CDKL5

Description		cyclin dependent kinase like 5
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GO Annotations	Cellular Component	Nucleus Nucleoplasm Cytoplasm Centrosome Cytoskeleton Ruffle Membrane Dendrite Cytoplasm Ciliary Basal Body Cell Projection Dendritic Growth Cone Ciliary Tip Glutamatergic Synapse
	Molecular Function	Nucleotide Binding Protein Kinase Activity Protein Serine/threonine Kinase Activity Cyclin-dependent Protein Serine/threonine Kinase Activity Protein Binding ATP Binding Kinase Activity Transferase Activity Small GTPase Binding Protein Serine Kinase Activity
	Biological Process	Neuron Migration Positive Regulation Of Rac Protein Signal Transduction Positive Regulation Of Axon Extension Regulation Of Dendrite Development Positive Regulation Of Dendrite Morphogenesis Modulation Of Chemical Synaptic Transmission Regulation Of Cell Cycle Regulation Of Postsynapse Organization Regulation Of Cilium Assembly
Pathways
Drugs
Diseases		Prader-Willi and Angelman syndromes, including: Angelman syndrome (AS); Prader-Willi syndrome (PWS) Early infantile epileptic encephalopathy; Ohtahara syndrome
GWAS		Estimated glomerular filtration rate ( 31015462)
Interacting Genes		4 interacting genes: MLH1 SKIC2 SPTBN4 TACC3
Entrez ID		6792
HPRD ID		02190
Ensembl ID		ENSG00000008086
Uniprot IDs		O76039
PDB IDs		4BGQ 8CIE
Enriched GO Terms of Interacting Partners?		Organelle Organization Meiotic Spindle Midzone Assembly Meiotic Metaphase Chromosome Alignment RNA Catabolic Process Guanine/thymine Mispair Binding Male Meiosis Chromosome Segregation Homologous Chromosome Segregation MutLalpha Complex Female Meiosis Chromosome Segregation Chiasma Nuclear-transcribed MRNA Catabolic Process Late Recombination Nodule Mismatch Repair Complex MRNA Catabolic Process Meiotic Metaphase I Homologous Chromosome Alignment Negative Regulation Of Mitotic Recombination Ski Complex Nuclear-transcribed MRNA Catabolic Process, 3'-5' Exonucleolytic Nonsense-mediated Decay Cytoskeletal Protein-membrane Anchor Activity Clustering Of Voltage-gated Sodium Channels Positive Regulation Of Isotype Switching To IgA Isotypes MutSalpha Complex Binding Regulation Of Mitotic Recombination 3'-5' RNA Helicase Activity Metaphase/anaphase Transition Of Mitotic Cell Cycle Axon Hillock Cell Body Fiber Meiotic Telomere Clustering Chromosome Localization To Nuclear Envelope Involved In Homologous Chromosome Segregation Metaphase/anaphase Transition Of Cell Cycle Telomere Localization Paranode Region Of Axon Spectrin Nucleobase-containing Compound Catabolic Process Spindle Midzone Assembly ATP Hydrolysis Activity Mismatched DNA Binding Positive Regulation Of Isotype Switching To IgG Isotypes Juxtaparanode Region Of Axon Neuronal Ion Channel Clustering Negative Regulation Of Heart Rate Somatic Hypermutation Of Immunoglobulin Genes Meiotic Chromosome Segregation Somatic Diversification Of Immune Receptors Via Somatic Mutation Regulation Of Isotype Switching To IgG Isotypes Resolution Of Meiotic Recombination Intermediates Organelle Localization ATP-dependent DNA Damage Sensor Activity Nuclear-transcribed MRNA Poly(A) Tail Shortening Node Of Ranvier
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