|
gptkbp:instanceOf
|
gptkb:protein
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
gptkb:SORL1
sortilin-related receptor
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Alzheimer's_disease
|
|
gptkbp:discoveredBy
|
Thomas E. Willnow
|
|
gptkbp:encodedBy
|
SORL1 gene
|
|
gptkbp:Entrez_Gene_ID
|
6653
|
|
gptkbp:expressedIn
|
brain
neurons
|
|
gptkbp:firstDescribed
|
1996
|
|
gptkbp:function
|
involved in endosomal sorting
regulates trafficking of amyloid precursor protein
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SORLA
|
|
gptkbp:interactsWith
|
gptkb:APP_(amyloid_precursor_protein)
gptkb:ApoE
gptkb:sortilin
retromer complex
GGA proteins
|
|
gptkbp:involves
|
gptkb:cardiovascular_disease
gptkb:dementia
gptkb:type_2_diabetes
obesity
|
|
gptkbp:locatedOnChromosome
|
chromosome 11
|
|
gptkbp:location
|
gptkb:trans-Golgi_network
gptkb:plasma_membrane
endosomes
|
|
gptkbp:memberOf
|
VPS10 domain receptor family
|
|
gptkbp:molecularWeight
|
~250 kDa
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
early-onset Alzheimer's disease
frameshift
|
|
gptkbp:OMIM
|
602005
|
|
gptkbp:orthologIn
|
gptkb:mouse
gptkb:zebrafish
right
|
|
gptkbp:product
|
contains EGF-like domains
contains transmembrane domain
contains LDLR class A repeats
contains VPS10 domain
contains fibronectin type III domains
|
|
gptkbp:regulates
|
lipoprotein metabolism
neuronal signaling
amyloid-beta peptide production
|
|
gptkbp:UniProtID
|
Q92673
|
|
gptkbp:bfsParent
|
gptkb:SORL1
|
|
gptkbp:bfsLayer
|
8
|