Pth1r Gene Summary [Mouse]
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). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Pth1r |
| Official Name | parathyroid hormone 1 receptor [Source:MGI Symbol;Acc:MGI:97801] |
| Ensembl ID | ENSMUSG00000032492 |
| Bio databases IDs | |
| Aliases | parathyroid hormone 1 receptor |
| Synonyms | EKNS, HKRK, parathyroid hormone 1 receptor, PFE, PLP/PTH receptor, PPR, PTH1 receptor, Pth/pthrp receptor, Pth/pthrp type 1 receptor, PTHR, PTHR1, PTHrel |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Pth1r often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- G-protein coupled receptor
- Hormone receptor domain
- extracellular domain
- 7 transmembrane receptor (Secretin family)
- intracellular loop
- parathyroid hormone receptor
- protein binding
- seven-transmembrane G protein-coupled receptor superfamily
- polypeptide hormone binding
- cytoplasmic domain
- transmembrane domain
- protein homodimerization
- tail domain
- PDZ binding motif
Pathways
Biological processes and signaling networks where the Pth1r gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- gout
- rheumatoid arthritis
- epithelial cancer
- liver cancer
- chronic kidney disease
- osteosarcoma
- osteosarcomagenesis
- primary osteoporosis
- osteoporosis
phenotypes
- decreased bone mineral content
- decreased circulating potassium level
- decreased lean body mass
- preweaning lethality complete penetrance
- abnormal blood homeostasis
- abnormal bone mineralization
- abnormal brain morphology
- abnormal circulating phosphate level
- abnormal ductus venosus valve morphology
- abnormal hyaline cartilage morphology
- abnormal inferior vena cava valve morphology
- abnormal lean body mass
- abnormal lens morphology
- abnormal limb morphology
- abnormal long bone epiphyseal plate morphology
- abnormal long bone epiphyseal plate proliferative zone
- abnormal long bone hypertrophic chondrocyte zone
- abnormal neurocranium morphology
- abnormal osteoblast physiology
- abnormal placenta morphology
- abnormal skeleton development
- abnormal synchondrosis
- abnormal thymus morphology
- abnormal vertebral artery topology
- absent ductus venosus valve
- absent segment of posterior cerebral artery
- anastomosis between internal carotid artery and basilar artery
- atelectasis
- blood in lymph vessels
- decreased circulating parathyroid hormone level
- decreased embryo size
- decreased fetal size
- decreased length of long bones
- decreased total retina thickness
- dilated bile duct
- domed cranium
- embryonic growth retardation
- enlarged lymphatic vessel
- enlarged paraumbilical vein
- foramen magnum stenosis
- herniated liver
- increased circulating calcium level
- increased hemangioma incidence
- jugular vein stenosis
- lethality throughout fetal growth and development incomplete penetrance
- long tibia
- neonatal lethality complete penetrance
- perinatal lethality complete penetrance
- placenta hemorrhage
- postnatal growth retardation
- premature chondrocyte differentiation
- prenatal lethality incomplete penetrance
- protruding tongue
- respiratory failure
- retropharyngeal edema
- short limbs
- short mandible
- short snout
- small lung
role in cell
- apoptosis
- migration
- phosphorylation in
- quantity
- accumulation
- accumulation in
- expression in
- proliferation
- activation in
- cell death
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- Cytoplasm
- cell surface
- intracellular space
- apical compartment
- cellular membrane
- Nucleus
- cytosol
- apical membrane
- basolateral membrane
- nucleoli
- brush border
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Pth1r gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell proliferation
- G-protein coupled receptor signaling pathway
- bone mineralization
- G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger
- negative regulation of cell proliferation
- positive regulation of cell proliferation
- chondrocyte differentiation
- adenylate cyclase-modulating G-protein coupled receptor signaling pathway
- cell surface receptor signaling pathway
- cell maturation
- adenylate cyclase-activating G-protein coupled receptor signaling pathway
- osteoblast development
- phospholipase C-activating G-protein coupled receptor signaling pathway
- positive regulation of inositol phosphate biosynthetic process
- cellular calcium ion homeostasis
- skeletal system development
- bone resorption
- in utero embryonic development
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- receptor complex
- basolateral plasma membrane
- plasma membrane
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- G-protein coupled peptide receptor activity
- protein binding
- protein homodimerization activity
- parathyroid hormone receptor activity
- peptide hormone binding