TSHR Gene Summary [Human]
The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Details
| Type | Processed Transcript |
| Official Symbol | TSHR |
| Official Name | thyroid stimulating hormone receptor [Source:HGNC Symbol;Acc:HGNC:12373] |
| Ensembl ID | ENSG00000165409 |
| Bio databases IDs | |
| Aliases | thyroid stimulating hormone receptor |
| Synonyms | AI481368, CHNG1, hTSHR-I, hypothroid, hyt, LGR3, pet, thyroid stimulating hormone receptor, THYROTROPIN receptor, TSHRA, TSH receptor |
| 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 TSHR 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
- extracellular domain
- intracellular loop
- Cholecystokinin A receptor, N-terminal
- signaling receptor activity
- transmembrane helix kinks
- ectodomain
- Leucine rich repeat
- thyroid-stimulating hormone receptor
- BspA type Leucine rich repeat region (6 copies)
- protein binding
- cleavage site
- seven-transmembrane G protein-coupled receptor superfamily
- binding protein
- cytoplasmic loop
- ligand-binding domain
- transmembrane domain
- intracellular domain
- extracellular loop
- 7 transmembrane receptor (rhodopsin family)
- loop domain
- glycosylation site
Pathways
Biological processes and signaling networks where the TSHR 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
- atherosclerosis
- hyperlipidemia
- adenoma formation
- epithelial neoplasia
- benign neoplasia
- cancer
- hyperplasia
- acquired primary hypothyroidism
- Hashimoto thyroiditis
role in cell
- expression in
- cellular infiltration by
- organization
- proliferation
- production in
- formation
- cell viability
- quantity
- binding
- growth
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
- raft fractions
- membrane fraction
- cell surface
- cellular membrane
- Endoplasmic Reticulum
- basolateral cell surfaces
- basolateral membrane
- microsomal membrane
- membrane rafts
- cell membrane leading edge
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TSHR gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- G-protein coupled receptor signaling pathway
- G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger
- positive regulation of cell proliferation
- cell-cell signaling
- cell surface receptor signaling pathway
- adenylate cyclase-activating G-protein coupled receptor signaling pathway
- activation of adenylate cyclase activity
- hormone-mediated signaling pathway
Cellular Component
Where in the cell the gene product is active
- receptor complex
- basolateral plasma membrane
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- thyroid-stimulating hormone receptor activity
- G-protein coupled peptide receptor activity
- protein binding
- signaling receptor activity