|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:CALM
Hc
|
|
gptkbp:associatedWith
|
gptkb:Alzheimer's_disease
leukemia
|
|
gptkbp:discoveredIn
|
1995
|
|
gptkbp:encodes
|
gptkb:phosphatidylinositol-binding_clathrin_assembly_protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000073921
8301
|
|
gptkbp:expressedIn
|
brain
hematopoietic cells
|
|
gptkbp:fullName
|
gptkb:phosphatidylinositol_binding_clathrin_assembly_protein
|
|
gptkbp:function
|
involved in clathrin-mediated endocytosis
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:8986
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PICALM
|
|
gptkbp:interactsWith
|
gptkb:clathrin
gptkb:AP2_complex
|
|
gptkbp:locatedOnChromosome
|
11
|
|
gptkbp:location
|
gptkb:11q14
|
|
gptkbp:mutationAssociatedWith
|
may cause hematological malignancies
may increase risk of Alzheimer's disease
t(10;11)(p13;q14) translocation in leukemia
|
|
gptkbp:OMIM
|
603025
|
|
gptkbp:orthologIn
|
gptkb:Mus_musculus
gptkb:Rattus_norvegicus
|
|
gptkbp:regulates
|
endocytosis
synaptic vesicle recycling
|
|
gptkbp:species
|
gptkb:Homo_sapiens
|
|
gptkbp:UniProtID
|
gptkb:Q13492
|
|
gptkbp:bfsParent
|
gptkb:Alzheimer's_disease_pathway
|
|
gptkbp:bfsLayer
|
7
|