CDKL5 Gene Summary [Human]
This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | CDKL5 |
| Official Name | cyclin dependent kinase like 5 [Source:HGNC Symbol;Acc:HGNC:11411] |
| Ensembl ID | ENSG00000008086 |
| Bio databases IDs | |
| Aliases | cyclin dependent kinase like 5 |
| Synonyms | CFAP247, cyclin-dependent kinase-like 5, DEE2, EIEE2, ISSX, LOC100364794, STK9 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CDKL5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- kinase
- Serine/Threonine protein kinases, catalytic domain
- protein serine/threonine kinase
- protein kinase
- Protein Kinases, catalytic domain
- Protein tyrosine and serine/threonine kinase
- ATP binding
- enzyme binding
- protein binding
- Protein kinase domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- CDKL5 deficiency
- early infantile epileptic encephalopathy 2
- atypical Rett syndrome
- autism
- Rett syndrome
- Rett syndrome variant with infantile spasms
- West syndrome
- neurodevelopmental disorder
- Ohtahara syndrome
role in cell
- phosphorylation in
- activation in
- migration
- binding in
- formation
- formation in
- growth
- activity
- polarization
- development
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- glutaminergic synapse
- ciliary tip
- organelle
- Cytoplasm
- perinuclear region
- basal bodies
- centrosome
- membrane ruffles
- nuclear foci
- nucleoplasm
- dendritic spines
- growth cone
- neurites
- dendrites
- excitatory synapses
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CDKL5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of dendrite development
- neuron migration
- protein autophosphorylation
- regulation of synaptic transmission
- positive regulation of dendritic spine development
- positive regulation of axon extension
- regulation of cell cycle
- protein phosphorylation
- positive regulation of GTPase activity
- positive regulation of dendrite morphogenesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- dendritic growth cone
- centrosome
- perinuclear region of cytoplasm
- cilium basal body
- dendrite cytoplasm
- ruffle membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- small GTPase binding
- protein kinase activity
- cyclin-dependent protein kinase activity
- protein serine/threonine kinase activity
- kinase activity