| Structural highlights
Disease
MSHR_HUMAN Familial melanoma;Oculocutaneous albinism type 2. Disease susceptibility is associated with variants affecting the gene represented in this entry.
Function
MSHR_HUMAN Receptor for MSH (alpha, beta and gamma) and ACTH (PubMed:11442765, PubMed:11707265, PubMed:1325670, PubMed:1516719, PubMed:8463333). The activity of this receptor is mediated by G proteins which activate adenylate cyclase (PubMed:11707265, PubMed:1325670, PubMed:16463023, PubMed:19737927). Mediates melanogenesis, the production of eumelanin (black/brown) and phaeomelanin (red/yellow), via regulation of cAMP signaling in melanocytes (PubMed:31097585).[1] [2] [3] [4] [5] [6] [7] [8]
References
- ↑ Jiménez-Cervantes C, Olivares C, González P, Morandini R, Ghanem G, García-Borrón JC. The Pro162 variant is a loss-of-function mutation of the human melanocortin 1 receptor gene. J Invest Dermatol. 2001 Jul;117(1):156-8. PMID:11442765 doi:10.1046/j.0022-202x.2001.01393.x
- ↑ Jiménez-Cervantes C, Germer S, González P, Sánchez J, Sánchez CO, García-Borrón JC. Thr40 and Met122 are new partial loss-of-function natural mutations of the human melanocortin 1 receptor. FEBS Lett. 2001 Nov 9;508(1):44-8. PMID:11707265 doi:10.1016/s0014-5793(01)03025-3
- ↑ Mountjoy KG, Robbins LS, Mortrud MT, Cone RD. The cloning of a family of genes that encode the melanocortin receptors. Science. 1992 Aug 28;257(5074):1248-51. PMID:1325670 doi:10.1126/science.1325670
- ↑ Chhajlani V, Wikberg JE. Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA. FEBS Lett. 1992 Sep 14;309(3):417-20. PMID:1516719 doi:10.1016/0014-5793(92)80820-7
- ↑ Nakayama K, Soemantri A, Jin F, Dashnyam B, Ohtsuka R, Duanchang P, Isa MN, Settheetham-Ishida W, Harihara S, Ishida T. Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians. Hum Genet. 2006 Apr;119(3):322-30. PMID:16463023 doi:10.1007/s00439-006-0141-1
- ↑ Pérez-Oliva AB, Olivares C, Jiménez-Cervantes C, García-Borrón JC. Mahogunin ring finger-1 (MGRN1) E3 ubiquitin ligase inhibits signaling from melanocortin receptor by competition with Galphas. J Biol Chem. 2009 Nov 13;284(46):31714-25. PMID:19737927 doi:10.1074/jbc.M109.028100
- ↑ Ozdeslik RN, Olinski LE, Trieu MM, Oprian DD, Oancea E. Human nonvisual opsin 3 regulates pigmentation of epidermal melanocytes through functional interaction with melanocortin 1 receptor. Proc Natl Acad Sci U S A. 2019 Jun 4;116(23):11508-11517. PMID:31097585 doi:10.1073/pnas.1902825116
- ↑ Gantz I, Konda Y, Tashiro T, Shimoto Y, Miwa H, Munzert G, Watson SJ, DelValle J, Yamada T. Molecular cloning of a novel melanocortin receptor. J Biol Chem. 1993 Apr 15;268(11):8246-50 PMID:8463333
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