Gene

Pth1r

Species
Mus musculus
Symbol
Pth1r
Name
parathyroid hormone 1 receptor
Synonyms
  • parathyroid hormone receptor 1
  • PPR
Biotype
protein coding gene
Automated Description
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; heart and pericardium; 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).
MGI Description
PHENOTYPE: Homozygous mutant mice die in mid-gestation or shortly after birth depending on genetic background, are small in size, have short limbs, and accelerated differentiation of chondrocytes resulting in accelerated bone mineralization. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR45620
No data available
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

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    Disease Associations

    Cases where the expected disease association was NOT found
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      Alleles and Variants

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        Transgenic Alleles

        Species
        (carrying the transgene)
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          Models

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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCm39
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            110.552M110.554M110.556M110.558M110.560M110.562M110.564M110.566M110.568M110.570M110.572M110.574M110.576M

            Sequence Details

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            Expression

            Primary Sources
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            Pth1r molecule type
            Interactor gene
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              Genetic Interactions

              Pth1r role
              Pth1r genetic perturbation
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