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

Gene ID: 5745, updated on 23-Dec-2018

Summary

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
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; 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

Genomic context

See PTH1R in Genome Data Viewer
Location:
3p21.31
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (46877689..46903799)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (46919236..46945289)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene serine protease 42 Neighboring gene myosin light chain 3 Neighboring gene coiled-coil domain containing 12 Neighboring gene neurobeachin like 2 Neighboring gene neurotrophin receptor associated death domain, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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 BioSystems

  • Class B/2 (Secretin family receptors), organism-specific biosystem (from REACTOME)
    Class B/2 (Secretin family receptors), organism-specific biosystemThis family is known as Family B (secretin-receptor family, family 2) G-protein-coupled receptors. Family B GPCRs include secretin, calcitonin, parathyroid hormone/parathyroid hormone-related peptide...
  • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
    Endochondral Ossification, organism-specific biosystemEndochondral ossification is the process by which the embryonic cartilaginous model of most bones contributes to longitudinal growth and is gradually replaced by bone. During endochondral ossificatio...
  • Endocrine and other factor-regulated calcium reabsorption, organism-specific biosystem (from KEGG)
    Endocrine and other factor-regulated calcium reabsorption, organism-specific biosystemCalcium (Ca2+) is essential for numerous physiological functions including intracellular signalling processes, neuronal excitability, muscle contraction and bone formation. Therefore, its homeostasis...
  • Endocrine and other factor-regulated calcium reabsorption, conserved biosystem (from KEGG)
    Endocrine and other factor-regulated calcium reabsorption, conserved biosystemCalcium (Ca2+) is essential for numerous physiological functions including intracellular signalling processes, neuronal excitability, muscle contraction and bone formation. Therefore, its homeostasis...
  • G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (s) signalling events, organism-specific biosystemThe general function of the G alpha (s) subunit (Gs) is to activate adenylate cyclase, which in turn produces cAMP, leading to the activation of cAMP-dependent protein kinases (often referred to col...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • GPCRs, Class B Secretin-like, organism-specific biosystem (from WikiPathways)
    GPCRs, Class B Secretin-like, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.gpcr.org/7tm/ (originally at http://www.cmbi.kun.nl/7tm/). The groupings are based on the GPCR phylogenetic tree available fr...
  • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, organism-specific biosystem
    Neuroactive ligand-receptor interaction
  • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, conserved biosystem
    Neuroactive ligand-receptor interaction
  • Osteoblast Signaling, organism-specific biosystem (from WikiPathways)
    Osteoblast Signaling, organism-specific biosystem
    Osteoblast Signaling
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138426, MGC138452

Gene Ontology Provided by GOA

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

General protein information

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)

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
    5001..31054
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000316.3NP_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
    UniProtKB/TrEMBL
    A0A024R2Z8
    Related
    ENSP00000402723.1, ENST00000449590.5
    Conserved Domains (3) summary
    pfam02793
    Location:105173
    HRM; Hormone receptor domain
    cd14964
    Location:187211
    7tm_GPCRs; TM helix 1 [structural motif]
    cl28897
    Location:184476
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  2. NM_001184744.1NP_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
    UniProtKB/TrEMBL
    A0A024R2Z8, Q0VGD7
    Related
    ENSP00000413774.2, ENST00000430002.6
    Conserved Domains (3) summary
    pfam02793
    Location:105173
    HRM; Hormone receptor domain
    cd14964
    Location:187211
    7tm_GPCRs; TM helix 1 [structural motif]
    cl28897
    Location:184476
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    46877689..46903799
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533967.3XP_011532269.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X1

    Conserved Domains (2) summary
    pfam00002
    Location:197468
    7tm_2; 7 transmembrane receptor (Secretin family)
    pfam02793
    Location:118186
    HRM; Hormone receptor domain
  2. XM_017006934.1XP_016862423.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X5

  3. XM_011533968.2XP_011532270.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X2

    Conserved Domains (2) summary
    pfam00002
    Location:191462
    7tm_2; 7 transmembrane receptor (Secretin family)
    pfam02793
    Location:112180
    HRM; Hormone receptor domain
  4. XM_017006933.1XP_016862422.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X3

    UniProtKB/Swiss-Prot
    Q03431
    UniProtKB/TrEMBL
    A0A024R2Z8
    Conserved Domains (3) summary
    pfam02793
    Location:105173
    HRM; Hormone receptor domain
    cd14964
    Location:187211
    7tm_GPCRs; TM helix 1 [structural motif]
    cl28897
    Location:184476
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  5. XM_017006932.2XP_016862421.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X1

    Conserved Domains (2) summary
    pfam00002
    Location:197468
    7tm_2; 7 transmembrane receptor (Secretin family)
    pfam02793
    Location:118186
    HRM; Hormone receptor domain
  6. XM_005265344.3XP_005265401.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X4

    Conserved Domains (2) summary
    pfam00002
    Location:153424
    7tm_2; 7 transmembrane receptor (Secretin family)
    pfam02793
    Location:74142
    HRM; Hormone receptor domain
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