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Protein Page:
FSHR (human)

FSHR Receptor for follicle-stimulating hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Defects in FSHR are a cause of ovarian dysgenesis type 1 (ODG1); also known as premature ovarian failure or gonadal dysgenesis XX type or XX gonadal dysgenesis (XXGD) or hereditary hypergonadotropic ovarian failure or hypergonadotropic ovarian dysgenesis with normal karyotype. ODG1 is an autosomal recessive disease characterized by primary amenorrhea, variable development of secondary sex characteristics, and high serum levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH). Defects in FSHR are a cause of ovarian hyperstimulation syndrome (OHSS). OHSS is a 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. Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: GPCR, family 1; Membrane protein, integral; Membrane protein, multi-pass; Receptor, GPCR
Chromosomal Location of Human Ortholog: 2p21-p16
Cellular Component: integral to membrane; integral to plasma membrane; plasma membrane
Molecular Function: peptide receptor activity, G-protein coupled; protein binding
Biological Process: adenylate cyclase activation; female gamete generation; female gonad development; G-protein coupled receptor protein signaling pathway; G-protein signaling, adenylate cyclase activating pathway; gonad development; hormone-mediated signaling; male gonad development; positive regulation of phosphoinositide 3-kinase cascade; primary ovarian follicle growth; regulation of osteoclast differentiation; spermatogenesis
Disease: Ovarian Dysgenesis 1; Ovarian Hyperstimulation Syndrome; Twinning, Dizygotic
Reference #:  P23945 (UniProtKB)
Alt. Names/Synonyms: follicle stimulating hormone receptor; Follicle-stimulating hormone receptor; Follitropin receptor; FSH receptor; FSH-R; FSHR; FSHRO; LGR1; MGC141667; MGC141668; ODG1
Gene Symbols: FSHR
Molecular weight: 78,265 Da
Basal Isoelectric point: 6.77  Predict pI for various phosphorylation states
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