FSHR Gene Summary [Human]
The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene cause ovarian dysgenesis type 1, and also ovarian hyperstimulation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Details
| Type | Protein Coding |
| Official Symbol | FSHR |
| Official Name | follicle stimulating hormone receptor [Source:HGNC Symbol;Acc:HGNC:3969] |
| Ensembl ID | ENSG00000170820 |
| Bio databases IDs | |
| Aliases | follicle stimulating hormone receptor |
| Synonyms | follicle stimulating hormone receptor, FSHR1, FSHRO, LGR1, ODG1 |
| 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 FSHR 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
- protein phosphatase 1 regulatory subunit 42
- tyrosine sulfation motif
- ectodomain
- Leucine rich repeat
- follicle stimulating hormone receptor
- BspA type Leucine rich repeat region (6 copies)
- protein binding
- Gonadotropin hormone receptor transmembrane region
- seven-transmembrane G protein-coupled receptor superfamily
- polypeptide hormone binding
- beta strand or sheet
- leucine-rich repeat
- transmembrane domain
- hinge domain
- extracellular loop
- 7 transmembrane receptor (rhodopsin family)
- Leucine rich repeat N-terminal domain
- cytosolic tail domain
- cysteine rich domain
Pathways
Biological processes and signaling networks where the FSHR 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
- amenorrhea
- cancer
- premature ovarian failure
- neoplasia
- epithelial cancer
- epithelial neoplasia
- polycystic ovary syndrome
- female infertility
- anemia
- impaired glucose tolerance
role in cell
- expression in
- apoptosis
- phosphorylation in
- activation in
- production in
- proliferation
- quantity
- colony formation
- maturation
- number
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
- cell surface
- intracellular space
- membrane surface
- cellular membrane
- endosomes
- basolateral membrane
- basal membrane
- sperm tail
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FSHR gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- female gamete generation
- male gonad development
- G-protein coupled receptor signaling pathway
- spermatogenesis
- female gonad development
- adenylate cyclase-activating G-protein coupled receptor signaling pathway
- follicle-stimulating hormone signaling pathway
- hormone-mediated signaling pathway
- cellular response to follicle-stimulating hormone stimulus
- gonad development
- regulation of protein kinase A signaling cascade
- positive regulation of ERK1 and ERK2 cascade
- activation of adenylate cyclase activity
- positive regulation of protein kinase B signaling cascade
Cellular Component
Where in the cell the gene product is active
- membrane
- receptor complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- follicle-stimulating hormone receptor activity
- G-protein coupled peptide receptor activity
- protein binding