Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PTH1R Gene

Aliases for PTH1R Gene

  • Parathyroid Hormone 1 Receptor 2 3 4
  • PTHR1 3 4 6
  • PTHR 3 4 6
  • Parathyroid Hormone Receptor 1 2 3
  • PTH/PTHrP Type I Receptor 3 4
  • PTH/PTHr Receptor 3 4
  • PTH1 Receptor 3 4
  • PFE 3 6
  • Parathyroid Hormone/Parathyroid Hormone-Related Peptide Receptor 3
  • Parathyroid Hormone/Parathyroid Hormone-Related Protein Receptor 3
  • Seven Transmembrane Helix Receptor 3

External Ids for PTH1R Gene

Previous Symbols for PTH1R Gene

  • PTHR
  • PTHR1

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 eiken syndrome. Among its related pathways are Signaling by GPCR and Signaling by GPCR. GO annotations related to this gene include protein self-association and parathyroid hormone receptor activity. An important paralog of this gene is VIPR2.

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.

Tocris Summary for PTH1R Gene

  • Parathyroid hormone (PTH) receptors are a group of Gs-protein-coupled receptors, currently divided into two subtypes; PTH1 and PTH2. Each subtype has a distinct distribution and mediates different biological actions. PTH1 is ubiquitously expressed, but is found at particularly high levels in skeletal muscle and the kidneys. PTH1 is involved in calcium and phosphate homeostasis and has a role in chondrocyte regulation. PTH2 expression is limited to the brain and testes. Its actions are proposed to include nociception and regulation of pituitary hormone secretion. The human genes encoding the PTH1 and PTH2 receptors are located on chromosomes 3p22-21.1 and 2q33 respectively.

Gene Wiki entry for PTH1R Gene

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

Genomics for PTH1R Gene

Genomic Location for PTH1R Gene

Start:
46,877,746 bp from pter
End:
46,903,799 bp from pter
Size:
26,054 bases
Orientation:
Plus strand

Genomic View for PTH1R Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PTH1R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTH1R Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn151, Asn161, Asn166, and Asn176

Other Protein References for PTH1R Gene

No data available for DME Specific Peptides for PTH1R Gene

Domains for PTH1R Gene

Gene Families for PTH1R Gene

HGNC:
  • PTHNR :GPCR / Class B : Parathyroid hormone receptors
IUPHAR :

UniProtKB/Swiss-Prot:

PTH1R_HUMAN
Family:
  • Belongs to the G-protein coupled receptor 2 family.:
    • Q03431
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:0004888 transmembrane signaling receptor activity --
GO:0004930 G-protein coupled receptor activity --
GO:0004991 parathyroid hormone receptor activity IDA 19674967
GO:0005515 protein binding IPI 23124878
GO:0017046 peptide hormone binding IDA 19674967
genes like me logo Genes that share ontologies with PTH1R: view
genes like me logo Genes that share phenotypes with PTH1R: view

Animal Models for PTH1R Gene

MGI Knock Outs for PTH1R:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
plasma membrane 5
nucleus 4
extracellular 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PTH1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 19674967
genes like me logo Genes that share ontologies with PTH1R: view

Pathways for PTH1R Gene

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

Gene Ontology (GO) - Biological Process for PTH1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 9745456
GO:0001503 ossification --
GO:0002062 chondrocyte differentiation IEA --
GO:0002076 osteoblast development IEA --
GO:0006874 cellular calcium ion homeostasis --
genes like me logo Genes that share ontologies with PTH1R: view

Compounds for PTH1R Gene

(1) Tocris Compounds for PTH1R Gene

Compound Action Cas Number
Parathyroid hormone (1-34) (human) Parathyroid hormone (PTH) receptor agonist [52232-67-4]

(1) HMDB Compounds for PTH1R Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(2) Drugbank Compounds for PTH1R Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Preotact
  • hPTH
68893-82-3 target activator
Teriparatide
  • hPTH 1-34
52232-67-4 target binder

(30) IUPHAR Ligand for PTH1R Gene

Ligand Type Action Affinity Pubmed IDs
[Ala1,12,Aib3,Gln10,hArg11,Trp14,Arg19]PTH-(1-34)-NH2 Agonist Full agonist 8.7
[Ala1,12,Aib3,Gln10,hArg11,Trp14,Arg19]PTH-(1-28)-NH2 (human) Agonist Full agonist 8.6
[Tyr34]PTH-(1-34) (human) Agonist Full agonist 8.5
TIP39-(7-39) (human/bovine) Antagonist Antagonist 8.2
PTHrP-(1-20)/TIP-(23-39) (human) Agonist Full agonist 8
[125I][Nle8,21,Tyr34]PTH-(1-34)-NH2 (rat) Agonist Full agonist 8
[Ile5,Trp23]PTHrP-(1-36) (human) Agonist Full agonist 7.8
[Ile5,Trp23]PTHrP-(3-36) (human) Agonist Full agonist 7.8
PTHrP-(1-21)/PTH-(22-34) (human) Agonist Full agonist 7.7
[Ile5,Trp23]PTHrP-(2-36) (human) Agonist Full agonist 7.6
[Ile5,Trp23,Tyr36]PTHrP-(1-36)-NH2 (human) Agonist Full agonist 7.5
TIP39-(9-39) (human/bovine) Antagonist Antagonist 7.4
[Tyr36]-PTHrP-(1-36) amide (human) Agonist Full agonist 7.4
[Ile5,Trp23]PTHrP-(4-36) (human) Agonist Full agonist 7.4
[Ile5]PTHrP-(1-36) (human) Agonist Full agonist 7.4
PTH-(1-34) (human) Agonist Full agonist 7.4
[D-Trp12,Tyr34]PTH-(7-34) (bovine) Antagonist Antagonist 7.4
[Trp23]PTHrP-(1-36) (human) Agonist Full agonist 7.3
PTH-(1-34) (rat) Agonist Full agonist 7.2
TIP39 Antagonist Antagonist 7.2
TIP39-(3-39) (human/bovine) Antagonist Antagonist 7.2
PTHrP-(7-34) (human, rat, mouse) Antagonist Antagonist 7.2
[Ala1,12,Aib3,Gln10,hArg11,Trp14,Arg19]PTH-(1-21)-NH2 (human) Agonist Full agonist 7.1
[Phe23]PTH-(1-34) (human) Agonist Full agonist 7
[Trp23,Tyr36]PTHrP-(1-36)-NH2 (human) Agonist Full agonist 7
[Ile5,Trp23]PTHrP-(5-36) Antagonist Antagonist 7
PTHrP-(1-36) Agonist Full agonist 6.5
[His5]PTH-(1-34) (human) Agonist Full agonist 5.3
[Ala1,12,Aib3,Gln10,hArg11,Trp14]PTH-(1-14)-NH2 Agonist Full agonist 4.5
[D-Trp12]PTH-(7-34) (bovine) Antagonist Antagonist

(33) Novoseek inferred chemical compound relationships for PTH1R Gene

Compound -log(P) Hits PubMed IDs
adenylate 63.2 18
forskolin 61.7 5
calcium 60.6 31
cyclic amp 56 10
calcitriol 53 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 (20.8).

Integrated Proteomics: protein expression 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 expressions with PTH1R: view

Orthologs for PTH1R Gene

This gene was present in the common ancestor of animals.

Orthologs for PTH1R Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTH1R 36
  • 99.66 (n)
  • 99.66 (a)
PTH1R 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PTH1R 36
  • 91.68 (n)
  • 95.08 (a)
PTH1R 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PTH1R 36
  • 92.25 (n)
  • 96.1 (a)
PTH1R 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pth1r 36
  • 86.8 (n)
  • 90.52 (a)
Pth1r 16
Pth1r 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PTH1R 37
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pth1r 36
  • 87.14 (n)
  • 90.69 (a)
chicken
(Gallus gallus)
Aves PTH1R 36
  • 71.44 (n)
  • 77.32 (a)
PTH1R 37
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTH1R 37
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492020 36
  • 69.58 (n)
  • 74 (a)
zebrafish
(Danio rerio)
Actinopterygii pth1ra 36
  • 67.54 (n)
  • 69.66 (a)
pth1ra 37
  • 68 (a)
OneToOne
pthr1 36
fruit fly
(Drosophila melanogaster)
Insecta Dh44-R1 37
  • 29 (a)
ManyToMany
Dh44-R2 37
  • 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

Selected 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 MAF
rs724448 -- 46,894,244(-) CTGGT(G/T)GTGGG intron-variant
rs724449 -- 46,894,191(-) TGCCC(A/G)AGCCT intron-variant
rs724450 -- 46,894,037(-) CTCAT(A/C)CCCAG intron-variant
rs731626 -- 46,897,288(+) cccat(A/C)tggaa intron-variant
rs936173 -- 46,876,985(-) TGTGG(G/T)TCTGT upstream-variant-2KB

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

Relevant External Links for PTH1R Gene

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

Disorders for PTH1R Gene

(4) OMIM Diseases for PTH1R Gene (168468)

UniProtKB/Swiss-Prot

PTH1R_HUMAN
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.

(4) University of Copenhagen DISEASES for PTH1R Gene

(35) Novoseek inferred disease relationships for PTH1R Gene

Disease -log(P) Hits PubMed IDs
pseudohypoparathyroidism, type ib 84.3 7
hypercalcemia 78.2 12
pseudohypoparathyroidism 71.4 2
olliers disease 66.5 13
osteosarcoma 65.2 13

Relevant External Links for PTH1R

Genetic Association Database (GAD)
PTH1R
Human Genome Epidemiology (HuGE) Navigator
PTH1R
genes like me logo Genes that share disorders with PTH1R: view

Publications for PTH1R Gene

  1. Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. (PMID: 8703170) Schipani E. … Jueppner H. (N. Engl. J. Med. 1996) 3 4 23
  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. Constitutive activation of the cyclic adenosine 3',5'-monophosphate signaling pathway by parathyroid hormone (PTH)/PTH-related peptide receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia. (PMID: 9178745) Schipani E. … Jueppner H. (Mol. Endocrinol. 1997) 3 4 23
  4. A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. (PMID: 9745456) Zhang P. … Silve C. (J. Clin. Endocrinol. Metab. 1998) 3 4 23
  5. The N-terminal fragment of human parathyroid hormone receptor 1 constitutes a hormone binding domain and reveals a distinct disulfide pattern. (PMID: 10913300) Grauschopf U. … Rudolph R. (Biochemistry 2000) 3 4 23

Products for PTH1R Gene

Sources for PTH1R Gene

Back to Top

Content