Gonadotropin-releasing hormone receptor

NameGonadotropin-releasing hormone receptor
Synonyms
  • GnRH receptor
  • GRHR
Gene NameGNRHR
OrganismHuman
Amino acid sequence
>lcl|BSEQ0000405|Gonadotropin-releasing hormone receptor
MANSASPEQNQNHCSAINNSIPLMQGNLPTLTLSGKIRVTVTFFLFLLSATFNASFLLKL
QKWTQKKEKGKKLSRMKLLLKHLTLANLLETLIVMPLDGMWNITVQWYAGELLCKVLSYL
KLFSMYAPAFMMVVISLDRSLAITRPLALKSNSKVGQSMVGLAWILSSVFAGPQLYIFRM
IHLADSSGQTKVFSQCVTHCSFSQWWHQAFYNFFTFSCLFIIPLFIMLICNAKIIFTLTR
VLHQDPHELQLNQSKNNIPRARLKTLKMTVAFATSFTVCWTPYYVLGIWYWFDPEMLNRL
SDPVNHFFFLFAFLNPCFDPLIYGYFSL
Number of residues328
Molecular Weight37730.355
Theoretical pI9.93
GO Classification
Functions
  • peptide binding
  • gonadotropin-releasing hormone receptor activity
Processes
  • G-protein coupled receptor signaling pathway
  • multicellular organismal development
  • cellular response to gonadotropin-releasing hormone
Components
  • plasma membrane
  • integral component of plasma membrane
  • membrane
General FunctionPeptide binding
Specific FunctionReceptor for gonadotropin releasing hormone (GnRH) that mediates the action of GnRH to stimulate the secretion of the gonadotropic hormones luteinizing hormone (LH) and follicle-stimulating hormone (FSH). This receptor mediates its action by association with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Isoform 2 may act as an inhibitor of GnRH-R signaling.
Pfam Domain Function
Transmembrane Regions39-58 78-97 116-137 165-184 213-232 282-300 307-326
GenBank Protein ID183422
UniProtKB IDP30968
UniProtKB Entry NameGNRHR_HUMAN
Cellular LocationCell membrane
Gene sequence
>lcl|BSEQ0018926|Gonadotropin-releasing hormone receptor (GNRHR)
ATGGCAAACAGTGCCTCTCCTGAACAGAATCAAAATCACTGTTCAGCCATCAACAACAGC
ATCCCACTGATGCAGGGCAACCTCCCCACTCTGACCTTGTCTGGAAAGATCCGAGTGACG
GTTACTTTCTTCCTTTTTCTGCTCTCTGCGACCTTTAATGCTTCTTTCTTGTTGAAACTT
CAGAAGTGGACACAGAAGAAAGAGAAAGGGAAAAAGCTCTCAAGAATGAAGCTGCTCTTA
AAACATCTGACCTTAGCCAACCTGTTGGAGACTCTGATTGTCATGCCACTGGATGGGATG
TGGAACATTACAGTCCAATGGTATGCTGGAGAGTTACTCTGCAAAGTTCTCAGTTATCTA
AAGCTTTTCTCCATGTATGCCCCAGCCTTCATGATGGTGGTGATCAGCCTGGACCGCTCC
CTGGCTATCACGAGGCCCCTAGCTTTGAAAAGCAACAGCAAAGTCGGACAGTCCATGGTT
GGCCTGGCCTGGATCCTCAGTAGTGTCTTTGCAGGACCACAGTTATACATCTTCAGGATG
ATTCATCTAGCAGACAGCTCTGGACAGACAAAAGTTTTCTCTCAATGTGTAACACACTGC
AGTTTTTCACAATGGTGGCATCAAGCATTTTATAACTTTTTCACCTTCAGCTGCCTCTTC
ATCATCCCTCTTTTCATCATGCTGATCTGCAATGCAAAAATCATCTTCACCCTGACACGG
GTCCTTCATCAGGACCCCCACGAACTACAACTGAATCAGTCCAAGAACAATATACCAAGA
GCACGGCTGAAGACTCTAAAAATGACGGTTGCATTTGCCACTTCATTTACTGTCTGCTGG
ACTCCCTACTATGTCCTAGGAATTTGGTATTGGTTTGATCCTGAAATGTTAAACAGGTTG
TCAGACCCAGTAAATCACTTCTTCTTTCTCTTTGCCTTTTTAAACCCATGCTTTGATCCA
CTTATCTATGGATATTTTTCTCTGTGA
GenBank Gene IDL03380
GeneCard IDNot Available
GenAtlas IDGNRHR
HGNC IDHGNC:4421
Chromosome Location4
Locus4q21.2
References
  1. Kakar SS, Musgrove LC, Devor DC, Sellers JC, Neill JD: Cloning, sequencing, and expression of human gonadotropin releasing hormone (GnRH) receptor. Biochem Biophys Res Commun. 1992 Nov 30;189(1):289-95. 1333190
  2. Chi L, Zhou W, Prikhozhan A, Flanagan C, Davidson JS, Golembo M, Illing N, Millar RP, Sealfon SC: Cloning and characterization of the human GnRH receptor. Mol Cell Endocrinol. 1993 Feb;91(1-2):R1-6. 8386108
  3. Kakar SS, Grizzle WE, Neill JD: The nucleotide sequences of human GnRH receptors in breast and ovarian tumors are identical with that found in pituitary. Mol Cell Endocrinol. 1994 Dec;106(1-2):145-9. 7534732
  4. Kakar SS: Molecular structure of the human gonadotropin-releasing hormone receptor gene. Eur J Endocrinol. 1997 Aug;137(2):183-92. 9272108
  5. Grosse R, Schoneberg T, Schultz G, Gudermann T: Inhibition of gonadotropin-releasing hormone receptor signaling by expression of a splice variant of the human receptor. Mol Endocrinol. 1997 Aug;11(9):1305-18. 9259321
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  7. Kottler ML, Bergametti F, Carre MC, Morice S, Decoret E, Lagarde JP, Starzec A, Counis R: Tissue-specific pattern of variant transcripts of the human gonadotropin-releasing hormone receptor gene. Eur J Endocrinol. 1999 Jun;140(6):561-9. 10366411
  8. de Roux N, Young J, Misrahi M, Genet R, Chanson P, Schaison G, Milgrom E: A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. N Engl J Med. 1997 Nov 27;337(22):1597-602. 9371856
  9. Layman LC, Cohen DP, Jin M, Xie J, Li Z, Reindollar RH, Bolbolan S, Bick DP, Sherins RR, Duck LW, Musgrove LC, Sellers JC, Neill JD: Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism. Nat Genet. 1998 Jan;18(1):14-5. 9425890
  10. de Roux N, Young J, Brailly-Tabard S, Misrahi M, Milgrom E, Schaison G: The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred. J Clin Endocrinol Metab. 1999 Feb;84(2):567-72. 10022417
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  12. Pralong FP, Gomez F, Castillo E, Cotecchia S, Abuin L, Aubert ML, Portmann L, Gaillard RC: Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor. J Clin Endocrinol Metab. 1999 Oct;84(10):3811-6. 10523035
  13. Pitteloud N, Boepple PA, DeCruz S, Valkenburgh SB, Crowley WF Jr, Hayes FJ: The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor. J Clin Endocrinol Metab. 2001 Jun;86(6):2470-5. 11397842
  14. Soderlund D, Canto P, de la Chesnaye E, Ulloa-Aguirre A, Mendez JP: A novel homozygous mutation in the second transmembrane domain of the gonadotrophin releasing hormone receptor gene. Clin Endocrinol (Oxf). 2001 Apr;54(4):493-8. 11318785
  15. Costa EM, Bedecarrats GY, Mendonca BB, Arnhold IJ, Kaiser UB, Latronico AC: Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction. J Clin Endocrinol Metab. 2001 Jun;86(6):2680-6. 11397871
  16. Maya-Nunez G, Janovick JA, Ulloa-Aguirre A, Soderlund D, Conn PM, Mendez JP: Molecular basis of hypogonadotropic hypogonadism: restoration of mutant (E(90)K) GnRH receptor function by a deletion at a distant site. J Clin Endocrinol Metab. 2002 May;87(5):2144-9. 11994356
  17. Karges B, Karges W, Mine M, Ludwig L, Kuhne R, Milgrom E, de Roux N: Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2003 Apr;88(4):1873-9. 12679486
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  19. Marcos S, Sarfati J, Leroy C, Fouveaut C, Parent P, Metz C, Wolczynski S, Gerard M, Bieth E, Kurtz F, Verier-Mine O, Perrin L, Archambeaud F, Cabrol S, Rodien P, Hove H, Prescott T, Lacombe D, Christin-Maitre S, Touraine P, Hieronimus S, Dewailly D, Young J, Pugeat M, Hardelin JP, Dode C: The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. J Clin Endocrinol Metab. 2014 Oct;99(10):E2138-43. doi: 10.1210/jc.2014-2110. Epub 2014 Jul 31. 25077900