|
gptkbp:instanceOf
|
gptkb:protein
gptkb:gene
|
|
gptkbp:alias
|
gptkb:DYRK
gptkb:MRD7
MNBH
|
|
gptkbp:associatedWith
|
gptkb:Alzheimer's_disease
gptkb:Down_syndrome
gptkb:autism_spectrum_disorder
intellectual disability
microcephaly
|
|
gptkbp:discoveredBy
|
researchers studying Down syndrome critical region
|
|
gptkbp:Entrez_Gene_ID
|
1859
|
|
gptkbp:enzymeClassification
|
gptkb:EC_2.7.12.1
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
brain
heart
|
|
gptkbp:fullName
|
gptkb:Dual_specificity_tyrosine-phosphorylation-regulated_kinase_1A
|
|
gptkbp:function
|
autophosphorylation
protein kinase activity
phosphorylates serine/threonine and tyrosine residues
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
gptkb:DYRK1A
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
DYRK1A
|
|
gptkbp:inhibitedBy
|
gptkb:epigallocatechin_gallate_(EGCG)
gptkb:harmine
|
|
gptkbp:interactsWith
|
gptkb:CREB
gptkb:GLI1
gptkb:SRSF6
|
|
gptkbp:locatedOnChromosome
|
21
|
|
gptkbp:location
|
21q22.13
|
|
gptkbp:MIM_phenotype
|
614104
|
|
gptkbp:mutationAssociatedWith
|
haploinsufficiency causes intellectual disability
overexpression linked to Down syndrome phenotypes
|
|
gptkbp:OMIM
|
600855
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:Drosophila_minibrain_(mnb)
|
|
gptkbp:pathway
|
gptkb:MAPK_signaling_pathway
cell cycle regulation
neurodevelopmental pathways
|
|
gptkbp:phosphorylates
|
gptkb:cyclin_D1
gptkb:tau_protein
gptkb:NFAT_transcription_factors
|
|
gptkbp:regulates
|
apoptosis
cell proliferation
neuronal development
alternative splicing
|
|
gptkbp:structure
|
contains protein kinase domain
contains PEST sequence
contains nuclear localization signal
|
|
gptkbp:UniProtID
|
Q13627
|
|
gptkbp:bfsParent
|
gptkb:21q22.11
|
|
gptkbp:bfsLayer
|
6
|