|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:melanocyte-stimulating_hormone_receptor
|
|
gptkbp:alternativeSplicing
|
no
|
|
gptkbp:associatedWith
|
freckles
non-melanoma skin cancer
sun sensitivity
|
|
gptkbp:conservedIn
|
7 transmembrane domains
|
|
gptkbp:discoveredIn
|
1995
|
|
gptkbp:encodes
|
melanocortin 1 receptor protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000104983
|
|
gptkbp:expressedIn
|
gptkb:melanocytes
gptkb:skin
gptkb:adrenal_gland
brain
eye
hair follicles
|
|
gptkbp:fullName
|
gptkb:melanocortin_1_receptor
|
|
gptkbp:function
|
regulation of skin and hair pigmentation
|
|
gptkbp:hasPseudogene
|
no
|
|
gptkbp:HGNC_ID
|
6923
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MC1R
|
|
gptkbp:influenced
|
DNA repair
immune response
UV response
|
|
gptkbp:interactsWith
|
gptkb:ASIP
gptkb:MRAP
beta-defensin 3
|
|
gptkbp:length
|
317 amino acids
951 base pairs
|
|
gptkbp:ligand
|
gptkb:alpha-melanocyte-stimulating_hormone
gptkb:adrenocorticotropic_hormone
|
|
gptkbp:locatedOnChromosome
|
gptkb:16q24.3
|
|
gptkbp:location
|
gptkb:plasma_membrane
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
missense
red hair
fair skin
increased risk of melanoma
|
|
gptkbp:numberOfExons
|
1
|
|
gptkbp:OMIM
|
155555
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:Gallus_gallus
gptkb:Mus_musculus
gptkb:Canis_lupus_familiaris
|
|
gptkbp:product
|
gptkb:G_protein-coupled_receptor
|
|
gptkbp:proteinFamily
|
melanocortin receptor family
|
|
gptkbp:RefSeq
|
NM_002386
|
|
gptkbp:regulates
|
eumelanin production
pheomelanin production
|
|
gptkbp:type
|
gptkb:cAMP_pathway
|
|
gptkbp:UniProtID
|
gptkb:Q01726
|
|
gptkbp:bfsParent
|
gptkb:melanocortin_receptor
|
|
gptkbp:bfsLayer
|
6
|