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HPMR

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melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) OKDB#: 4420
 Symbols: MC1R Species: human
 Synonyms: CMM5, MSH-R, SHEP2, MGC14337,  Locus: 16q24.3 in Homo sapiens
HPMR


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General Comment NCBI Summary: This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq]
General function Receptor
Comment
Cellular localization Plasma membrane
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization Luteal cells
Comment Expression of melanocortin receptors mRNA, and direct effects of ACTH on steroid secretion in the bovine ovary. Amweg AN et al. Melanocortin receptors (MCRs) are involved in physiological responses to ACTH, as well as to a-, - and ?-melanocyte-stimulating hormone (a-, - and ?-MSH). Their expression has previously been analyzed in various bovine tissues; however, there are apparently no reports regarding their localization in the ovaries. In the present study, the expression of MCR mRNA in various bovine ovarian structures was characterized with reverse transcription polymerase chain reaction (RT-PCR). Furthermore, whether ACTH affected follicular components by affecting steroid secretion in fragments of ovarian follicular wall of medium and large antral follicles cultured in serum free medium with 1, 10, and 100 nM ACTH, was also determined. Melanocortin receptors mRNA was localized in the theca cells of various follicular stages, whereas only MC3R mRNA was weakly evident in granulosa cells. Melanocortin receptors 1, 2, and 3 mRNA were present in the CL, whereas in stroma, only MC2R mRNA was expressed. There were significant increases in estradiol and cortisol concentrations in response to ACTH in medium follicles, as well as increased concentrations of testosterone and cortisol in large follicles. These results confirmed earlier reports in other species, and demonstrated that MCRs were present in bovine ovaries. Since ACTH induced steroid secretion from the ovary in vitro, we inferred that melanocortin peptides could be involved in regulatory mechanisms related to ovarian functions, e.g. ovulation, steroidogenesis, and luteal function.
Follicle stages Corpus luteum
Comment
Phenotypes
Mutations 0 mutations
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OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: Dec. 1, 2010, 12:35 p.m. by: hsueh   email:
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last update: Dec. 1, 2010, 12:35 p.m. by: hsueh    email:



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