|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
gptkb:SILV
gptkb:gp100
gptkb:PMEL
Silver locus protein homolog
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:antigen
|
T cells in melanoma
|
|
gptkbp:associatedWith
|
melanoma
pigmentation
vitiligo
ocular albinism
melanosome biogenesis
|
|
gptkbp:discoveredBy
|
genetic studies in mice
|
|
gptkbp:encodes
|
premelanosome protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000185664
6490
|
|
gptkbp:expressedIn
|
gptkb:melanocytes
|
|
gptkbp:firstDescribed
|
1990s
|
|
gptkbp:function
|
formation of amyloid fibrils in melanosomes
scaffold for melanin deposition
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PMEL17
|
|
gptkbp:length
|
661 amino acids
|
|
gptkbp:locatedOnChromosome
|
chromosome 12 in humans
|
|
gptkbp:mutationAssociatedWith
|
Merle pattern in dogs
Pigment dilution in chickens
Silver coat color in horses
dilution of coat color in animals
|
|
gptkbp:NomenclatureAuthority
|
HGNC: 9110
|
|
gptkbp:OMIM
|
155550
|
|
gptkbp:orthologIn
|
gptkb:dog
gptkb:horse_race
gptkb:livestock
gptkb:meat
gptkb:mouse
gptkb:zebrafish
gptkb:cat
|
|
gptkbp:proteinFamily
|
transmembrane domain
PKD domain
repeat domain
|
|
gptkbp:relatedTo
|
melanogenesis
melanoma immunotherapy
|
|
gptkbp:subcellularLocation
|
gptkb:endoplasmic_reticulum
gptkb:Golgi_apparatus
melanosome membrane
|
|
gptkbp:UniProtID
|
gptkb:P40967
|
|
gptkbp:usedAs
|
melanoma marker
|
|
gptkbp:bfsParent
|
gptkb:PMEL
|
|
gptkbp:bfsLayer
|
7
|