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

    Gene ID: 5745, updated on 12-Feb-2024

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PTH1R in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (46877721..46903799)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (46894119..46920191)
    105.20220307 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

    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 Functions

    What'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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    enables protein self-association 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

    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)

    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_000316.3NP_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, Q2M1U3
      UniProtKB/TrEMBL
      Q0VGD7
      Related
      ENSP00000402723.1, ENST00000449590.6
      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
    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, Q2M1U3
      UniProtKB/TrEMBL
      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: GCF_000001405.40-RS_2023_10

    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_011533967.4XP_011532269.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X1

      UniProtKB/TrEMBL
      Q0VGD7
      Conserved Domains (3) summary
      pfam02793
      Location:118186
      HRM; Hormone receptor domain
      cd14964
      Location:199224
      7tm_GPCRs; TM helix 1 [structural motif]
      cl28897
      Location:197489
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
    2. XM_017006934.2XP_016862423.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X3

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

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

      UniProtKB/TrEMBL
      Q0VGD7
      Conserved Domains (2) summary
      pfam00002
      Location:191462
      7tm_2; 7 transmembrane receptor (Secretin family)
      pfam02793
      Location:112180
      HRM; Hormone receptor domain
    5. XM_047448632.1XP_047304588.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X1

      UniProtKB/TrEMBL
      Q0VGD7
    6. XM_017006932.3XP_016862421.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X1

      UniProtKB/TrEMBL
      Q0VGD7
      Conserved Domains (3) summary
      pfam02793
      Location:118186
      HRM; Hormone receptor domain
      cd14964
      Location:199224
      7tm_GPCRs; TM helix 1 [structural motif]
      cl28897
      Location:197489
      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_054347374.1XP_054203349.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X1

      UniProtKB/TrEMBL
      Q0VGD7
    2. XM_054347377.1XP_054203352.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X3

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

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

      UniProtKB/TrEMBL
      Q0VGD7
    5. XM_054347375.1XP_054203350.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X1

      UniProtKB/TrEMBL
      Q0VGD7