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follicle-stimulating hormone receptor; FSH-R; follitropin receptor (FSHR, LGR1)

Function: - receptor for follicle-stimulating hormone - activity is mediated by G proteins which activate adenylate cyclase (Gs proteins) Structure: - N-glycosylated; indirectly required for FSH-binding, possibly via a conformational change that allows high affinity binding of hormone (putative) - belongs to the G-protein coupled receptor 1 family, FSH/LSH/TSH subfamily - contains 10 LRR repeats (leucine-rich repeats) Compartment: cell membrane Alternative splicing: named isoforms=2 Expression: sertoli cells & ovarian granulosa cells Pathology: - defects in FSHR are a cause of a) ovarian dysgenesis 1 b) ovarian hyperstimulation syndrome - activating mutations of the FSH receptor: -> fertile eunuch syndrome Laboratory: - FSHR gene mutation

Related

follicle-stimulating hormone; follitropin (FSH)

General

glycoprotein G-protein coupled receptor; serpentine receptor

Properties

SIZE: entity length = 695 aa MW = 78 kD COMPARTMENT: cellular membrane MOTIF: exoplasmic domain {1-366} MOTIF: signal sequence {1-17} leucine-rich repeat SITE: 18-48 MOTIF: leucine residue (SEVERAL) cysteine residue {C18} MODIFICATION: cysteine residue {C25} cysteine residue {C23} MODIFICATION: cysteine residue {C32} cysteine residue {C25} MODIFICATION: cysteine residue {C18} cysteine residue {C32} MODIFICATION: cysteine residue {C23} leucine-rich repeat SITE: 49-72 MOTIF: leucine residue (SEVERAL) leucine-rich repeat SITE: 73-97 MOTIF: leucine residue (SEVERAL) leucine-rich repeat SITE: 98-118 MOTIF: leucine residue (SEVERAL) leucine-rich repeat SITE: 119-143 MOTIF: leucine residue (SEVERAL) leucine-rich repeat SITE: 144-169 MOTIF: leucine residue (SEVERAL) leucine-rich repeat SITE: 170-192 MOTIF: leucine residue (SEVERAL) N-glycosylation site {N191} leucine-rich repeat SITE: 193-216 MOTIF: leucine residue (SEVERAL) N-glycosylation site {N199} leucine-rich repeat SITE: 217-240 MOTIF: leucine residue (SEVERAL) leucine-rich repeat SITE: 241-259 MOTIF: leucine residue (SEVERAL) N-glycosylation site {N293} N-glycosylation site {N318} transmembrane domain {367-387} cytoplasmic loop {388-398} transmembrane domain {399-421} exoplasmic loop {422-443} MOTIF: cysteine residue {C442} MODIFICATION: cysteine residue {C517} transmembrane domain {444-465} cytoplasmic loop {466-485} transmembrane domain {486-508} exoplasmic loop {509-528} MOTIF: cysteine residue {C517} MODIFICATION: cysteine residue {C442} transmembrane domain {529-550} cytoplasmic loop {551-573} transmembrane domain {574-597} exoplasmic loop {598-608} transmembrane domain {609-630} cytoplasmic domain {631-695}

Database Correlations

OMIM correlations MORBIDMAP 136435 UniProt P23945 PFAM correlations Kegg hsa:2492

References

  1. UniProt :accession P23945
  2. GRIS; glycoprotein-hormone receptors information system http://gris.ulb.ac.be/
  3. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=FSHR
  4. SHMPD; The Singapore human mutation and polymorphism database http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=FSHR