Human Gene PTH1R (ENST00000449590.6) from GENCODE V44
  Description: Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA. (from RefSeq NM_000316)
RefSeq Summary (NM_000316): 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].
Gencode Transcript: ENST00000449590.6
Gencode Gene: ENSG00000160801.14
Transcript (Including UTRs)
   Position: hg38 chr3:46,877,721-46,903,799 Size: 26,079 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg38 chr3:46,883,560-46,903,656 Size: 20,097 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:46,877,721-46,903,799)mRNA (may differ from genome)Protein (593 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PTH1R_HUMAN
DESCRIPTION: RecName: Full=Parathyroid hormone/parathyroid hormone-related peptide receptor; AltName: Full=PTH/PTHrP type I receptor; Short=PTH/PTHr receptor; AltName: Full=Parathyroid hormone 1 receptor; Short=PTH1 receptor; Flags: Precursor;
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.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Expressed in most tissues. Most abundant in kidney, bone and liver.
DISEASE: Defects in PTH1R are the cause of Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400]. JMC is a rare autosomal dominant disorder characterized by a short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two parathyroid hormones.
DISEASE: Defects in PTH1R are the cause of chondrodysplasia Blomstrand type (BOCD) [MIM:215045]. BOCD is a severe skeletal dysplasia.
DISEASE: Defects in PTH1R may be a cause of enchondromatosis multiple (ENCHOM) [MIM:166000]. Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis (Ollier and Maffucci diseases). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma.
DISEASE: Defects in PTH1R are the cause of Eiken skeletal dysplasia (EISD) [MIM:600002]; also known as bone modeling defect of hands and feet. It is a rare familial autosomal recessive skeletal dysplasia. It is characterized by multiple epiphyseal dysplasia, with extremely 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.
DISEASE: Defects in PTH1R are a cause of primary failure of tooth eruption (PFE) [MIM:125350]. PFE is a 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.
SIMILARITY: Belongs to the G-protein coupled receptor 2 family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PTH1R";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PTH1R
Diseases sorted by gene-association score: chondrodysplasia, blomstrand type* (1690), metaphyseal chondrodysplasia, murk jansen type* (1667), eiken syndrome* (1350), failure of tooth eruption, primary* (1350), enchondromatosis, multiple, ollier type* (377), heart cancer (17), tooth ankylosis (17), pseudohypoparathyroidism (15), pseudohypoparathyroidism, type ib (14), achondroplasia (14), chondroblastoma (13), chondromyxoid fibroma (13), juxtacortical chondroma (12), skeletal dysplasias (12), multiple enchondromatosis, maffucci type (11), cardiovascular cancer (9), osteogenesis imperfecta, type vii (8), osteoporosis (8), hypercalcemia, infantile, 1 (8), breast adenoma (8), hypoparathyroidism (8), osteosarcoma, somatic (8), clear cell chondrosarcoma (7), osteochondrodysplasia (7), hypercementosis (7), thanatophoric dysplasia, type i (7), hyperparathyroidism, familial primary (6), acrodysostosis (6), pyle disease (6), chondroma (6), familial retinoblastoma (5), tooth resorption (5), d-2-hydroxyglutaric aciduria (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 136.41 RPKM in Kidney - Cortex
Total median expression: 488.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -95.30228-0.418 Picture PostScript Text
3' UTR -30.20143-0.211 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017981 - GPCR_2-like
IPR001879 - GPCR_2_extracellular_dom
IPR002170 - GPCR_2_parathyroid_rcpt
IPR000832 - GPCR_2_secretin-like
IPR017983 - GPCR_2_secretin-like_CS

Pfam Domains:
PF00002 - 7 transmembrane receptor (Secretin family)
PF02793 - Hormone receptor domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1BL1 - NMR MuPIT 1ET2 - Model 1ET3 - Model 3C4M - X-ray MuPIT 3H3G - X-ray MuPIT 3KJ5 - X-ray 3L2J - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q03431
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
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:0042803 protein homodimerization activity
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:0007165 signal transduction
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


-  Descriptions from all associated GenBank mRNAs
  BC112221 - Homo sapiens parathyroid hormone 1 receptor, mRNA (cDNA clone MGC:138426 IMAGE:8327689), complete cds.
BC112247 - Homo sapiens parathyroid hormone 1 receptor, mRNA (cDNA clone MGC:138452 IMAGE:8327715), complete cds.
U17418 - Human parathyroid hormone/parathyroid hormone-related peptide receptor mRNA, complete cds.
X68596 - H.sapiens mRNA for parathyroid hormone receptor.
BC110388 - Homo sapiens parathyroid hormone 1 receptor, mRNA (cDNA clone MGC:102829 IMAGE:5186838), complete cds.
BC031578 - Homo sapiens parathyroid hormone 1 receptor, mRNA (cDNA clone IMAGE:5180885), with apparent retained intron.
L04308 - Human parathyroid hormone receptor mRNA, complete cds.
KJ901676 - Synthetic construct Homo sapiens clone ccsbBroadEn_11070 PTH1R gene, encodes complete protein.
HQ258471 - Synthetic construct Homo sapiens clone IMAGE:100072900 parathyroid hormone 1 receptor (PTH1R) (PTH1R) gene, encodes complete protein.
KJ897418 - Synthetic construct Homo sapiens clone ccsbBroadEn_06812 PTH1R gene, encodes complete protein.
KR711570 - Synthetic construct Homo sapiens clone CCSBHm_00026868 PTH1R (PTH1R) mRNA, encodes complete protein.
KR711571 - Synthetic construct Homo sapiens clone CCSBHm_00026871 PTH1R (PTH1R) mRNA, encodes complete protein.
AY449732 - Homo sapiens parathyroid hormone receptor 1 (PTHR1) mRNA, complete cds.
KJ905882 - Synthetic construct Homo sapiens clone ccsbBroadEn_15552 PTH1R gene, encodes complete protein.
AF495723 - Homo sapiens FP15529 mRNA, complete cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04080 - Neuroactive ligand-receptor interaction

Reactome (by CSHL, EBI, and GO)

Protein Q03431 (Reactome details) participates in the following event(s):

R-HSA-420489 Parathyroid hormone receptor can bind parathyroid hormone
R-HSA-744886 The Ligand:GPCR:Gs complex dissociates
R-HSA-744887 Liganded Gs-activating GPCRs bind inactive heterotrimeric Gs
R-HSA-379044 Liganded Gs-activating GPCR acts as a GEF for Gs
R-HSA-373080 Class B/2 (Secretin family receptors)
R-HSA-418555 G alpha (s) signalling events
R-HSA-500792 GPCR ligand binding
R-HSA-388396 GPCR downstream signalling
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000449590.1, ENST00000449590.2, ENST00000449590.3, ENST00000449590.4, ENST00000449590.5, NM_000316, PTH1R_HUMAN, PTHR, PTHR1, Q03431, Q2M1U3, uc003cqm.1, uc003cqm.2, uc003cqm.3, uc003cqm.4, uc003cqm.5
UCSC ID: ENST00000449590.6
RefSeq Accession: NM_000316
Protein: Q03431 (aka PTH1R_HUMAN)
CCDS: CCDS2747.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.