PTH Gene Summary [Human]
This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Details
| Type | Protein Coding |
| Official Symbol | PTH |
| Official Name | parathyroid hormone [Source:HGNC Symbol;Acc:HGNC:9606] |
| Ensembl ID | ENSG00000152266 |
| Bio databases IDs | |
| Aliases | parathyroid hormone, parathyrin, parathormone, parathyroid hormone 1, preproparathyroid hormone, prepro-PTH |
| Synonyms | FIH1, parathyroid hormone, PPTH, PTH1, Pth-(1-34), PTH-(1-84), Pthp, Pthr1 |
| 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 PTH often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- regulatory domain
- Parathyroid hormone family
- G-protein-coupled receptor binding
- hormone
- receptor agonist activity
- protein binding
- receptor binding
Pathways
Biological processes and signaling networks where the PTH 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
- cancer
- fibrosis
- metastasis
- rheumatoid arthritis
- wasting
- non-insulin-dependent diabetes mellitus
- osteoporosis
- primary hyperthyroidism
- ankle fracture
- hypocalcemia
role in cell
- growth
- apoptosis
- cell death
- expression in
- accumulation in
- quantity
- number
- production in
- migration
- phosphorylation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PTH gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to vitamin D
- transcription from RNA polymerase II promoter
- macromolecule biosynthetic process
- negative regulation of bone mineralization involved in bone maturation
- response to xenobiotic stimulus
- positive regulation of transcription from RNA polymerase II promoter
- positive regulation of glycogen biosynthetic process
- positive regulation of osteoclast proliferation
- response to ethanol
- skeletal system development
- bone resorption
- response to fibroblast growth factor stimulus
- positive regulation of bone mineralization
- phosphate ion homeostasis
- G-protein coupled receptor signaling pathway
- bone mineralization
- cell-cell signaling
- positive regulation of glucose import
- response to cadmium ion
- Rho protein signal transduction
- adenylate cyclase-activating G-protein coupled receptor signaling pathway
- positive regulation of signal transduction
- positive regulation of inositol phosphate biosynthetic process
- cellular calcium ion homeostasis
- induction of apoptosis by hormones
- negative regulation of gene expression
- homeostasis of number of cells within a tissue
- cAMP metabolic process
- positive regulation of gene expression
- positive regulation of cell proliferation in bone marrow
- regulation of gene expression
- negative regulation of chondrocyte differentiation
- response to lead ion
- negative regulation of apoptotic process in bone marrow
- response to parathyroid hormone stimulus
- magnesium ion homeostasis
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular region
Molecular Function
What the gene product does at the molecular level
- type 1 parathyroid hormone receptor binding
- parathyroid hormone receptor binding
- protein binding
- receptor agonist activity
- peptide hormone receptor binding
- hormone activity