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    Pth1r parathyroid hormone 1 receptor [ Mus musculus (house mouse) ]

    Gene ID: 19228, updated on 9-Dec-2024

    Summary

    Official Symbol
    Pth1rprovided by MGI
    Official Full Name
    parathyroid hormone 1 receptorprovided by MGI
    Primary source
    MGI:MGI:97801
    See related
    Ensembl:ENSMUSG00000032492 AllianceGenome:MGI:97801
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    PPR; Pthr; Pthr1
    Summary
    Enables parathyroid hormone receptor activity. Acts upstream of or within several processes, including G protein-coupled receptor signaling pathway; bone resorption; and osteoblast development. Predicted to be located in apical plasma membrane; basolateral plasma membrane; and brush border membrane. Predicted to be part of receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including extraembryonic component; integumental system; limb; lung; and skeleton. Human ortholog(s) of this gene implicated in Eiken syndrome; Jansen's metaphyseal chondrodysplasia; chondrodysplasia Blomstrand type; osteochondrodysplasia; and primary failure of tooth eruption. Orthologous to human PTH1R (parathyroid hormone 1 receptor). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in kidney adult (RPKM 207.3), limb E14.5 (RPKM 43.7) and 4 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Pth1r in Genome Data Viewer
    Location:
    9 F2; 9 60.56 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (110551132..110576213, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (110722085..110747145, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene neurobeachin-like 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:110547743-110548020 Neighboring gene microRNA 8107 Neighboring gene STARR-positive B cell enhancer ABC_E2308 Neighboring gene STARR-positive B cell enhancer ABC_E8949 Neighboring gene coiled-coil domain containing 12 Neighboring gene predicted gene, 35715 Neighboring gene predicted gene, 35775 Neighboring gene myosin, light polypeptide 3 Neighboring gene predicted gene, 46141

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (7)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

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

    General protein information

    Preferred Names
    parathyroid hormone/parathyroid hormone-related peptide receptor
    Names
    PTH-related peptide receptor
    PTH/PTHr receptor
    PTH/PTHrP receptor
    PTH/PTHrP type I receptor
    PTH1 receptor
    parathyroid hormone receptor 1

    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.

    mRNA and Protein(s)

    1. NM_001083935.1NP_001077404.1  parathyroid hormone/parathyroid hormone-related peptide receptor precursor

      See identical proteins and their annotated locations for NP_001077404.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 3. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AC139378, AI607947, BC051981, CB192926
      Consensus CDS
      CCDS52940.1
      UniProtKB/Swiss-Prot
      P41593, Q62119, Q80WU8
      UniProtKB/TrEMBL
      Q91WV4
      Related
      ENSMUSP00000132064.2, ENSMUST00000166716.8
      Conserved Domains (2) summary
      pfam00002
      Location:184455
      7tm_2; 7 transmembrane receptor (Secretin family)
      pfam02793
      Location:105170
      HRM; Hormone receptor domain
    2. NM_001083936.1NP_001077405.1  parathyroid hormone/parathyroid hormone-related peptide receptor precursor

      See identical proteins and their annotated locations for NP_001077405.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AI607947, BB614354, BC051981
      Consensus CDS
      CCDS52940.1
      UniProtKB/Swiss-Prot
      P41593, Q62119, Q80WU8
      UniProtKB/TrEMBL
      Q91WV4
      Related
      ENSMUSP00000006005.8, ENSMUST00000006005.12
      Conserved Domains (2) summary
      pfam00002
      Location:184455
      7tm_2; 7 transmembrane receptor (Secretin family)
      pfam02793
      Location:105170
      HRM; Hormone receptor domain
    3. NM_011199.2NP_035329.2  parathyroid hormone/parathyroid hormone-related peptide receptor precursor

      See identical proteins and their annotated locations for NP_035329.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR, compared to variant 3. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AC139378, AI607947, BC051981, BY005592
      Consensus CDS
      CCDS52940.1
      UniProtKB/Swiss-Prot
      P41593, Q62119, Q80WU8
      UniProtKB/TrEMBL
      Q91WV4
      Related
      ENSMUSP00000143298.2, ENSMUST00000198865.5
      Conserved Domains (2) summary
      pfam00002
      Location:184455
      7tm_2; 7 transmembrane receptor (Secretin family)
      pfam02793
      Location:105170
      HRM; Hormone receptor domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      110551132..110576213 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036154708.1XP_036010601.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X5

      UniProtKB/TrEMBL
      Q91WV4
      Conserved Domains (3) summary
      pfam02793
      Location:133198
      HRM; Hormone receptor domain
      cd14964
      Location:214239
      7tm_GPCRs; TM helix 1 [structural motif]
      cl28897
      Location:212504
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
    2. XM_036154712.1XP_036010605.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X7

      UniProtKB/TrEMBL
      Q91WV4
      Conserved Domains (3) summary
      pfam02793
      Location:111176
      HRM; Hormone receptor domain
      cd14964
      Location:192217
      7tm_GPCRs; TM helix 1 [structural motif]
      cl28897
      Location:190482
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
    3. XM_036154709.1XP_036010602.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X6

      UniProtKB/TrEMBL
      Q91WV4
      Conserved Domains (3) summary
      pfam02793
      Location:117182
      HRM; Hormone receptor domain
      cd14964
      Location:198223
      7tm_GPCRs; TM helix 1 [structural motif]
      cl28897
      Location:196488
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
    4. XM_006511988.5XP_006512051.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X8

      UniProtKB/TrEMBL
      Q91WV4
      Conserved Domains (3) summary
      cd14964
      Location:180205
      7tm_GPCRs; TM helix 1 [structural motif]
      pfam02793
      Location:99164
      HRM; Hormone receptor domain
      cl28897
      Location:178470
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
    5. XM_036154713.1XP_036010606.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X7

      UniProtKB/TrEMBL
      Q91WV4
      Conserved Domains (3) summary
      pfam02793
      Location:111176
      HRM; Hormone receptor domain
      cd14964
      Location:192217
      7tm_GPCRs; TM helix 1 [structural motif]
      cl28897
      Location:190482
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
    6. XM_036154710.1XP_036010603.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X6

      UniProtKB/TrEMBL
      Q91WV4
      Conserved Domains (3) summary
      pfam02793
      Location:117182
      HRM; Hormone receptor domain
      cd14964
      Location:198223
      7tm_GPCRs; TM helix 1 [structural motif]
      cl28897
      Location:196488
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
    7. XM_036154706.1XP_036010599.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X3

      UniProtKB/TrEMBL
      Q91WV4
      Conserved Domains (3) summary
      pfam02793
      Location:175240
      HRM; Hormone receptor domain
      cd14964
      Location:256281
      7tm_GPCRs; TM helix 1 [structural motif]
      cl28897
      Location:254546
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
    8. XM_036154711.1XP_036010604.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X6

      UniProtKB/TrEMBL
      Q91WV4
      Conserved Domains (3) summary
      pfam02793
      Location:117182
      HRM; Hormone receptor domain
      cd14964
      Location:198223
      7tm_GPCRs; TM helix 1 [structural motif]
      cl28897
      Location:196488
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
    9. XM_006511985.3XP_006512048.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X2

      Conserved Domains (4) summary
      pfam01543
      Location:51114
      HCV_capsid; Hepatitis C virus capsid protein
      cd14964
      Location:328353
      7tm_GPCRs; TM helix 1 [structural motif]
      pfam02793
      Location:247312
      HRM; Hormone receptor domain
      cl28897
      Location:326618
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
    10. XM_036154705.1XP_036010598.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X1

      Conserved Domains (4) summary
      PHA03247
      Location:6113
      PHA03247; large tegument protein UL36; Provisional
      pfam02793
      Location:259324
      HRM; Hormone receptor domain
      cd14964
      Location:340365
      7tm_GPCRs; TM helix 1 [structural motif]
      cl28897
      Location:338630
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
    11. XM_036154707.1XP_036010600.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X4

      Conserved Domains (4) summary
      PHA03247
      Location:6113
      PHA03247; large tegument protein UL36; Provisional
      pfam02793
      Location:259324
      HRM; Hormone receptor domain
      cd14964
      Location:340365
      7tm_GPCRs; TM helix 1 [structural motif]
      cl28897
      Location:338626
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily