Protein MC1R

URN	urn:agi-llid:4157
Connectivity	118
Name	MC1R
Description	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
Notes	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]

Pathway	melanocortin system pathway

GO Molecular Function	signal transducer activity
	peptide binding
	melanocyte stimulating hormone receptor activity
	peptide receptor activity, G-protein coupled
	melanocortin receptor activity
	receptor activity
	G-protein coupled receptor activity

GO Biological Process	pigmentation
	multicellular organismal development
	neuron differentiation
	negative regulation of tumor necrosis factor production
	sensory perception of pain
	signal transduction
	axon guidance
	mitosis
	positive regulation of protein kinase A signaling cascade
	positive regulation of protein kinase C signaling cascade
	positive regulation of protein kinase B signaling cascade
	intracellular protein kinase cascade
	G-protein signaling, coupled to cyclic nucleotide second messenger
	positive regulation of gene-specific transcription from RNA polymerase II promoter
	positive regulation of cAMP biosynthetic process
	melanin biosynthetic process
	UV-damage excision repair
	UV protection
	G-protein coupled receptor protein signaling pathway

Ariadne Ontology	GPCR-GsCR

Group	GPCR-GsCR
	pigmentation
	multicellular organismal development
	neuron differentiation
	negative regulation of tumor necrosis factor production
	sensory perception of pain
	signal transduction
	axon guidance
	mitosis
	positive regulation of protein kinase A signaling cascade
	positive regulation of protein kinase C signaling cascade
	positive regulation of protein kinase B signaling cascade
	intracellular protein kinase cascade
	G-protein signaling, coupled to cyclic nucleotide second messenger
	positive regulation of gene-specific transcription from RNA polymerase II promoter
	positive regulation of cAMP biosynthetic process
	melanin biosynthetic process
	UV-damage excision repair
	UV protection
	G-protein coupled receptor protein signaling pathway
	signal transducer activity
	peptide binding
	melanocyte stimulating hormone receptor activity
	peptide receptor activity, G-protein coupled
	melanocortin receptor activity
	receptor activity
	G-protein coupled receptor activity
	membrane
	intracellular
	plasma membrane
	cytoplasm
	melanosome
	microtubule cytoskeleton
	integral to membrane
	integral to plasma membrane
	axon

MedScan ID	4157

Hugo ID	6929
	20772

Human chromosome position	16q24.3

LocusLink ID	4157
	17199

Alias	CMM5
	MSH-R
	SHEP2
	MGC14337
	melanocyte-stimulating hormone receptor
	MC1-R
	melanotropin receptor
	melanocortin receptor 1
	e
	Tob
	Mshra
	tobacco darkening
	melanocortin-1 receptor
	extension recessive yellow
	MSHR
	alpha melanocyte stimulating hormone receptor
	alpha melanocyte stimulation hormone receptor
	alpha-melanocyte stimulating hormone receptors
	alpha-melanocyte stimulation hormone receptors
	extension yellow gene
	Mc1r
	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
	Melanocortin-1 receptors
	Melanocyte stimulating hormone receptor
	Melanocyte stimulating hormone receptors
	Melanocyte stimulation hormone receptor
	Melanocyte stimulation hormone receptors
	melanotrophin receptor
	melanotrophin receptors
	melanotropin receptors
	tobacco darkening mutant
	tobacco darkening protein

Organism	Homo sapiens
	Mus musculus

Mouse chromosome position	8 68.0 cM

PIR ID	S29204

Unigene ID	Hs.513829
	Mm.324942

KEGG ID	hsa:4157
	mmu:17199

Cell Localization	Cell membrane
	Plasma membrane

Homologene ID	1789

RGD ID	1323826

MGI ID	99456