LHCGR
| edit |
| Luteinizirajući hormon/horiogonadotropinski receptor | |||||||||||
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| Identifikatori | |||||||||||
| Simboli | LHCGR; LHR; LCGR; LGR2; hLHR | ||||||||||
| Vanjski ID | OMIM: 152790 MGI: 96783 HomoloGene: 37276 IUPHAR: LH GeneCards: LHCGR Gene | ||||||||||
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| Pregled RNK izražavanja | |||||||||||
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| podaci | |||||||||||
| Ortolozi | |||||||||||
| Vrsta | Čovek | Miš | |||||||||
| Entrez | 3973 | 16867 | |||||||||
| Ensembl | ENSG00000138039 | ENSMUSG00000024107 | |||||||||
| UniProt | P22888 | P30730 | |||||||||
| RefSeq (mRNA) | NM_000233 | NM_013582 | |||||||||
| RefSeq (protein) | NP_000224 | NP_038610 | |||||||||
| Lokacija (UCSC) | Chr 2: 48.77 - 48.84 Mb | Chr 17: 88.65 - 88.7 Mb | |||||||||
| PubMed pretraga | [1] | [2] | |||||||||
LHCGR, luteinizirajući hormon/horiogonadotropinski receptor, lutropin/horiogonadotropinski receptor (LCGR) ili receptor luteinizirajućeg hormona (LHR), je transmembranski receptor nađen u jajnicima, testisima i ekstragonodalnim organima kao što je materica. Ovaj receptor interaguje sa luteinizirajućim hormonom (LH) i horionskim gonadotropinima (kao što je hCG kod čoveka). On je član familije G protein-spregnutih receptora. Njegova aktivacija je neophodna za funkcionisanje hormona tokom reprodukcije.
LHCGR gen je nađen na hromozomu 2 p21 kod ljudi, blizo gena FSH receptora. On se sastoji od 70 kbp (versus 54 kpb za FSHR).[1] Gen je sličan genima FSH i TSH receptora.
LHCGR se sastoji od 674 aminokiselina i ima molekulsku masu od oko 85–95 kDa u zavisnosti od stepena glikozilacije.[2]
Mutacije koje dovode do gubitka funkcije ovog receptora mogu da dovedu do neplodnosti kod žena. Opsežna inaktivacija može da uzrokuje pseudohermafroditizam muškaraca, zbog odsustva responsa fetalnih Leidigovih ćelija i stoga indukuje maskulinizacije.[3] Inaktivacija manje jačine može da dovede do hipospadije ili do razvoja mikropenisa.[2]
Alfred G. Gilman i Martin Rodbel su nagrađeni Nobelovom nagradom za fiziologiju ili medicinu 1994. za otkriće G proteinskog sistema.
Za luteinizirajući hormon/horiogonadotropinski receptor da interaguje sa GIPC1.[4]
- ↑ Simoni M, Gromoll J, Nieschlag E (1997). „The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiology”. Endocr. Rev. 18 (6): 739–73. DOI:10.1210/er.18.6.739. PMID 9408742.
- ↑ 2,0 2,1 Ascoli M, Fanelli F, Segaloff DL (2002). „The lutropin/choriogonadotropin receptor, a 2002 perspective”. Endocr. Rev. 23 (2): 141–74. DOI:10.1210/er.23.2.141. PMID 11943741.
- ↑ Wu SM, Chan WY (1999). „Male pseudohermaphroditism due to inactivating luteinizing hormone receptor mutations”. Arch. Med. Res. 30 (6): 495–500. DOI:10.1016/S0188-4409(99)00074-0. PMID 10714363.
- ↑ Hirakawa, Takashi; Galet Colette, Kishi Mikiko, Ascoli Mario (December 2003). „GIPC binds to the human lutropin receptor (hLHR) through an unusual PDZ domain binding motif, and it regulates the sorting of the internalized human choriogonadotropin and the density of cell surface hLHR”. J. Biol. Chem. (United States) 278 (49): 49348–57. DOI:10.1074/jbc.M306557200. ISSN 0021-9258. PMID 14507927.
- Ji TH, Ryu KS, Gilchrist R, Ji I (1997). „Interaction, signal generation, signal divergence, and signal transduction of LH/CG and the receptor.”. Recent Prog. Horm. Res. 52: 431–53; discussion 454. PMID 9238862.
- Dufau ML (1998). „The luteinizing hormone receptor.”. Annu. Rev. Physiol. 60: 461–96. DOI:10.1146/annurev.physiol.60.1.461. PMID 9558473.
- Ascoli M, Fanelli F, Segaloff DL (2002). „The lutropin/choriogonadotropin receptor, a 2002 perspective.”. Endocr. Rev. 23 (2): 141–74. DOI:10.1210/er.23.2.141. PMID 11943741.
- Amsterdam A, Hanoch T, Dantes A, et al. (2003). „Mechanisms of gonadotropin desensitization.”. Mol. Cell. Endocrinol. 187 (1-2): 69–74. DOI:10.1016/S0303-7207(01)00701-8. PMID 11988313.
- Fanelli F, Puett D (2003). „Structural aspects of luteinizing hormone receptor: information from molecular modeling and mutagenesis.”. Endocrine 18 (3): 285–93. DOI:10.1385/ENDO:18:3:285. PMID 12450321.
- Latronico AC, Segaloff DL (2007). „Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor.”. Mol. Cell. Endocrinol. 260-262: 287–93. DOI:10.1016/j.mce.2005.11.053. PMC 1785107. PMID 17055147.
- Nagayama Y, Russo D, Wadsworth HL, et al. (1991). „Eleven amino acids (Lys-201 to Lys-211) and 9 amino acids (Gly-222 to Leu-230) in the human thyrotropin receptor are involved in ligand binding.”. J. Biol. Chem. 266 (23): 14926–30. PMID 1651314.
- Jia XC, Oikawa M, Bo M, et al. (1991). „Expression of human luteinizing hormone (LH) receptor: interaction with LH and chorionic gonadotropin from human but not equine, rat, and ovine species.”. Mol. Endocrinol. 5 (6): 759–68. DOI:10.1210/mend-5-6-759. PMID 1922095.
- Minegishi T, Nakamura K, Takakura Y, et al. (1990). „Cloning and sequencing of human LH/hCG receptor cDNA.”. Biochem. Biophys. Res. Commun. 172 (3): 1049–54. DOI:10.1016/0006-291X(90)91552-4. PMID 2244890.
- Rousseau-Merck MF, Misrahi M, Atger M, et al. (1991). „Localization of the human luteinizing hormone/choriogonadotropin receptor gene (LHCGR) to chromosome 2p21.”. Cytogenet. Cell Genet. 54 (1-2): 77–9. DOI:10.1159/000132962. PMID 2249480.
- Xie YB, Wang H, Segaloff DL (1991). „Extracellular domain of lutropin/choriogonadotropin receptor expressed in transfected cells binds choriogonadotropin with high affinity.”. J. Biol. Chem. 265 (35): 21411–4. PMID 2254302.
- Frazier AL, Robbins LS, Stork PJ, et al. (1991). „Isolation of TSH and LH/CG receptor cDNAs from human thyroid: regulation by tissue specific splicing.”. Mol. Endocrinol. 4 (8): 1264–76. DOI:10.1210/mend-4-8-1264. PMID 2293030.
- Keutmann HT, Charlesworth MC, Mason KA, et al. (1987). „A receptor-binding region in human choriogonadotropin/lutropin beta subunit.”. Proc. Natl. Acad. Sci. U.S.A. 84 (7): 2038–42. DOI:10.1073/pnas.84.7.2038. PMC 304579. PMID 3470775.
- Atger M, Misrahi M, Sar S, et al. (1995). „Structure of the human luteinizing hormone-choriogonadotropin receptor gene: unusual promoter and 5' non-coding regions.”. Mol. Cell. Endocrinol. 111 (2): 113–23. DOI:10.1016/0303-7207(95)03557-N. PMID 7556872.
- Latronico AC, Anasti J, Arnhold IJ, et al. (1995). „A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.”. J. Clin. Endocrinol. Metab. 80 (8): 2490–4. DOI:10.1210/jc.80.8.2490. PMID 7629248.
- Shenker A, Laue L, Kosugi S, et al. (1993). „A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty.”. Nature 365 (6447): 652–4. DOI:10.1038/365652a0. PMID 7692306.
- Yano K, Saji M, Hidaka A, et al. (1995). „A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty.”. J. Clin. Endocrinol. Metab. 80 (4): 1162–8. DOI:10.1210/jc.80.4.1162. PMID 7714085.
- Kremer H, Kraaij R, Toledo SP, et al. (1995). „Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene.”. Nat. Genet. 9 (2): 160–4. DOI:10.1038/ng0295-160. PMID 7719343.
- Kosugi S, Van Dop C, Geffner ME, et al. (1995). „Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.”. Hum. Mol. Genet. 4 (2): 183–8. DOI:10.1093/hmg/4.2.183. PMID 7757065.
- Kremer H, Mariman E, Otten BJ, et al. (1994). „Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.”. Hum. Mol. Genet. 2 (11): 1779–83. DOI:10.1093/hmg/2.11.1779. PMID 8281137.
- „Glycoprotein Hormone Receptors: LH”. IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology. Arhivirano iz originala na datum 2021-01-18.
- GRIS: Glycoprotein-hormone Receptor Information System Arhivirano 2006-10-16 na Wayback Machine-u
- MeSH LH-hCG+Receptors