PTH1R Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PTH1R |
| Official Name | parathyroid hormone 1 receptor [Source:HGNC Symbol;Acc:HGNC:9608] |
| Ensembl ID | ENSG00000160801 |
| 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 | Human, Homo sapiens |
| 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 human 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 human 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
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 human 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