INT84712

Context Info Confidence 0.62 First Reported 1999 Last Reported 2010 Negated 3 Speculated 3 Reported most in Abstract Documents 36 Total Number 39 Disease Relevance 9.34 Pain Relevance 16.91

pigmentation (MC1R) plasma membrane (MC1R) signal transducer activity (MC1R)

Anatomy Link Frequency pigmentation 5 melanocytes 4 skin 3 dorsal 1 hair 1 MC1R (Homo sapiens)

Pain Link Frequency Relevance Heat melanocortin 1 receptor 408 100.00 antagonist 6 92.60 agonist 16 92.32 Kinase C 2 86.36 adenocard 1 44.80 cytokine 1 10.00 addiction 1 5.00 Inflammation 1 5.00

Disease Link Frequency Relevance Heat Skin Cancer 122 99.98 Freckles 50 99.64 Cutaneous Melanoma 1 98.76 Malignant Neoplastic Disease 2 97.80 Melanoma 158 97.46 Retinoblastoma 3 95.20 Apoptosis 6 90.44 Genetic Predisposition To Disease 5 89.84 Alagille Syndrome 1 79.92 Disease 9 75.64

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

Modulation of MC1R function regulates melanin synthesis by melanocytes qualitatively and quantitatively.

Regulation (Modulation) of MC1R in melanocytes associated with melanocortin 1 receptor

1) Confidence 0.62 Published 2005 Journal Mutat. Res. Section Abstract Doc Link 15748644 Disease Relevance 0.09 Pain Relevance 0.77

Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation.

Regulation (effects) of melanocortin 1 receptor in pigmentation associated with melanocortin 1 receptor

2) Confidence 0.62 Published 2000 Journal Hum. Mol. Genet. Section Title Doc Link 11030758 Disease Relevance 0 Pain Relevance 0.53

Testosterone reduced, while progesterone had no effect on, MC1R mRNA level.

Neg (no) Regulation (effect) of MC1R mRNA associated with melanocortin 1 receptor

3) Confidence 0.62 Published 2002 Journal Pigment Cell Res. Section Abstract Doc Link 12453185 Disease Relevance 0 Pain Relevance 1.00

Taken together, the presence of histidine at position 230 is therefore likely to affect MC1R activity in C. atratus and Coscoroba.

Spec (likely) Regulation (affect) of MC1R

4) Confidence 0.61 Published 2008 Journal BMC Evol Biol Section Body Doc Link PMC2553801 Disease Relevance 0.15 Pain Relevance 0

These data suggest that MC1R might be regulated by novel mechanisms including differential effects of GRKs and altered desensitization rates of certain allelic combinations.

Regulation (regulated) of MC1R associated with melanocortin 1 receptor

5) Confidence 0.61 Published 2007 Journal J. Biol. Chem. Section Abstract Doc Link 17130136 Disease Relevance 0.22 Pain Relevance 0.58

We also discuss recent data on the regulation of MC1R function by paracrine and endocrine factors and by external stimuli such as ultraviolet light.

Regulation (regulation) of MC1R in external associated with melanocortin 1 receptor

6) Confidence 0.55 Published 2005 Journal Pigment Cell Res. Section Abstract Doc Link 16280005 Disease Relevance 0 Pain Relevance 0.84

Melanin content and MC1R function independently affect UVR-induced DNA damage in cultured human melanocytes.

Regulation (affect) of MC1R in melanocytes

7) Confidence 0.45 Published 2006 Journal Pigment Cell Res. Section Title Doc Link 16827749 Disease Relevance 0.74 Pain Relevance 0.35

Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation.

Regulation (effects) of MC1R in pigmentation associated with melanocortin 1 receptor

8) Confidence 0.45 Published 2000 Journal Hum. Mol. Genet. Section Title Doc Link 11030758 Disease Relevance 0 Pain Relevance 0.53

We conclude that the MC1R is regulated by paracrine factors, including its own ligands, by specific endocrine sex hormones, and by UVR.

Regulation (regulated) of MC1R associated with melanocortin 1 receptor

9) Confidence 0.45 Published 2002 Journal Pigment Cell Res. Section Abstract Doc Link 12453185 Disease Relevance 0 Pain Relevance 0.94

The genetics of adaptive coat color in gophers: coding variation at Mc1r is not responsible for dorsal color differences.

Neg (not) Regulation (responsible) of Mc1r in dorsal

10) Confidence 0.45 Published 2007 Journal J. Hered. Section Title Doc Link 17646275 Disease Relevance 0 Pain Relevance 0.08

Within melanoma cells and also likely in normal melanocytes, MC1R appears the limiting factor controlling the output of the cAMP signalling pathway.

Regulation (controlling) of MC1R in melanocytes associated with melanocortin 1 receptor and skin cancer

11) Confidence 0.45 Published 2003 Journal Pigment Cell Res. Section Abstract Doc Link 12950734 Disease Relevance 0.31 Pain Relevance 0.67

Recent studies that we conducted on the expression of MC1R variants by human melanocytes and the implications of these variants on the function of the MC1R revealed the following.

Regulation (conducted) of MC1R in melanocytes associated with melanocortin 1 receptor

12) Confidence 0.45 Published 2000 Journal Pigment Cell Res. Section Abstract Doc Link 11041375 Disease Relevance 0 Pain Relevance 1.04

The homogeneity in the association of melanoma with any of the MC1R variables analyzed among geographic locales (as defined in the GenoMEL subjects paragraph) was tested by introducing MC1R variable × locale interaction terms in the regression model between melanoma and the MC1R variable, which also included sex, age at examination, and the locale indicator variable.

Regulation (introducing) of MC1R associated with melanocortin 1 receptor and melanoma

13) Confidence 0.45 Published 2010 Journal JNCI Journal of the National Cancer Institute Section Body Doc Link PMC2957428 Disease Relevance 0.40 Pain Relevance 0.66

To define the role of MC1R gene in uveal melanoma, a case control study was performed, in which the presence of MC1R gene variations in uveal melanoma patients was compared with that of healthy controls.

Regulation (role) of MC1R gene associated with melanocortin 1 receptor and skin cancer

14) Confidence 0.44 Published 2001 Journal Invest. Ophthalmol. Vis. Sci. Section Abstract Doc Link 11481256 Disease Relevance 0.37 Pain Relevance 0.46

Here, we have investigated whether alphaMSH can suppress Ag-induced lymphocyte proliferation in humans and whether these effects are dependent on MC1R genotype. alphaMSH suppressed streptokinase-streptodornase-induced lymphocyte proliferation, with maximal inhibition at 10(-13)-10(-11) M alphaMSH.

Spec (whether) Regulation (dependent) of MC1R in lymphocyte associated with melanocortin 1 receptor

15) Confidence 0.44 Published 2005 Journal J. Immunol. Section Abstract Doc Link 16177130 Disease Relevance 0.08 Pain Relevance 0.66

Unmelanized plumage patterns in Old World leaf warblers do not correspond to sequence variation at the melanocortin-1 receptor locus (MC1R).

Neg (not) Regulation (correspond) of MC1R in leaf associated with melanocortin 1 receptor

16) Confidence 0.44 Published 2003 Journal Mol. Biol. Evol. Section Title Doc Link 12885967 Disease Relevance 0 Pain Relevance 0.49

Effect of Val92Met and Arg163Gln variants of the MC1R gene on freckles and solar lentigines in Japanese.

Regulation (Effect) of MC1R associated with freckles

17) Confidence 0.42 Published 2007 Journal Pigment Cell Res. Section Title Doc Link 17371441 Disease Relevance 0.40 Pain Relevance 0.30

Although the red hair color variants (RHC variants) have been associated with skin cancer risk in the Celtic population, studies in darkly-pigmented Caucasian populations have demonstrated the importance of non-RHC MC1R variants on skin cancer risk as well.

Regulation (importance) of MC1R in skin associated with melanocortin 1 receptor and skin cancer

18) Confidence 0.40 Published 2007 Journal Hum. Mutat. Section Abstract Doc Link 17279550 Disease Relevance 0.51 Pain Relevance 0.56

Regulation of human melanocortin 1 receptor signaling and trafficking by Thr-308 and Ser-316 and its alteration in variant alleles associated with red hair and skin cancer.

Regulation (Regulation) of melanocortin 1 receptor in hair associated with melanocortin 1 receptor and skin cancer

19) Confidence 0.39 Published 2007 Journal J. Biol. Chem. Section Title Doc Link 17130136 Disease Relevance 0.25 Pain Relevance 0.59

The possible influence of these variants on the function of the MC1R needs to be investigated, in order to understand the physiological consequence of these mutations.

Spec (possible) Regulation (influence) of MC1R associated with melanocortin 1 receptor

20) Confidence 0.39 Published 1999 Journal Ann. N. Y. Acad. Sci. Section Abstract Doc Link 10816645 Disease Relevance 0.10 Pain Relevance 0.59

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