FSHR

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]

Full Name

Follicle Stimulating Hormone Receptor

Function

G protein-coupled receptor for follitropin, the follicle-stimulating hormone (PubMed:11847099, PubMed:24058690, PubMed:24692546).

Through cAMP production activates the downstream PI3K-AKT and ERK1/ERK2 signaling pathways (PubMed:24058690).

Biological Process

Activation of adenylate cyclase activity Source: GO_Central
Adenylate cyclase-activating G protein-coupled receptor signaling pathway Source: GO_Central
Cellular response to follicle-stimulating hormone stimulus Source: UniProtKB
Female gamete generation Source: ProtInc
Female gonad development Source: ProtInc
Follicle-stimulating hormone signaling pathway Source: UniProtKB
Gonad development Source: ProtInc
G protein-coupled receptor signaling pathway Source: UniProtKB
Hormone-mediated signaling pathway Source: GO_Central
Male gonad development Source: UniProtKB
Positive regulation of ERK1 and ERK2 cascade Source: UniProtKB
Positive regulation of phosphatidylinositol 3-kinase signaling Source: UniProtKB
Regulation of protein kinase A signaling Source: UniProtKB
Spermatogenesis Source: ProtInc

Cellular Location

Cell membrane

Involvement in disease

Ovarian dysgenesis 1 (ODG1):
An autosomal recessive disease characterized by primary amenorrhea, variable development of secondary sex characteristics, poorly developed streak ovaries, and high serum levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH).
Ovarian hyperstimulation syndrome (OHSS):
Disorder which occurs either spontaneously or most often as an iatrogenic complication of ovarian stimulation treatments for in vitro fertilization. The clinical manifestations vary from abdominal distention and discomfort to potentially life-threatening, massive ovarian enlargement and capillary leak with fluid sequestration. Pathologic features of this syndrome include the presence of multiple serous and hemorrhagic follicular cysts lined by luteinized cells, a condition called hyperreactio luteinalis.

Topology

Extracellular: 18-366
Helical: 367-387
Cytoplasmic: 388-398
Helical: 399-421
Extracellular: 422-443
Helical: 444-465
Cytoplasmic: 466-485
Helical: 486-508
Extracellular: 509-528
Helical: 529-550
Cytoplasmic: 551-573
Helical: 574-597
Extracellular: 598-608
Helical: 609-630
Cytoplasmic: 631-695

PTM

Sulfated.
N-glycosylated; indirectly required for FSH-binding, possibly via a conformational change that allows high affinity binding of hormone.