INT64451

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Context Info
Confidence 0.59
First Reported 1996
Last Reported 2010
Negated 2
Speculated 0
Reported most in Abstract
Documents 21
Total Number 22
Disease Relevance 4.94
Pain Relevance 9.22

This is a graph with borders and nodes. Maybe there is an Imagemap used so the nodes may be linking to some Pages.

pigmentation (MC1R) plasma membrane (MC1R) signal transducer activity (MC1R)
Anatomy Link Frequency
melanocyte 5
hair 4
plasma 1
striatum 1
skin 1
MC1R (Homo sapiens)
Pain Link Frequency Relevance Heat
melanocortin 1 receptor 88 100.00 Very High Very High Very High
antagonist 10 100.00 Very High Very High Very High
Spinal cord 1 99.12 Very High Very High Very High
Analgesic 2 96.92 Very High Very High Very High
Morphine 4 96.40 Very High Very High Very High
allodynia 1 93.72 High High
Nucleus accumbens 2 93.20 High High
agonist 17 90.88 High High
Central grey 1 90.40 High High
Neuropathic pain 6 86.92 High High
Disease Link Frequency Relevance Heat
Microphthalmia 1 100.00 Very High Very High Very High
Genetic Predisposition To Disease 2 99.48 Very High Very High Very High
Skin Cancer 36 99.00 Very High Very High Very High
Nociception 3 98.16 Very High Very High Very High
Apoptosis 2 96.56 Very High Very High Very High
Neuropathic Pain 7 93.72 High High
Stress 1 92.04 High High
Urological Neuroanatomy 2 90.40 High High
Freckles 8 87.64 High High
Opiate Addiction 2 75.00 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Functional analyses show that this variant reduces MC1R activity to a level that alters hair and/or skin pigmentation in humans.
Negative_regulation (reduces) of MC1R in pigmentation associated with melanocortin 1 receptor
1) Confidence 0.59 Published 2007 Journal Science Section Abstract Doc Link 17962522 Disease Relevance 0 Pain Relevance 0.60
Red hair in man is due to certain loss of function mutations of one of the peptide products of the pro-opiomelanocortin (POMC) gene, the melanocortin-1 receptor (MC1R, MIM 155555).
Negative_regulation (loss) of MC1R in hair associated with melanocortin 1 receptor
2) Confidence 0.59 Published 2002 Journal J Cosmet Dermatol Section Abstract Doc Link 17147521 Disease Relevance 0 Pain Relevance 0.10
Disruption of any of these bonds abolished MC1R function, but only the one involving Cys35 was essential for traffic to the plasma membrane.
Negative_regulation (abolished) of MC1R in plasma associated with melanocortin 1 receptor
3) Confidence 0.59 Published 2008 Journal Biochem. Biophys. Res. Commun. Section Abstract Doc Link 18222116 Disease Relevance 0 Pain Relevance 0.41
We are designing potent melanocortin analogs that mimic the effects of alpha-MSH as a strategy to prevent skin cancer, particularly in individuals who express MC1R genotypes that reduce but do not abolish MC1R function, or mutations in other melanoma susceptibility genes, such as p16.
Neg (not) Negative_regulation (abolish) of MC1R in skin associated with melanocortin 1 receptor and skin cancer
4) Confidence 0.59 Published 2008 Journal Photochem. Photobiol. Section Abstract Doc Link 18282187 Disease Relevance 0.52 Pain Relevance 0.47
Based on these in vitro studies, we believe that the result we observed for Val92Met could be attributed to impaired MC1R function, while, for Arg163Gln, other factors, e.g. effect of other loci, need to be considered.
Negative_regulation (impaired) of MC1R associated with melanocortin 1 receptor
5) Confidence 0.55 Published 2007 Journal Pigment Cell Res. Section Abstract Doc Link 17371441 Disease Relevance 0.36 Pain Relevance 0.28
In vitro studies by other groups demonstrated that Val92Met impaired MC1R function but Arg163Gln did not.
Negative_regulation (impaired) of MC1R associated with melanocortin 1 receptor
6) Confidence 0.55 Published 2007 Journal Pigment Cell Res. Section Abstract Doc Link 17371441 Disease Relevance 0.38 Pain Relevance 0.39
Heterozygous mutations that are frequently expressed in various melanocyte cultures did not disrupt MC1R function.
Neg (not) Negative_regulation (disrupt) of MC1R in melanocyte associated with melanocortin 1 receptor
7) Confidence 0.43 Published 2000 Journal Pigment Cell Res. Section Abstract Doc Link 11041375 Disease Relevance 0 Pain Relevance 0.95
Red hair in man is due to certain loss of function mutations of one of the peptide products of the pro-opiomelanocortin (POMC) gene, the melanocortin-1 receptor (MC1R, MIM 155555).
Negative_regulation (loss) of melanocortin-1 receptor in hair associated with melanocortin 1 receptor
8) Confidence 0.43 Published 2002 Journal J Cosmet Dermatol Section Abstract Doc Link 17147521 Disease Relevance 0 Pain Relevance 0.10
This effect was absent in human melanocytes with loss of function MC1R mutations.
Negative_regulation (loss) of MC1R in melanocytes associated with melanocortin 1 receptor
9) Confidence 0.42 Published 2003 Journal Ann. N. Y. Acad. Sci. Section Abstract Doc Link 12851336 Disease Relevance 0.18 Pain Relevance 0.39
In 3 species (2 lemurs and the howler monkey), we report the novel finding that binding and inhibition of MC1R by agouti signaling protein (ASIP) can occur when MSH binding has been lost, thus enabling continuing regulation of the melanin type via ASIP expression.
Negative_regulation (inhibition) of MC1R associated with melanocortin 1 receptor
10) Confidence 0.42 Published 2007 Journal Mol. Biol. Evol. Section Abstract Doc Link 17609536 Disease Relevance 0 Pain Relevance 0.70
Defining the quantitative contribution of the melanocortin 1 receptor (MC1R) to variation in pigmentary phenotype.
Negative_regulation (Defining) of MC1R associated with melanocortin 1 receptor
11) Confidence 0.38 Published 2003 Journal Ann. N. Y. Acad. Sci. Section Title Doc Link 12851334 Disease Relevance 0 Pain Relevance 0.49
Levels of mRNA and protein were measured in genes known to be up or down-regulated by agouti in the mouse, namely microphthalmia (Mitf), tyrosinase (Tyr), tyrosinase-related protein 1 (Tyrp1), dopachrome tautomerase (Dct), Mc1r, silver, initiation transcription factor 2 (Itf2) and mini chromosome maintenance protein 6 (Mcm6).
Negative_regulation (down-regulated) of Mc1r associated with melanocortin 1 receptor and microphthalmia
12) Confidence 0.38 Published 2003 Journal Pigment Cell Res. Section Abstract Doc Link 12519127 Disease Relevance 0.48 Pain Relevance 0.35
The data provide evidence for a dosage effect of MC1R variants on hair as well as skin colour.
Negative_regulation (effect) of MC1R in hair associated with melanocortin 1 receptor
13) Confidence 0.37 Published 2000 Journal Hum. Mol. Genet. Section Abstract Doc Link 11030758 Disease Relevance 0 Pain Relevance 0.43
The lack of specific pharmacological tools has impeded the evaluation of the role of each melanocortin receptor (MCR) subtype in the myriad physiological effects of melanocortins. 154N-5 is an octapeptide (MFRdWFKPV-NH(2)) that was first identified as an MC1R antagonist in Xenopus melanophores [J.
Negative_regulation (antagonist) of MC1R in melanophores associated with antagonist
14) Confidence 0.37 Published 2003 Journal Peptides Section Abstract Doc Link 12895657 Disease Relevance 0.15 Pain Relevance 0.28
Influence of loss of function MC1R variants in genetic susceptibility of familial melanoma in Spain.
Negative_regulation (loss) of MC1R associated with genetic predisposition to disease and skin cancer
15) Confidence 0.36 Published 2010 Journal Melanoma Res. Section Title Doc Link 20539244 Disease Relevance 0.73 Pain Relevance 0.07
This study proposes the relevance of loss of function MC1R variants in the risk of melanoma in multiple primary melanoma cases with family history from areas with low melanoma incidence rate.
Negative_regulation (loss) of MC1R associated with skin cancer
16) Confidence 0.31 Published 2010 Journal Melanoma Res. Section Abstract Doc Link 20539244 Disease Relevance 0.98 Pain Relevance 0.09
Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair.
Negative_regulation (Loss) of melanocortin 1 receptor in hair associated with melanocortin 1 receptor
17) Confidence 0.16 Published 1999 Journal Biochem. Biophys. Res. Commun. Section Title Doc Link 10403794 Disease Relevance 0 Pain Relevance 0.20
Defects in melanocortin ligand biosynthesis, secretion, and melanocortin receptor function can lead to a diverse number of pathological states.
Negative_regulation (Defects) of melanocortin receptor
18) Confidence 0.13 Published 1999 Journal Ann. N. Y. Acad. Sci. Section Abstract Doc Link 10816638 Disease Relevance 0 Pain Relevance 0.15
We hypothesise that melanocortin receptor blockade attenuates a tonic influence of alpha-MSH on nociception, thus allowing the analgesic effects of beta-endorphin to develop, resulting in the alleviation of allodynia.
Negative_regulation (blockade) of melanocortin receptor associated with nociception, allodynia and analgesic
19) Confidence 0.09 Published 2001 Journal Eur. J. Pharmacol. Section Abstract Doc Link 11698027 Disease Relevance 0.78 Pain Relevance 1.05
Reduction of disulfide bonds in human melanocortin 1 receptor (hMC1R) with increasing concentrations of DTT (dithiothreitol) resulted in a decrease in the binding of [125I]-ACTH (adrenocorticotropic hormone, L-isomer) in an uniphasic manner and a decrease in [125I]-NDP-MSH ([Nle(4),D-Phe(7)]-alpha-melanocyte stimulating hormone; D-isomer) binding in a biphasic manner.
Negative_regulation (Reduction) of hMC1R in melanocyte associated with melanocortin 1 receptor
20) Confidence 0.05 Published 2001 Journal Biochem. Biophys. Res. Commun. Section Abstract Doc Link 11237737 Disease Relevance 0 Pain Relevance 0.25

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