Melanocortin receptor 3


NameMelanocortin receptor 3
SynonymsMC3-R
Gene NameMC3R
OrganismHuman
Amino acid sequence
>lcl|BSEQ0009850|Melanocortin receptor 3
MNASCCLPSVQPTLPNGSEHLQAPFFSNQSSSAFCEQVFIKPEVFLSLGIVSLLENILVI
LAVVRNGNLHSPMYFFLCSLAVADMLVSVSNALETIMIAIVHSDYLTFEDQFIQHMDNIF
DSMICISLVASICNLLAIAVDRYVTIFYALRYHSIMTVRKALTLIVAIWVCCGVCGVVFI
VYSESKMVIVCLITMFFAMMLLMGTLYVHMFLFARLHVKRIAALPPADGVAPQQHSCMKG
AVTITILLGVFIFCWAPFFLHLVLIITCPTNPYCICYTAHFNTYLVLIMCNSVIDPLIYA
FRSLELRNTFREILCGCNGMNLG
Number of residues323
Molecular Weight36042.75
Theoretical pINone
GO Classification
Functions
    melanocyte-stimulating hormone receptor activity
    peptide hormone binding
    melanocortin receptor activity
    neuropeptide binding
Processes
    G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger
    locomotor rhythm
    positive regulation of cAMP biosynthetic process
    homoiothermy
    sodium ion homeostasis
    regulation of heart rate
    regulation of blood pressure
    adenylate cyclase-modulating G-protein coupled receptor signaling pathway
    regulation of feeding behavior
    circadian regulation of gene expression
    phospholipase C-activating G-protein coupled receptor signaling pathway
Components
    plasma membrane
    integral component of plasma membrane
General FunctionPeptide hormone binding
Specific FunctionReceptor for MSH (alpha, beta and gamma) and ACTH. This receptor is mediated by G proteins which activate adenylate cyclase. Required for expression of anticipatory patterns of activity and wakefulness during periods of limited nutrient availability and for the normal regulation of circadian clock activity in the brain.
Transmembrane Regions38-63 76-100 119-140 161-181 187-210 246-268 278-301
GenBank Protein ID
UniProtKB IDP41968
UniProtKB Entry NameMC3R_HUMAN
Cellular LocationCell membrane
Gene sequence
>lcl|BSEQ0013948|Melanocortin receptor 3 (MC3R)
ATGAATGCTTCGTGCTGCCTGCCCTCTGTTCAGCCAACACTGCCTAATGGCTCGGAGCAC
CTCCAAGCCCCTTTCTTCAGCAACCAGAGCAGCAGCGCCTTCTGTGAGCAGGTCTTCATC
AAGCCCGAGGTTTTCCTGTCTCTGGGCATCGTCAGTCTGCTGGAAAACATCCTGGTTATC
CTGGCCGTGGTCAGGAACGGCAACCTGCACTCCCCGATGTACTTCTTTCTCTGCAGCCTG
GCGGTGGCCGACATGCTGGTAAGTGTGTCCAATGCCCTGGAGACCATCATGATCGCCATC
GTCCACAGCGACTACCTGACCTTCGAGGACCAGTTTATCCAGCACATGGACAACATCTTC
GACTCCATGATCTGCATCTCCCTGGTGGCCTCCATCTGCAACCTCCTGGCCATCGCCGTC
GACAGGTACGTCACCATCTTTTACGCGCTCCGCTACCACAGCATCATGACCGTGAGGAAG
GCCCTCACCTTGATCGTGGCCATCTGGGTCTGCTGCGGCGTCTGTGGCGTGGTGTTCATC
GTCTACTCGGAGAGCAAAATGGTCATTGTGTGCCTCATCACCATGTTCTTCGCCATGATG
CTCCTCATGGGCACCCTCTACGTGCACATGTTCCTCTTTGCGCGGCTGCACGTCAAGCGC
ATAGCAGCACTGCCACCTGCCGACGGGGTGGCCCCACAGCAACACTCATGCATGAAGGGG
GCAGTCACCATCACCATTCTCCTGGGCGTGTTCATCTTCTGCTGGGCCCCCTTCTTCCTC
CACCTGGTCCTCATCATCACCTGCCCCACCAACCCCTACTGCATCTGCTACACTGCCCAC
TTCAACACCTACCTGGTCCTCATCATGTGCAACTCCGTCATCGACCCACTCATCTACGCT
TTCCGGAGCCTGGAATTGCGCAACACCTTTAGGGAGATTCTCTGTGGCTGCAACGGCATG
AACTTGGGATAG
GenBank Gene ID
GeneCard IDNone
GenAtlas ID
HGNC IDHGNC:6931
Chromosome Location20
LocusNone
References
  1. 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.[8463333 ]
  2. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7.[15489334 ]
  3. Tarnow P, Rediger A, Schulz A, Gruters A, Biebermann H: Identification of the translation start site of the human melanocortin 3 receptor. Obes Facts. 2012;5(1):45-51. doi: 10.1159/000336070. Epub 2012 Mar 2.[22433616 ]
  4. Lee YS, Poh LK, Loke KY: A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity. J Clin Endocrinol Metab. 2002 Mar;87(3):1423-6.[11889220 ]
  5. Tao YX, Segaloff DL: 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. 2004 Aug;89(8):3936-42.[15292330 ]
  6. Mencarelli M, Walker GE, Maestrini S, Alberti L, Verti B, Brunani A, Petroni ML, Tagliaferri M, Liuzzi A, Di Blasio AM: Sporadic mutations in melanocortin receptor 3 in morbid obese individuals. Eur J Hum Genet. 2008 May;16(5):581-6. doi: 10.1038/sj.ejhg.5202005. Epub 2008 Jan 30.[18231126 ]
  7. Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M, Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE, Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C, Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A, Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA, Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S, Rogers J: The DNA sequence and comparative analysis of human chromosome 20. Nature. 2001 Dec 20-27;414(6866):865-71.[11780052 ]

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