type Subtype PubMed ID
dgv1455e1 CNV Complex 17122850
nsv428417 CNV Loss 18775914
essv8614 CNV CNV 17122850
nsv508915 CNV Insertion 20534489
dgv5130n71 CNV Loss 21882294
nsv876754 CNV Gain 21882294
nsv876755 CNV Loss 21882294
nsv460526 CNV Loss 19166990

Variation tolerance for PTH1R Gene

Residual Variation Intolerance Score: 12.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.15; 39.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PTH1R Gene

HapMap Linkage Disequilibrium report
PTH1R
Human Gene Mutation Database (HGMD)
PTH1R

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTH1R Gene

Disorders for PTH1R Gene

MalaCards: The human disease database

(27) MalaCards diseases for PTH1R Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
chondrodysplasia, blomstrand type
  • chondrodysplasia blomstrand type
metaphyseal chondrodysplasia, murk jansen type
  • jansen's metaphyseal chondrodysplasia
eiken syndrome
  • eiken skeletal dysplasia
failure of tooth eruption, primary
  • primary failure of tooth eruption
ollier disease
  • maffucci syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PTH1R in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PTH1R_HUMAN
  • Chondrodysplasia Blomstrand type (BOCD) [MIM:215045]: Severe skeletal dysplasia. {ECO:0000269 PubMed:9745456}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Eiken skeletal dysplasia (EISD) [MIM:600002]: A rare skeletal dysplasia characterized by severely retarded ossification, principally of the epiphyses, pelvis, hands and feet, as well as by abnormal modeling of the bones in hands and feet, abnormal persistence of cartilage in the pelvis and mild growth retardation. {ECO:0000269 PubMed:15525660}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Enchondromatosis multiple (ENCHOM) [MIM:166000]: A condition characterized by multiple formation of enchondromas, benign neoplasms derived from mesodermal cells that form cartilage. Enchondromas remain within the substance of a cartilage or bone. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma. {ECO:0000269 PubMed:11850620}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400]: Rare autosomal dominant disorder characterized by a short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two parathyroid hormones. {ECO:0000269 PubMed:10487664, ECO:0000269 PubMed:15240651, ECO:0000269 PubMed:7701349, ECO:0000269 PubMed:8703170}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Primary failure of tooth eruption (PFE) [MIM:125350]: Rare condition that has high penetrance and variable expressivity and in which tooth retention occurs without evidence of any obvious mechanical interference. Instead, malfunction of the eruptive mechanism itself appears to cause nonankylosed permanent teeth to fail to erupt, although the eruption pathway has been cleared by bone resorption. {ECO:0000269 PubMed:19061984}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PTH1R

Genetic Association Database (GAD)
PTH1R
Human Genome Epidemiology (HuGE) Navigator
PTH1R
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PTH1R
genes like me logo Genes that share disorders with PTH1R: view

No data available for Genatlas for PTH1R Gene

Publications for PTH1R Gene

  1. Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. (PMID: 15523647) Rozeman L.B. … Bovee J.V.M.G. (Hum. Mutat. 2004) 3 4 23 67
  2. Cloning of a parathyroid hormone/parathyroid hormone-related peptide receptor (PTHR) cDNA from a rat osteosarcoma (UMR 106) cell line: chromosomal assignment of the gene in the human, mouse, and rat genomes. (PMID: 8020952) Pausova Z. … Szpirer C. (Genomics 1994) 2 3 23
  3. Parathyroid hormone-related peptide (PTHrP), parathyroid hormone/parathyroid hormone-related peptide receptor 1 (PTHR1), and MSX1 protein are expressed in central and peripheral giant cell granulomas of the jaws. (PMID: 20060342) Houpis C.H. … Alexandridis C. (Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2010) 3 23
  4. Agonist-regulated cleavage of the extracellular domain of parathyroid hormone receptor type 1. (PMID: 20080964) Klenk C. … Lohse M.J. (J. Biol. Chem. 2010) 3 23
  5. Structural basis for parathyroid hormone-related protein binding to the parathyroid hormone receptor and design of conformation-selective peptides. (PMID: 19674967) Pioszak A.A. … Xu H.E. (J. Biol. Chem. 2009) 3 23

Products for PTH1R Gene

Sources for PTH1R Gene

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