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MGP001109

UniProt Annotations

Entry Information
Gene Namefollicle stimulating hormone receptor
Protein EntryFSHR_HUMAN
UniProt IDP23945
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=Long; Synonyms=R1; IsoId=P23945-1; Sequence=Displayed; Name=Short; Synonyms=E9Del; IsoId=P23945-2; Sequence=VSP_001953; Name=3; Synonyms=E6Del; IsoId=P23945-3; Sequence=VSP_043181; Name=4; Synonyms=E8'Inc; IsoId=P23945-4; Sequence=VSP_053411;
DiseaseOvarian dysgenesis 1 (ODG1) [MIM:233300]: 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). {ECO:0000269|PubMed:10551778, ECO:0000269|PubMed:11889179, ECO:0000269|PubMed:12571157, ECO:0000269|PubMed:12915623, ECO:0000269|PubMed:7553856, ECO:0000269|PubMed:9769327, ECO:0000269|PubMed:9851774}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseOvarian hyperstimulation syndrome (OHSS) [MIM:608115]: 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. {ECO:0000269|PubMed:12930927, ECO:0000269|PubMed:12930928, ECO:0000269|PubMed:15080154, ECO:0000269|PubMed:16278261, ECO:0000269|PubMed:17721928}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionReceptor for follicle-stimulating hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase.
InteractionP27348:YWHAQ; NbExp=4; IntAct=EBI-848239, EBI-359854;
PtmN-glycosylated; indirectly required for FSH-binding, possibly via a conformational change that allows high affinity binding of hormone. {ECO:0000250}.
SimilarityBelongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily. {ECO:0000255|PROSITE-ProRule:PRU00521}.
SimilarityContains 1 LRRNT domain. {ECO:0000305}.
SimilarityContains 9 LRR (leucine-rich) repeats. {ECO:0000305}.
Subcellular LocationCell membrane; Multi-pass membrane protein.
SubunitInteracts with ARRB2. {ECO:0000250}.
Tissue SpecificitySertoli cells and ovarian granulosa cells.
Web ResourceName=GRIS; Note=Glycoprotein-hormone Receptors Information System; URL="http://gris.ulb.ac.be/";
Web ResourceName=Sequence-structure-function-analysis of glycoprotein hormone receptors; URL="http://www.ssfa-gphr.de/";
Web ResourceName=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=FSHR";
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