U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

PTH1R parathyroid hormone 1 receptor [ Homo sapiens (human) ]

Gene ID: 5745, updated on 3-Nov-2024

Summary

Go to the top of the page Help
Official Symbol
PTH1Rprovided by HGNC
Official Full Name
parathyroid hormone 1 receptorprovided by HGNC
Primary source
HGNC:HGNC:9608
See related
Ensembl:ENSG00000160801 MIM:168468; AllianceGenome:HGNC:9608
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PFE; EKNS; PTHR; PTHR1
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]
Expression
Biased expression in kidney (RPKM 58.6), adrenal (RPKM 5.4) and 2 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See PTH1R in Genome Data Viewer
Location:
3p21.31
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (46877721..46903799)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (46894119..46920191)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (46919211..46945289)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46853020-46853644 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14294 Neighboring gene serine protease 44, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19799 Neighboring gene serine protease 42, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14295 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14296 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:46887749-46888482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46890183-46891010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46901786-46902286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46914744-46915598 Neighboring gene myosin light chain 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:46929375-46930132 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:46930133-46930890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46931649-46932404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14297 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46950549-46951124 Neighboring gene Sharpr-MPRA regulatory region 5172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46966125-46966626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19800 Neighboring gene BLVRB pseudogene 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:46972095-46972610 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:46972611-46973126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19802 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:46975255-46976022 Neighboring gene Sharpr-MPRA regulatory region 2536 Neighboring gene coiled-coil domain containing 12 Neighboring gene uncharacterized LOC124909375

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. [Cytokines in bone diseases. Genetic defects of PTH/PTHrP receptor in chondrodysplasia]. Ogata N. Clin Calcium, 2010 Oct. PMID 20890029
  2. Quantitative comparison of PTH1R in breast cancer MCF7 and osteosarcoma SaOS-2 cell lines. Alokail MS, et al. Cell Biochem Funct, 2008 Jun. PMID 18395846
  3. PTHR1 mutations associated with Ollier disease result in receptor loss of function. Couvineau A, et al. Hum Mol Genet, 2008 Sep 15. PMID 18559376, Free PMC Article
  4. Structural basis for antibody discrimination between two hormones that recognize the parathyroid hormone receptor. McKinstry WJ, et al. J Biol Chem, 2009 Jun 5. PMID 19346515, Free PMC Article
  5. Mechanical stimulus alters conformation of type 1 parathyroid hormone receptor in bone cells. Zhang YL, et al. Am J Physiol Cell Physiol, 2009 Jun. PMID 19369447, Free PMC Article

See all (186) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The Parathyroid Hormone-Related Protein/Parathyroid Hormone 1 Receptor Axis in Adipose Tissue.
    Title: The Parathyroid Hormone-Related Protein/Parathyroid Hormone 1 Receptor Axis in Adipose Tissue.
  2. Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance.
    Title: Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance.
  3. Parathyroid hormone receptor-1 signaling aggravates hepatic fibrosis through upregulating cAMP response element-binding protein-like 2.
    Title: Parathyroid hormone receptor-1 signaling aggravates hepatic fibrosis through upregulating cAMP response element-binding protein-like 2.
  4. Identification of a novel PTH1R variant in a family with primary failure of eruption.
    Title: Identification of a novel PTH1R variant in a family with primary failure of eruption.
  5. Class B1 GPCR activation by an intracellular agonist.
    Title: Class B1 GPCR activation by an intracellular agonist.
  6. Rare Variant of PTH1R Mutation in an Indian Family.
    Title: Rare Variant of PTH1R Mutation in an Indian Family.
  7. A Novel Heterozygous Missense Variant in Parathyroid Hormone 1 is Related to the Occurrence of Developmental Dysplasia of the Hip.
    Title: A Novel Heterozygous Missense Variant in Parathyroid Hormone 1 is Related to the Occurrence of Developmental Dysplasia of the Hip.
  8. Molecular Mechanism of Ca[2+] in the Allosteric Regulation of Human Parathyroid Hormone Receptor-1.
    Title: Molecular Mechanism of Ca(2+) in the Allosteric Regulation of Human Parathyroid Hormone Receptor-1.
  9. Osteoporosis and its Association with Vitamin D Receptor, Oestrogen alpha Receptor, Parathyroid Receptor and Collagen Type I alpha Receptor Gene Polymorphisms with Bone Mineral Density: A Pilot Study from South Indian Postmenopausal Women of Tamil Nadu.
    Title: Osteoporosis and its Association with Vitamin D Receptor, Oestrogen α Receptor, Parathyroid Receptor and Collagen Type I alpha Receptor Gene Polymorphisms with Bone Mineral Density: A Pilot Study from South Indian Postmenopausal Women of Tamil Nadu.
  10. Salt inducible kinases and PTH1R action.
    Title: Salt inducible kinases and PTH1R action.
Submit: New GeneRIF Correction See all GeneRIFs (137)

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Chondrodysplasia Blomstrand type
MedGen: C1859148 OMIM: 215045 GeneReviews: Not available
not available
Eiken syndrome
MedGen: C1838779 OMIM: 600002 GeneReviews: Not available
not available
Metaphyseal chondrodysplasia, Jansen type
MedGen: C0265295 OMIM: 156400 GeneReviews: Not available
not available
Primary failure of tooth eruption
MedGen: C1852222 OMIM: 125350 GeneReviews: Not available
not available

Copy number response

Description
Copy number response
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2024-06-28)

ClinGen Genome Curation PagePubMed
Triplosensitivity

No evidence available (Last evaluated 2024-06-28)

ClinGen Genome Curation Page

Variation

Go to the top of the page Help

See Variation Viewer (GRCh37.p13)

HIV-1 interactions

Go to the top of the page Help

Replication interactions

Interaction Pubs
Knockdown of parathyroid hormone 1 receptor (PTH1R) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC138426, MGC138452

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein-coupled peptide receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables parathyroid hormone receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables parathyroid hormone receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables peptide hormone binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables peptide hormone binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS
Traceable Author Statement
more info
 PubMed 
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in bone mineralization IEA
Inferred from Electronic Annotation
more info
  
involved_in bone resorption IEA
Inferred from Electronic Annotation
more info
  
involved_in cell maturation IEA
Inferred from Electronic Annotation
more info
  
involved_in cell population proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in cell surface receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in chondrocyte differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
  
involved_in intracellular calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in osteoblast development IEA
Inferred from Electronic Annotation
more info
  
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway IC
Inferred by Curator
more info
 PubMed 
involved_in positive regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of inositol phosphate biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in skeletal system development TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoplasm TAS
Traceable Author Statement
more info
 PubMed 
located_in nucleus TAS
Traceable Author Statement
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

Go to the top of the page Help
Preferred Names
parathyroid hormone/parathyroid hormone-related peptide receptor
Names
PTH/PTHr receptor
PTH/PTHrP type I receptor
PTH1 receptor
parathyroid hormone receptor 1
parathyroid hormone/parathyroid hormone-related protein receptor
seven transmembrane helix receptor

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008864.1 RefSeqGene

    Range
    4976..31054
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000316.3 → NP_000307.1  parathyroid hormone/parathyroid hormone-related peptide receptor precursor

    See identical proteins and their annotated locations for NP_000307.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AC109583, CA412652, U17418
    Consensus CDS
    CCDS2747.1
    UniProtKB/Swiss-Prot
    Q03431, Q2M1U3
    UniProtKB/TrEMBL
    Q0VGD7
    Related
    ENSP00000402723.1, ENST00000449590.6
    Conserved Domains (3) summary
    pfam02793
    Location:105 → 173
    HRM; Hormone receptor domain
    cd14964
    Location:187 → 211
    7tm_GPCRs; TM helix 1 [structural motif]
    cl28897
    Location:184 → 476
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

  2. NM_001184744.1 → NP_001171673.1  parathyroid hormone/parathyroid hormone-related peptide receptor precursor

    See identical proteins and their annotated locations for NP_001171673.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    BC110388, BQ574694, L04308
    Consensus CDS
    CCDS2747.1
    UniProtKB/Swiss-Prot
    Q03431, Q2M1U3
    UniProtKB/TrEMBL
    Q0VGD7
    Related
    ENSP00000413774.2, ENST00000430002.6
    Conserved Domains (3) summary
    pfam02793
    Location:105 → 173
    HRM; Hormone receptor domain
    cd14964
    Location:187 → 211
    7tm_GPCRs; TM helix 1 [structural motif]
    cl28897
    Location:184 → 476
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    46877721..46903799
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533967.4 → XP_011532269.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X1

    UniProtKB/TrEMBL
    Q0VGD7
    Conserved Domains (3) summary
    pfam02793
    Location:118 → 186
    HRM; Hormone receptor domain
    cd14964
    Location:199 → 224
    7tm_GPCRs; TM helix 1 [structural motif]
    cl28897
    Location:197 → 489
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

  2. XM_017006934.2 → XP_016862423.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X3

  3. XM_047448633.1 → XP_047304589.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X4

  4. XM_011533968.3 → XP_011532270.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X2

    UniProtKB/TrEMBL
    Q0VGD7
    Conserved Domains (2) summary
    pfam00002
    Location:191 → 462
    7tm_2; 7 transmembrane receptor (Secretin family)
    pfam02793
    Location:112 → 180
    HRM; Hormone receptor domain

  5. XM_047448632.1 → XP_047304588.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X1

  6. XM_017006932.3 → XP_016862421.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X1

    UniProtKB/TrEMBL
    Q0VGD7
    Conserved Domains (3) summary
    pfam02793
    Location:118 → 186
    HRM; Hormone receptor domain
    cd14964
    Location:199 → 224
    7tm_GPCRs; TM helix 1 [structural motif]
    cl28897
    Location:197 → 489
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    46894119..46920191
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054347374.1 → XP_054203349.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X1

  2. XM_054347377.1 → XP_054203352.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X3

  3. XM_054347378.1 → XP_054203353.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X4

  4. XM_054347376.1 → XP_054203351.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X2

  5. XM_054347375.1 → XP_054203350.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q03431.1 GenPept UniProtKB/Swiss-Prot:Q03431

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous