melanocortin 1 receptor (MC1R)

URI: https://gptkb.org/entity/melanocortin_1_receptor_(MC1R)

GPTKB entity

Statements (50)

Predicate	Object
gptkbp:instanceOf	gptkb:protein gptkb:gene
gptkbp:activatedBy	alpha-melanocyte-stimulating hormone (α-MSH)
gptkbp:alternativeName	gptkb:melanocyte-stimulating_hormone_receptor gptkb:MSHR melanotropin receptor
gptkbp:associatedWith	gptkb:cancer melanoma hair color albinism skin pigmentation freckles increased risk of melanoma red hair phenotype
gptkbp:binds	agouti signaling protein (ASIP) alpha-melanocyte-stimulating hormone (α-MSH)
gptkbp:category	melanocortin receptor family
gptkbp:discoveredBy	1995
gptkbp:encodedBy	gptkb:MC1R_gene
gptkbp:Entrez_Gene_ID	gptkb:ENSG00000104983 4157
gptkbp:expressedIn	gptkb:melanocytes
gptkbp:function	gptkb:G_protein-coupled_receptor regulation of melanin production
gptkbp:HGNC_ID	6923
https://www.w3.org/2000/01/rdf-schema#label	melanocortin 1 receptor (MC1R)
gptkbp:inhibitedBy	agouti signaling protein (ASIP)
gptkbp:length	317 amino acids
gptkbp:locatedIn	gptkb:chromosome_16
gptkbp:location	gptkb:plasma_membrane
gptkbp:mutationAssociatedWith	decreased eumelanin production increased pheomelanin production loss of function leads to red hair
gptkbp:OMIM	155555
gptkbp:orthologIn	gptkb:Gallus_gallus gptkb:Mus_musculus gptkb:Canis_lupus_familiaris
gptkbp:pathway	gptkb:cAMP_signaling_pathway melanogenesis
gptkbp:PDB	7F4D
gptkbp:regulates	switch between eumelanin and pheomelanin synthesis
gptkbp:relatedTrait	UV sensitivity sunburn susceptibility
gptkbp:species	gptkb:Homo_sapiens
gptkbp:symbol	gptkb:MC1R
gptkbp:transmembraneDomains	7
gptkbp:UniProtID	gptkb:Q01726
gptkbp:bfsParent	gptkb:agouti_gene gptkb:agouti_signaling_peptide
gptkbp:bfsLayer	7