Version 5.4
Homo sapiens Gene: PTH1R
Summary
InnateDB Gene IDBG-30933.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PTH1R
Gene Name parathyroid hormone 1 receptor
Synonyms PFE; PTHR; PTHR1
Species Homo sapiens
Ensembl Gene ENSG00000160801
Encoded Proteins
IDBP-30935
parathyroid hormone 1 receptor
IDBP-374819
parathyroid hormone 1 receptor
IDBP-374821
parathyroid hormone 1 receptor
IDBP-374823
parathyroid hormone 1 receptor
IDBP-374829
parathyroid hormone 1 receptor
IDBP-374835
parathyroid hormone 1 receptor
IDBP-374839
parathyroid hormone 1 receptor
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:46877746-46903799
Strand Forward strand
Band p21.31
Transcripts
ENST00000313049 ENSP00000321999
ENST00000449590 ENSP00000402723
ENST00000430002 ENSP00000413774
ENST00000418619 ENSP00000411424
ENST00000427125 ENSP00000400977
ENST00000428220 ENSP00000389811
ENST00000422115 ENSP00000396176
ENST00000490109
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
Experimentally validated
Total 16 [view]
Protein-Protein 16 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004888 transmembrane signaling receptor activity
GO:0004930 G-protein coupled receptor activity
GO:0004991 parathyroid hormone receptor activity
GO:0005515 protein binding
GO:0017046 peptide hormone binding
GO:0043621 protein self-association
Biological Process
GO:0001501 skeletal system development
GO:0001503 ossification
GO:0002062 chondrocyte differentiation
GO:0002076 osteoblast development
GO:0006874 cellular calcium ion homeostasis
GO:0007166 cell surface receptor signaling pathway
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007187 G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway
GO:0007200 phospholipase C-activating G-protein coupled receptor signaling pathway
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0007568 aging
GO:0008284 positive regulation of cell proliferation
GO:0008285 negative regulation of cell proliferation
GO:0030282 bone mineralization
GO:0045453 bone resorption
GO:0048469 cell maturation
GO:0060732 positive regulation of inositol phosphate biosynthetic process
Cellular Component
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0031526 brush border membrane
GO:0043235 receptor complex
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000032492
View Gene Order
ENSBTAG00000016948
Not yet available
Pathways
NETPATH
REACTOME
REACT_19327
G alpha (s) signalling events pathway
REACT_18372
Class B/2 (Secretin family receptors) pathway
REACT_14797
Signaling by GPCR pathway
REACT_111102
Signal Transduction pathway
REACT_19184
GPCR downstream signaling pathway
REACT_21340
GPCR ligand binding pathway
KEGG
hsa04080
Neuroactive ligand-receptor interaction pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.1019
RefSeq NM_000316 NM_001184744 XM_005265342 XM_005265343 XM_005265344
HUGO
OMIM
CCDS CCDS2747
HPRD 01347
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca