Entity Details

Primary name CDKL5_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO76039
EntryNameCDKL5_HUMAN
FullNameCyclin-dependent kinase-like 5
TaxID9606
Evidenceevidence at protein level
Length960
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesCDKL5

GO terms

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GOName
GO:0001764 neuron migration
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0004693 cyclin-dependent protein serine/threonine kinase activity
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005813 centrosome
GO:0006468 protein phosphorylation
GO:0016301 kinase activity
GO:0031267 small GTPase binding
GO:0032587 ruffle membrane
GO:0032839 dendrite cytoplasm
GO:0036064 ciliary basal body
GO:0043547 positive regulation of GTPase activity
GO:0044294 dendritic growth cone
GO:0045773 positive regulation of axon extension
GO:0046777 protein autophosphorylation
GO:0048471 perinuclear region of cytoplasm
GO:0050773 regulation of dendrite development
GO:0050775 positive regulation of dendrite morphogenesis
GO:0060999 positive regulation of dendritic spine development
GO:0097542 ciliary tip
GO:0098978 glutamatergic synapse
GO:0099092 postsynaptic density, intracellular component
GO:0099175 regulation of postsynapse organization
GO:0106310 protein serine kinase activity
GO:0106311 protein threonine kinase activity
GO:1902017 regulation of cilium assembly

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR000719 Protein kinase domainDomainDomain
IPR008271 Serine/threonine-protein kinase, active siteSiteActive site
IPR011009 Protein kinase-like domain superfamilyFamilyHomologous superfamily
IPR017441 Protein kinase, ATP binding siteSiteBinding site

Diseases

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Disease IDSourceNameDescription
300672 OMIMDevelopmental and epileptic encephalopathy 2 (DEE2)A severe form of epilepsy characterized by seizures or spasms beginning in infancy. Patients with epileptic encephalopathy early infantile type 2 manifest features resembling Rett syndrome such as microcephaly, lack of speech development, stereotypic hand movements. However, DEE2 and Rett syndrome are considered two distinct entities. The disease is caused by variants affecting the gene represented in this entry.