Linked Life Data

P23945

Source:http://identifiers.org/uniprot/P23945

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
biopax3:comment
FUNCTION: Receptor for follicle-stimulating hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. SUBUNIT: Interacts with ARRB2 (By similarity). SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Name=Long; IsoId=P23945-1; Sequence=Displayed; Name=Short; IsoId=P23945-2; Sequence=VSP_001953; Name=3; IsoId=P23945-3; Sequence=VSP_043181; TISSUE SPECIFICITY: Sertoli cells and ovarian granulosa cells. PTM: N-glycosylated; indirectly required for FSH-binding, possibly via a conformational change that allows high affinity binding of hormone (By similarity). DISEASE: Defects in FSHR are a cause of ovarian dysgenesis type 1 (ODG1) [MIM:233300]; 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). DISEASE: Defects in FSHR are a cause of ovarian hyperstimulation syndrome (OHSS) [MIM:608115]. 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. SIMILARITY: Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily. SIMILARITY: Contains 9 LRR (leucine-rich) repeats. SIMILARITY: Contains 1 LRRNT domain. WEB RESOURCE: Name=GRIS; Note=Glycoprotein-hormone Receptors Information System; URL="http://gris.ulb.ac.be/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FSHR"; WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=FSHR"; WEB RESOURCE: Name=Sequence-structure-function-analysis of glycoprotein hormone receptors; URL="http://www.ssfa-gphr.de/"; GENE SYNONYMS:FSHR LGR1. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License., SEQUENCE 695 AA; 78265 MW; 766BC421014CD5A4 CRC64;
biopax3:xref
biopax3:displayName
FSHR_HUMAN
biopax3:name
FSH-R, FSHR, Follitropin receptor
biopax3:organism
biopax3:sequence
MALLLVSLLAFLSLGSGCHHRICHCSNRVFLCQESKVTEIPSDLPRNAIELRFVLTKLRVIQKGAFSGFGDLEKIEISQNDVLEVIEADVFSNLPKLHEIRIEKANNLLYINPEAFQNLPNLQYLLISNTGIKHLPDVHKIHSLQKVLLDIQDNINIHTIERNSFVGLSFESVILWLNKNGIQEIHNCAFNGTQLDELNLSDNNNLEELPNDVFHGASGPVILDISRTRIHSLPSYGLENLKKLRARSTYNLKKLPTLEKLVALMEASLTYPSHCCAFANWRRQISELHPICNKSILRQEVDYMTQARGQRSSLAEDNESSYSRGFDMTYTEFDYDLCNEVVDVTCSPKPDAFNPCEDIMGYNILRVLIWFISILAITGNIIVLVILTTSQYKLTVPRFLMCNLAFADLCIGIYLLLIASVDIHTKSQYHNYAIDWQTGAGCDAAGFFTVFASELSVYTLTAITLERWHTITHAMQLDCKVQLRHAASVMVMGWIFAFAAALFPIFGISSYMKVSICLPMDIDSPLSQLYVMSLLVLNVLAFVVICGCYIHIYLTVRNPNIVSSSSDTRIAKRMAMLIFTDFLCMAPISFFAISASLKVPLITVSKAKILLVLFHPINSCANPFLYAIFTKNFRRDFFILLSKCGCYEMQAQIYRTETSSTVHNTHPRNGHCSSAPRVTNGSTYILVPLSHLAQN
biopax3:standardName
Follicle-stimulating hormone receptor