Melanocortin 3 receptor

Melanocortin receptor 3 is a protein that in humans is encoded by the MC3R gene.[5][6]

MC3R
Identifiers
Aliases	MC3R, BMIQ9, MC3, MC3-R, OB20, OQTL, Melanocortin 3 receptor
External IDs	OMIM: 155540 MGI: 96929 HomoloGene: 7412 GeneCards: MC3R
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q13.2 Start 56,248,732 bp[1] End 56,249,815 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 H3|2 94.8 cM Start 172,248,492 bp[2] End 172,251,114 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • G-protein coupled receptor activity • signal transducer activity • peptide hormone binding • melanocyte-stimulating hormone receptor activity • GO:0001948 protein binding • melanocortin receptor activity • neuropeptide binding Cellular component • integral component of membrane • membrane • cell membrane • integral component of plasma membrane • intracellular Biological process • homoiothermy • rhythmic process • adenylate cyclase-modulating G-protein coupled receptor signaling pathway • G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger • regulation of feeding behavior • circadian regulation of gene expression • regulation of heart rate • regulation of blood pressure • phospholipase C-activating G-protein coupled receptor signaling pathway • sodium ion homeostasis • signal transduction • locomotor rhythm • G-protein coupled receptor signaling pathway • adenylate cyclase-activating G-protein coupled receptor signaling pathway Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	4159	17201
Ensembl	ENSG00000124089	ENSMUSG00000038537
UniProt	P41968	P33033
RefSeq (mRNA)	NM_019888	NM_008561
RefSeq (protein)	NP_063941	NP_032587
Location (UCSC)	Chr 20: 56.25 – 56.25 Mb	Chr 2: 172.25 – 172.25 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

This gene encodes MC₃, 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.[6]

Research

Studies performed by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), found that two specific polymorphisms in the MC3R gene may be associated with pediatric obesity and greater body mass because of greater energy intake. Children who were homozygous for C17A + G241A consumed approximately 38% more than those who did not contain aforementioned polymorphisms. The study concluded that these genetic variants did not affect energy expenditure.[7]

See also

• Melanocortin receptor

References

1. GRCh38: Ensembl release 89: ENSG00000124089 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000038537 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Gantz I, Konda Y, Tashiro T, Shimoto Y, Miwa H, Munzert G, Watson SJ, DelValle J, Yamada T (April 1993). "Molecular cloning of a novel melanocortin receptor". The Journal of Biological Chemistry. 268 (11): 8246–50. PMID 8463333.
6. "Entrez Gene: MC3R melanocortin 3 receptor".
7. Savastano DM, Tanofsky-Kraff M, Han JC, Ning C, Sorg RA, Roza CA, Wolkoff LE, Anandalingam K, Jefferson-George KS, Figueroa RE, Sanford EL, Brady S, Kozlosky M, Schoeller DA, Yanovski JA (October 2009). "Energy intake and energy expenditure among children with polymorphisms of the melanocortin-3 receptor". The American Journal of Clinical Nutrition. 90 (4): 912–20. doi:10.3945/ajcn.2009.27537. PMC 2744620. PMID 19656839.

Further reading

• Magenis RE, Smith L, Nadeau JH, Johnson KR, Mountjoy KG, Cone RD (August 1994). "Mapping of the ACTH, MSH, and neural (MC3 and MC4) melanocortin receptors in the mouse and human". Mammalian Genome. 5 (8): 503–8. doi:10.1007/BF00369320. PMID 7949735. S2CID 24047677.
• Konda Y, Gantz I, DelValle J, Shimoto Y, Miwa H, Yamada T (May 1994). "Interaction of dual intracellular signaling pathways activated by the melanocortin-3 receptor". The Journal of Biological Chemistry. 269 (18): 13162–6. PMID 8175743.
• Gantz I, Tashiro T, Barcroft C, Konda Y, Shimoto Y, Miwa H, Glover T, Munzert G, Yamada T (October 1993). "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" (PDF). Genomics. 18 (1): 166–7. doi:10.1006/geno.1993.1448. hdl:2027.42/30538. PMID 8276410.
• Yang YK, Ollmann MM, Wilson BD, Dickinson C, Yamada T, Barsh GS, Gantz I (March 1997). "Effects of recombinant agouti-signaling protein on melanocortin action". Molecular Endocrinology. 11 (3): 274–80. doi:10.1210/me.11.3.274. PMID 9058374.
• Tota MR, Smith TS, Mao C, MacNeil T, Mosley RT, Van der Ploeg LH, Fong TM (January 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, Wilken J, Barsh GS, Millhauser GL (December 2001). "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. doi:10.1021/bi0117192. PMID 11747427.
• Lee YS, Poh LK, Loke KY (March 2002). "A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity". The Journal of Clinical Endocrinology and Metabolism. 87 (3): 1423–6. doi:10.1210/jc.87.3.1423. PMID 11889220.
• Qian S, Chen H, Weingarth D, Trumbauer ME, Novi DE, Guan X, Yu H, Shen Z, Feng Y, Frazier E, Chen A, Camacho RE, Shearman LP, Gopal-Truter S, MacNeil DJ, Van der Ploeg LH, Marsh DJ (July 2002). "Neither agouti-related protein nor neuropeptide Y is critically required for the regulation of energy homeostasis in mice". Molecular and Cellular Biology. 22 (14): 5027–35. doi:10.1128/MCB.22.14.5027-5035.2002. PMC 139785. PMID 12077332.
• Boucher N, Lanouette CM, Larose M, Pérusse L, Bouchard C, Chagnon YC (March 2002). "A +2138InsCAGACC polymorphism of the melanocortin receptor 3 gene is associated in human with fat level and partitioning in interaction with body corpulence". Molecular Medicine. 8 (3): 158–65. doi:10.1007/BF03402008. PMC 2039979. PMID 12142547.
• Wong J, Love DR, Kyle C, Daniels A, White M, Stewart AW, Schnell AH, Elston RC, Holdaway IM, Mountjoy KG (October 2002). "Melanocortin-3 receptor gene variants in a Maori kindred with obesity and early onset type 2 diabetes". Diabetes Research and Clinical Practice. 58 (1): 61–71. doi:10.1016/S0168-8227(02)00126-2. PMID 12161058.
• Rached M, Buronfosse A, Begeot M, Penhoat A (August 2004). "Inactivation and intracellular retention of the human I183N mutated melanocortin 3 receptor associated with obesity". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1689 (3): 229–34. doi:10.1016/j.bbadis.2004.03.009. PMID 15276649.
• Tao YX, Segaloff DL (August 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". The Journal of Clinical Endocrinology and Metabolism. 89 (8): 3936–42. doi:10.1210/jc.2004-0367. PMID 15292330.
• Lapinsh M, Veiksina S, Uhlén S, Petrovska R, Mutule I, Mutulis F, Yahorava S, Prusis P, Wikberg JE (January 2005). "Proteochemometric mapping of the interaction of organic compounds with melanocortin receptor subtypes". Molecular Pharmacology. 67 (1): 50–9. doi:10.1124/mol.104.002857. PMID 15470082. S2CID 13536417.
• Mandrika I, Petrovska R, Wikberg J (January 2005). "Melanocortin receptors form constitutive homo- and heterodimers". Biochemical and Biophysical Research Communications. 326 (2): 349–54. doi:10.1016/j.bbrc.2004.11.036. PMID 15582585.
• de Krom M, de Rijke CE, Hendriks J, van Engeland H, van Elburg AA, Adan RA (December 2005). "Mutation analysis of the agouti related protein promoter region and the melanocortin-3 receptor in anorexia nervosa patients". Psychiatric Genetics. 15 (4): 237. doi:10.1097/00041444-200512000-00003. PMID 16314751.
• Chen M, Aprahamian CJ, Celik A, Georgeson KE, Garvey WT, Harmon CM, Yang Y (January 2006). "Molecular characterization of human melanocortin-3 receptor ligand-receptor interaction". Biochemistry. 45 (4): 1128–37. doi:10.1021/bi0521792. PMID 16430209.

External links

• "Melanocortin Receptors: MC₃". IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.