|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:LR11
gptkb:SORL
gptkb:SORLA
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Alzheimer's_disease
|
|
gptkbp:chromosomeArm
|
11q24.1
|
|
gptkbp:component
|
gptkb:endosome
gptkb:cell_membrane
|
|
gptkbp:discoveredBy
|
gptkb:Andersen_OM_et_al.
|
|
gptkbp:encodes
|
gptkb:sortilin-related_receptor_protein
|
|
gptkbp:Entrez_Gene_ID
|
6653
ENSG00000137642
|
|
gptkbp:expressedIn
|
brain
|
|
gptkbp:firstDescribed
|
1996
|
|
gptkbp:fullName
|
gptkb:sortilin-related_receptor_1
|
|
gptkbp:function
|
receptor activity
regulation of endocytosis
trafficking of amyloid precursor protein
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GOProcess
|
protein transport
|
|
gptkbp:HGNC_ID
|
HGNC:11186
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SORL1
|
|
gptkbp:locatedOnChromosome
|
chromosome 11
|
|
gptkbp:mutationAssociatedWith
|
early-onset Alzheimer's disease
|
|
gptkbp:OMIM
|
602005
|
|
gptkbp:orthologInMouse
|
Sorl1
|
|
gptkbp:pathway
|
gptkb:Alzheimer's_disease_pathway
endocytosis
|
|
gptkbp:product
|
gptkb:SORLA
|
|
gptkbp:UniProtID
|
Q92673
|
|
gptkbp:bfsParent
|
gptkb:Alzheimer's_disease_pathway
|
|
gptkbp:bfsLayer
|
7
|