|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:TAU
gptkb:FTDP-17
gptkb:MAPTL
DDPAC
MTBT1
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Pick's_disease
gptkb:Alzheimer's_disease
gptkb:corticobasal_degeneration
gptkb:progressive_supranuclear_palsy
frontotemporal dementia
|
|
gptkbp:discoveredIn
|
1988
|
|
gptkbp:encodes
|
gptkb:tau_protein
|
|
gptkbp:Entrez_Gene_ID
|
4137
|
|
gptkbp:expressedIn
|
brain
central nervous system
peripheral nervous system
|
|
gptkbp:fullName
|
microtubule-associated protein tau gene
|
|
gptkbp:function
|
stabilizes microtubules
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasPolymorphism
|
H1/H2 haplotypes
|
|
gptkbp:hasPseudogene
|
yes
|
|
gptkbp:HGNC_ID
|
6893
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MAPT gene
|
|
gptkbp:involvedIn
|
neuronal development
microtubule assembly
axon maintenance
|
|
gptkbp:length
|
~100 kb
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_17
17q21.31
|
|
gptkbp:mutationAssociatedWith
|
gptkb:tauopathies
deletion
insertion
missense
duplication
splice site
|
|
gptkbp:numberOfExons
|
16
|
|
gptkbp:OMIM
|
157140
|
|
gptkbp:orthologInMouse
|
Mapt
|
|
gptkbp:pathway
|
gptkb:Alzheimer_disease_pathway
gptkb:MAPK_signaling_pathway
neurodegeneration
axon guidance
|
|
gptkbp:producesIsoforms
|
6
|
|
gptkbp:product
|
gptkb:tau_protein
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:UniProtID
|
P10636
|
|
gptkbp:bfsParent
|
gptkb:tau_protein
gptkb:Tau_protein
|
|
gptkbp:bfsLayer
|
7
|