Melanocortin 3 receptor
| Melanocortin 3 receptor | |||||||||||
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| Identifiers | |||||||||||
| Symbols | MC3R ; MC3 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 7412 | ||||||||||
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| File:PBB GE MC3R 221442 at tn.png | |||||||||||
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| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
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| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
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Melanocortin 3 receptor, also known as MC3R, is a human gene.[1]
This gene encodes a G-protein coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes. This gene maps to the same region as the locus for benign neonatal epilepsy. Mice deficient for this gene have increased fat mass despite decreased food intake suggesting a role for this gene product in the regulation of energy homeostasis.[1]
See also
References
Further reading
- Magenis RE, Smith L, Nadeau JH; et al. (1994). "Mapping of the ACTH, MSH, and neural (MC3 and MC4) melanocortin receptors in the mouse and human". Mamm. Genome. 5 (8): 503–8. PMID 7949735.
- Konda Y, Gantz I, DelValle J; et al. (1994). "Interaction of dual intracellular signaling pathways activated by the melanocortin-3 receptor". J. Biol. Chem. 269 (18): 13162–6. PMID 8175743.
- Gantz I, Tashiro T, Barcroft C; et al. (1994). "Localization of the genes encoding the melanocortin-2 (adrenocorticotropic hormone) and melanocortin-3 receptors to chromosomes 18p11.2 and 20q13.2-q13.3 by fluorescence in situ hybridization". Genomics. 18 (1): 166–7. doi:10.1006/geno.1993.1448. PMID 8276410.
- Gantz I, Konda Y, Tashiro T; et al. (1993). "Molecular cloning of a novel melanocortin receptor". J. Biol. Chem. 268 (11): 8246–50. PMID 8463333.
- Yang YK, Ollmann MM, Wilson BD; et al. (1997). "Effects of recombinant agouti-signaling protein on melanocortin action". Mol. Endocrinol. 11 (3): 274–80. PMID 9058374.
- Tota MR, Smith TS, Mao C; et al. (1999). "Molecular interaction of Agouti protein and Agouti-related protein with human melanocortin receptors". Biochemistry. 38 (3): 897–904. doi:10.1021/bi9815602. PMID 9893984.
- McNulty JC, Thompson DA, Bolin KA; et al. (2002). "High-resolution NMR structure of the chemically-synthesized melanocortin receptor binding domain AGRP(87-132) of the agouti-related protein". Biochemistry. 40 (51): 15520–7. PMID 11747427.
- Deloukas P, Matthews LH, Ashurst J; et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.
- Lee YS, Poh LK, Loke KY (2002). "A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity". J. Clin. Endocrinol. Metab. 87 (3): 1423–6. PMID 11889220.
- Qian S, Chen H, Weingarth D; et al. (2002). "Neither agouti-related protein nor neuropeptide Y is critically required for the regulation of energy homeostasis in mice". Mol. Cell. Biol. 22 (14): 5027–35. PMID 12077332.
- Boucher N, Lanouette CM, Larose M; et al. (2003). "A +2138InsCAGACC polymorphism of the melanocortin receptor 3 gene is associated in human with fat level and partitioning in interaction with body corpulence". Mol. Med. 8 (3): 158–65. PMID 12142547.
- Wong J, Love DR, Kyle C; et al. (2002). "Melanocortin-3 receptor gene variants in a Maori kindred with obesity and early onset type 2 diabetes". Diabetes Res. Clin. Pract. 58 (1): 61–71. PMID 12161058.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Rached M, Buronfosse A, Begeot M, Penhoat A (2004). "Inactivation and intracellular retention of the human I183N mutated melanocortin 3 receptor associated with obesity". Biochim. Biophys. Acta. 1689 (3): 229–34. doi:10.1016/j.bbadis.2004.03.009. PMID 15276649.
- Tao YX, Segaloff DL (2004). "Functional characterization of melanocortin-3 receptor variants identify a loss-of-function mutation involving an amino acid critical for G protein-coupled receptor activation". J. Clin. Endocrinol. Metab. 89 (8): 3936–42. doi:10.1210/jc.2004-0367. PMID 15292330.
- Lapinsh M, Veiksina S, Uhlén S; et al. (2005). "Proteochemometric mapping of the interaction of organic compounds with melanocortin receptor subtypes". Mol. Pharmacol. 67 (1): 50–9. doi:10.1124/mol.104.002857. PMID 15470082.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Mandrika I, Petrovska R, Wikberg J (2005). "Melanocortin receptors form constitutive homo- and heterodimers". Biochem. Biophys. Res. Commun. 326 (2): 349–54. doi:10.1016/j.bbrc.2004.11.036. PMID 15582585.
- de Krom M, de Rijke CE, Hendriks J; et al. (2006). "Mutation analysis of the agouti related protein promoter region and the melanocortin-3 receptor in anorexia nervosa patients". Psychiatr. Genet. 15 (4): 237. PMID 16314751.
- Chen M, Aprahamian CJ, Celik A; et al. (2006). "Molecular characterization of human melanocortin-3 receptor ligand-receptor interaction". Biochemistry. 45 (4): 1128–37. doi:10.1021/bi0521792. PMID 16430209.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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