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

    Gene ID: 5745, updated on 23-Jul-2017
    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; Vega:OTTHUMG00000133515
    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]
    Orthologs
    Location:
    3p21.31
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (46877690..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 protease, serine 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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC138426, MGC138452

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    parathyroid hormone receptor activity IDA
    Inferred from Direct Assay
    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 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
    PubMed 
    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
     
    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
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    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

    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_000316.2NP_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)
      CA412652, U17418
      Consensus CDS
      CCDS2747.1
      UniProtKB/Swiss-Prot
      Q03431
      UniProtKB/TrEMBL
      A0A024R2Z8
      Related
      ENSP00000402723.1, OTTHUMP00000209970, ENST00000449590.5, OTTHUMT00000344355
      Conserved Domains (2) summary
      pfam00002
      Location:184455
      7tm_2; 7 transmembrane receptor (Secretin family)
      pfam02793
      Location:105173
      HRM; Hormone receptor domain
    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 (2) summary
      pfam00002
      Location:184455
      7tm_2; 7 transmembrane receptor (Secretin family)
      pfam02793
      Location:105173
      HRM; Hormone receptor domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      46877690..46903799
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533967.2XP_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 (2) summary
      pfam00002
      Location:184455
      7tm_2; 7 transmembrane receptor (Secretin family)
      pfam02793
      Location:105173
      HRM; Hormone receptor domain
    5. XM_017006932.1XP_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

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      46869336..46895385
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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