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gptkbp:instanceOf
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gptkb:gene
|
|
gptkbp:alternativeName
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gptkb:melanocyte-stimulating_hormone_receptor
gptkb:MSHR
melanotropin receptor
|
|
gptkbp:associatedWith
|
melanoma
red hair
albinism
vitiligo
skin pigmentation
freckles
non-melanoma skin cancer
melanoma risk
|
|
gptkbp:discoveredBy
|
Jeffrey M. Friedman (team)
|
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gptkbp:encodes
|
melanocortin 1 receptor protein
|
|
gptkbp:enemyOf
|
gptkb:agouti_signaling_protein
|
|
gptkbp:Entrez_Gene_ID
|
4157
|
|
gptkbp:expressedIn
|
gptkb:melanocytes
|
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gptkbp:foundIn
|
gptkb:Homo_sapiens
other mammals
|
|
gptkbp:fullName
|
gptkb:melanocortin_1_receptor
|
|
gptkbp:function
|
regulation of eumelanin and pheomelanin production
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:6923
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MC1R gene
|
|
gptkbp:influenced
|
response to UV radiation
risk of sunburn
skin cancer susceptibility
|
|
gptkbp:length
|
317 amino acids
954 base pairs
|
|
gptkbp:ligand
|
gptkb:alpha-melanocyte-stimulating_hormone
|
|
gptkbp:locatedOnChromosome
|
gptkb:16q24.3
gptkb:chromosome_16
|
|
gptkbp:mutationAssociatedWith
|
deletion
insertion
missense mutation
nonsense mutation
decreased eumelanin production
increased UV sensitivity
increased pheomelanin production
|
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gptkbp:numberOfExons
|
1
|
|
gptkbp:OMIM
|
155555
|
|
gptkbp:orthologInMouse
|
Mc1r
|
|
gptkbp:product
|
gptkb:G_protein-coupled_receptor
|
|
gptkbp:proteinFamily
|
melanocortin receptor family
|
|
gptkbp:regulates
|
UV response
hair color variation
melanin synthesis
skin color variation
|
|
gptkbp:UniProtID
|
gptkb:Q01726
|
|
gptkbp:bfsParent
|
gptkb:melanocortin_1_receptor
gptkb:Light_Hair
|
|
gptkbp:bfsLayer
|
7
|