Statements (25)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alias |
KIAA0910
PARK20 SYNJ |
gptkbp:alternativeSplicing |
yes
|
gptkbp:associatedWith |
gptkb:Parkinson's_disease
early-onset Parkinsonism |
gptkbp:encodes |
Synaptojanin-1
|
gptkbp:Entrez_Gene_ID |
8867
ENSG00000183305 |
gptkbp:expressedIn |
brain
|
gptkbp:function |
phosphoinositide phosphatase activity
|
gptkbp:HGNC_ID |
11195
|
https://www.w3.org/2000/01/rdf-schema#label |
SYNJ1
|
gptkbp:involvedIn |
synaptic vesicle recycling
|
gptkbp:locatedOnChromosome |
gptkb:21q22.11
|
gptkbp:mutationAssociatedWith |
neurodegeneration
|
gptkbp:OMIM |
604297
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologIn |
gptkb:Danio_rerio
gptkb:Mus_musculus |
gptkbp:product |
Synaptojanin-1
|
gptkbp:UniProtID |
O43426
|
gptkbp:bfsParent |
gptkb:human_chromosome_21
|
gptkbp:bfsLayer |
7
|