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

Gene ID: 19228, updated on 4-Jun-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 several cellular components, including apical plasma membrane; basolateral plasma membrane; and brush border membrane. Predicted to be integral component of plasma 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, Apr 2022]
Expression
Biased expression in kidney adult (RPKM 207.3), limb E14.5 (RPKM 43.7) and 4 other tissues See more
Orthologs
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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 G protein-coupled receptor activity IEA
Inferred from Electronic Annotation
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 protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
enables transmembrane signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
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-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 signal transduction IEA
Inferred from Electronic Annotation
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 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
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