MC3R
Identifiers
AliasesMC3R, BMIQ9, MC3, MC3-R, OB20, OQTL, Melanocortin 3 receptor
External IDsOMIM: 155540 MGI: 96929 HomoloGene: 7412 GeneCards: MC3R
Orthologs
SpeciesHumanMouse
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 MbChr 2: 172.09 – 172.09 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Function

This gene encodes MC3R, a G-protein coupled receptor (GPCR) for melanocyte-stimulating hormone (MSH) and adrenocorticotropic hormone (ACTH) that is expressed in the brain. This gene maps to the same region as the locus for benign neonatal epilepsy. Mice deficient for this gene have increased fat mass, reduced lean mass and decreased food intake, all suggesting a role for the receptor in the regulation of energy homeostasis.[6] MC3R mutations has been linked to reduced growth rate during childhood and a delay in the age of puberty onset.[7]

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.[8]

Ligands

Evolution

Paralogue

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000124089 - Ensembl, May 2017
  2. ^ a b c 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. doi:10.1016/S0021-9258(18)53088-X. PMID 8463333.
  6. ^ a b "Entrez Gene: MC3R melanocortin 3 receptor".
  7. ^ Lam, B.Y.H., Williamson, A., Finer, S. et al. MC3R links nutritional state to childhood growth and the timing of puberty. Nature (2021). doi:10.1038/s41586-021-04088-9
  8. ^ 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.
  9. ^ Fleming KA, Freeman KT, Powers MD, Santos RG, Debevec G, Giulianotti MA, et al. (March 2019). "Discovery of Polypharmacological Melanocortin-3 and -4 Receptor Probes and Identification of a 100-Fold Selective nM MC3R Agonist versus a μM MC4R Partial Agonist". Journal of Medicinal Chemistry. 62 (5): 2738–2749. doi:10.1021/acs.jmedchem.9b00053. PMC 6463894. PMID 30741545.
  10. ^ Ericson MD, Shaikh R, Larson CM, Freeman KT, Haskell-Luevano C (January 2021). "Multiresidue Tetrapeptide Substitutions Yield a 140-fold Selective Melanocortin-3 over Melanocortin-4 Receptor Agonist". ACS Medicinal Chemistry Letters. 12 (1): 115–120. doi:10.1021/acsmedchemlett.0c00561. PMC 7812669. PMID 33488972.
  11. ^ Doering SR, Freeman K, Debevec G, Geer P, Santos RG, Lavoi TM, et al. (May 2021). "Discovery of Nanomolar Melanocortin-3 Receptor (MC3R)-Selective Small Molecule Pyrrolidine Bis-Cyclic Guanidine Agonist Compounds Via a High-Throughput "Unbiased" Screening Campaign". Journal of Medicinal Chemistry. 64 (9): 5577–5592. doi:10.1021/acs.jmedchem.0c02041. PMC 8552302. PMID 33886285.
  12. ^ Cai M, Mayorov AV, Ying J, Stankova M, Trivedi D, Cabello C, Hruby VJ (August 2005). "Design of novel melanotropin agonists and antagonists with high potency and selectivity for human melanocortin receptors". Peptides. 26 (8): 1481–1485. doi:10.1016/j.peptides.2005.03.020. PMID 15876475. S2CID 45499654.
  13. ^ "GeneCards®: The Human Gene Database".

Further reading

External links

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


Cell surface receptor: G protein-coupled receptors
Melanocortin receptor modulators
Categories