Property Summary

NCBI Gene PubMed Count 293
Grant Count 254
R01 Count 156
Funding $28,411,691.36
PubMed Score 786.99
PubTator Score 591.83

Knowledge Summary

Patent (29,505)

Expression

  Differential Expression (2)

Disease log2 FC p
lung adenocarcinoma 1.800 0.000
inflammatory breast cancer 1.200 0.038

Synonym

Gene

PANTHER Protein Class (2)

  TechDev Info (1)

Gene RIF (285)

PMID Text
26807515 MC1R status is associated with BRAF(V600E), BRAF(V600K), and NRAS mutations in cutaneous melanomas
26657157 Functional characterization of MC1R-TUBB3 intergenic splice variants of the human melanocortin 1 receptor has been undertaken in response to ultraviolet irradiation.
26628245 none of the three variants of the MC1R gene and related haplotypes be associated with sporadic form of Parkinson disease in Chinese Han population from Mainland China.
26536271 Study found that HBD2 bound tightly to Mc1r with an affinity similar to that of HBD3
26482799 The pattern of sequence diversity here does not support a model of strong selective constraint on MC1R in Northern Island Melanesia.
26381319 Even after taking into account potential confounding effects of MC1R genotype and various lifestyle factors that close relatives may share, family history of skin cancer remained strongly associated with early-onset basal cell carcinoma
26197705 Six MC1R mutations segregated with the phenotype in seven families, including a p.Val174del in-frame deletion and a p.Tyr298* nonsense mutation, that were analyzed for function in heterologous HEK293 cells.
26168232 ASIP diminishes agonist-independent MC1R basal signaling whereas HBD3 is a neutral MC1R antagonist that blocks activation by melanocortins.
26103950 Woman who carried a deleterious CDKN2A mutation and was also homozygous for the MC1R variant allele R160W developed 20 cutaneous melanomas in her lifetime.
26103569 a role of MC1R variants in non-melanoma skin cancer development and suggested an effect modification by red hair colour phenotype.
More...

AA Sequence

MAVQGSQRRLLGSLNSTPTAIPQLGLAANQTGARCLEVSISDGLFLSLGLVSLVENALVVATIAKNRNLH      1 - 70
SPMYCFICCLALSDLLVSGSNVLETAVILLLEAGALVARAAVLQQLDNVIDVITCSSMLSSLCFLGAIAV     71 - 140
DRYISIFYALRYHSIVTLPRARRAVAAIWVASVVFSTLFIAYYDHVAVLLCLVVFFLAMLVLMAVLYVHM    141 - 210
LARACQHAQGIARLHKRQRPVHQGFGLKGAVTLTILLGIFFLCWGPFFLHLTLIVLCPEHPTCGCIFKNF    211 - 280
NLFLALIICNAIIDPLIYAFHSQELRRTLKEVLTCSW                                     281 - 317
//

Publication (295)

PMID Year Title
26807515 2016 Histologic and Phenotypic Factors and MC1R Status Associated with BRAF(V600E), BRAF(V600K), and NRAS Mutations in a Community-Based Sample of 414 Cutaneous Melanomas.
26657157 2015 Functional Characterization of MC1R-TUBB3 Intergenic Splice Variants of the Human Melanocortin 1 Receptor.
26628245 2016 Genetic analysis of MC1R variants in Chinese Han patients with sporadic Parkinson's disease.
26536271 2015 Electrostatic Similarity Analysis of Human ?-Defensin Binding in the Melanocortin System.
26482799 2015 MC1R diversity in Northern Island Melanesia has not been constrained by strong purifying selection and cannot explain pigmentation phenotype variation in the region.
26381319 2015 Family history of skin cancer is associated with early-onset basal cell carcinoma independent of MC1R genotype.
26197705 2015 Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population.
26168232 2015 Defining the Contribution of MC1R Physiological Ligands to ATR Phosphorylation at Ser435, a Predictor of DNA Repair in Melanocytes.
26103950 2015 High incidence of primary melanomas in an MC1R RHC homozygote/CDKN2A mutant genotype patient.
26103569 2015 MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project.
More...